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"https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S002577532200361X?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623000281?idApp=UINPBA00004N" "url" => "/23870206/0000016000000004/v1_202302191857/S2387020623000281/v1_202302191857/en/main.assets" ] "en" => array:20 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>" "titulo" => "<span class="elsevierStyleItalic">AZF</span> gene microdeletions in azoospermic–oligozoospermic males" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "151" "paginaFinal" => "155" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Raquel Lahoz Alonso, Paula Sienes Bailo, María Ángeles César Márquez, José Carlos Sánchez Torres, Javier Ignacio Albericio Portero, Marcelino Sánchez Parrilla, Miguel Ángel Suárez Broto, Luis Rello Varas, Silvia Izquierdo Álvarez" "autores" => array:9 [ 0 => array:3 [ "nombre" => "Raquel" "apellidos" => "Lahoz Alonso" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "fn0005" ] ] ] 1 => array:4 [ "nombre" => "Paula" "apellidos" => "Sienes Bailo" "email" => array:1 [ 0 => "psienesbailo@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 2 => array:3 [ "nombre" => "María Ángeles" "apellidos" => "César Márquez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "José Carlos" "apellidos" => "Sánchez Torres" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "Javier Ignacio" "apellidos" => "Albericio Portero" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 5 => array:3 [ "nombre" => "Marcelino" "apellidos" => "Sánchez Parrilla" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 6 => array:3 [ "nombre" => "Miguel Ángel" "apellidos" => "Suárez Broto" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 7 => array:3 [ "nombre" => "Luis" "apellidos" => "Rello Varas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 8 => array:3 [ "nombre" => "Silvia" "apellidos" => "Izquierdo Álvarez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Reproducción Asistida, Hospital Materno-Infantil Universitario Miguel Servet, Zaragoza, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Urología, Hospital Universitario Miguel Servet, Zaragoza, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Microdeleciones del gen <span class="elsevierStyleItalic">AZF</span> en varones azoospérmicos-oligozoospérmicos" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Infertility is a problem that affects about 1 in 6 couples and male-related factors are responsible for half of the cases.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The factors that have been linked to male infertility are diverse (hormonal alterations, erectile dysfunction, antisperm antibodies, cystic fibrosis, exposure to chemical agents and radiation, varicocele and other) with genetic factors being behind the problem in 10% of cases, including chromosomal aneuploidies and rearrangements, microdeletions and gene variants.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">The presence of microdeletions in the AZF regions of the long arm of the Y chromosome (Yq11) is considered the most common cause of male infertility after Klinefelter's syndrome.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> This region is divided into 3 non-overlapping sub-regions (AZFa, AZFb and AZFc) and contains genes essential for spermatogenesis. The homologous recombination that can take place between the multiple palindromic repeats of these 3 subregions is the origin of the so-called Y-chromosome microdeletion, which can lead to different alterations such as Sertoli cell-only syndrome, sperm maturation arrest or hypospermatogenesis.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The incidence of YCMD in infertile men varies between 1 and 55.5% in the different published studies,<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> but the most current EAU and ASRM guidelines report a prevalence of YCMD in men with severe oligozoospermia of 3–7 and 5%, respectively, recommending screening for Y chromosome microdeletions in men with sperm counts below 5 million sperm/mL.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7,8</span></a> In addition, the hormonal alterations most commonly described in the literature in relation to azoospermia or severe oligozoospermia are increased FSH and LH levels and decreased TT, both related to impaired spermatogenesis. PRL analysis in the context of male infertility is indicated when a pattern of hypogonadotropic hypogonadism is observed.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The present study aims to calculate the frequency of YCMD in patients under study for male infertility who came for genetic testing to the Clinical Genetics Unit of HUMS, a reference centre for these type of studies in Aragon, from October 2006 to December 2019, as well as to analyse the results in comparison with previous literature. On the other hand, the objective is to develop a protocol that allows for the appropriate referral of azoospermic and oligozoospermic males from the Urology or Assisted Reproduction Departments of HUMS for appropriate genetic studies based on their seminal parameters and hormone levels. Finally, the aim is to establish a cost-effective cut-off point of sperm count for the performance of YCMD tests in these patients.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Patients and methods</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Subjects/patients</span><p id="par0025" class="elsevierStylePara elsevierViewall">This retrospective descriptive analysis included data from 644 men undergoing an infertility study by the Clinical Genetics Section of HUMS (Zaragoza, Spain) between October 2006 and December 2019. The patients included belonged to Health Sectors I and II of our autonomous community and were referred from the Urology and Assisted Reproduction Departments to the Clinical Genetics Section for the completion of a YCMD test. Demographic and laboratory data were collected to conduct this study.</p><p id="par0030" class="elsevierStylePara elsevierViewall">All patients underwent a study of seminal parameters (including seminal volume, pH and sperm count), hormonal parameters (including FSH, LH, TT and PRL determinations), YCMD screening and karyotyping.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Type of sample</span><p id="par0035" class="elsevierStylePara elsevierViewall">For YCMD screening, genomic DNA extraction was carried out from peripheral blood samples with EDTA and peripheral blood samples were collected in tubes with sodium heparin for karyotype analysis. Semen samples for semen analysis were collected in sterile containers after a period of 2–7 days of sexual abstinence following WHO recommendations for sperm volume, pH and sperm count.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> For hormone analysis, peripheral blood samples were collected in Vacutainer™ tubes (Becton, Dickinson and Company, BD; East Rutherford, NJ, USA) with separator gel.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Methods/techniques</span><p id="par0040" class="elsevierStylePara elsevierViewall">For YCMD screening, we first studied the presence or absence of 6 STS located in the 3 AZF subregions: sY84 and sY86 (AZFa); sY127 and sY134 (AZFb) and sY254 and sY255 (AZFc), as well as the <span class="elsevierStyleItalic">SRY</span> gene and the ZFX/ZFY counterparts. In those patients in whom the presence of microdeletions was confirmed in any of the regions studied, an extended YCMD test was performed, in a new patient sample, in which the presence or absence of 16 STS was studied: sY82, sY83, sY84, sY86, sY87 and sY88 (AZFa region); sY114, sY127, sY134, sY135 and sY143 (AZFb region) and sY152, sY157, sY158 and sY254 (AZFc region) and sY160 (heterochromatic region), as well as the gene <span class="elsevierStyleItalic">SRY</span> and the ZFX/ZFY counterparts. Both studies were performed using YChromStrip (Operón, Zaragoza, Spain), using the reverse hybridisation technique and conventional PCR with specific primers, according to the EAA and EMQN guidelines.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> The Genetics Laboratory has been successfully participating in the EMQN External Quality Control Programme since 2015 for quality assurance, thus ensuring the accuracy of the results issued with this technique.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Karyotype analysis was performed on metaphase chromosome spreads of peripheral blood lymphocytes cultured in Panserin 413 medium at 37°C for 72 h. The GTG banding pattern was obtained by the standard procedure of digestion with trypsin and Giemsa staining and the QFQ banding was obtained after staining with quinacrine, acridine, DAPI and chromomycin and observation under a fluorescence microscope.</p><p id="par0050" class="elsevierStylePara elsevierViewall">Serum levels of FSH, LH, TT, and PRL were measured on the DxI 800 analyser (Beckman Coulter, Brea, CA, USA) by chemiluminescence immunoassay. Sperm counts were performed using a Leica DM1000 LED microscope (Leica Microsystems, Wetzlar, Germany) interfaced with the Sperm Class Analyzer® CASA System software (Microptic, Barcelona, Spain).</p><p id="par0055" class="elsevierStylePara elsevierViewall">Patients were classified according to sperm count (×10<span class="elsevierStyleSup">6</span> sperm/mL)<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a> into the following excluding categories: <1 (severe oligozoospermia), 1−5 (moderate oligozoospermia), 5−15 (mild oligozoospermia), >15 (normospermic), and the result of the YCMD test obtained was recorded in each case.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Statistical analysis</span><p id="par0060" class="elsevierStylePara elsevierViewall">The frequency distribution of the percentages of each category for each qualitative variable and the corresponding indicators of central tendency and dispersion were calculated. Differences in age, seminal parameters and hormone levels in patients with and without YCMD were analysed using nonparametric Mann–Whitney U tests after having analysed all quantitative variables included in the study using the Shapiro–Wilk test (goodness-of-fit test for a normal distribution). Data were analysed using the Jamovi 1.1.9.0 statistical software (The Jamovi project, Sydney, Australia) and statistical significance was determined at p ≤ 0.05.</p></span></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">Results</span><p id="par0065" class="elsevierStylePara elsevierViewall">The frequency of microdeletions in our sample was reported to be 3.88% (25/644). Of the 25 patients with YCMD, 14 of them were azoospermic, 8 had severe oligozoospermia with sperm count <10<span class="elsevierStyleSup">6</span>/mL and 3 of them had moderate oligozoospermia with 1−5 × 10<span class="elsevierStyleSup">6</span>/mL. No microdeletions were detected in any normospermic or mild oligozoospermic patient (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). When calculating the frequency of microdeletions in the different groups according to their sperm count, it can be seen that it is much higher in azoospermic patients (14.58%, 14/96) and severe oligozoospermic patients (6, 72%, 8/119), decreases in patients with moderate oligozoospermia (1.83%, 3/164) and becomes nil in patients with sperm counts above 5 × 10<span class="elsevierStyleSup">6</span>/mL.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0070" class="elsevierStylePara elsevierViewall">Deletions in the AZFc region were the most common (68%, 17/25), followed by AZFbc (16%, 4/25), complete and partial AZFb (8%, 2/25), AZFa (4%, 1/25) and AZFabc (4%, 1/25). The microdeletion patterns of these patients and their karyotype are listed in <a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a>. The 3 patients with YCMD and moderate oligozoospermia (1−5 × 10<span class="elsevierStyleSup">6</span>/mL) had deletions in the AZFc region, as did the 8 patients with YCMD and severe oligozoospermia (<1 × -10<span class="elsevierStyleSup">6</span>/mL). Deletions in the AZFa and AZFb regions or those involving large AZF fragments (AZFbc and AZFabc) were only found in patients with azoospermia, with significant differences between the type of microdeletion found and sperm count in the group of patients with YCMD (<span class="elsevierStyleItalic">K</span> = 6.06; p = 0,048).</p><elsevierMultimedia ident="tbl0010"></elsevierMultimedia><p id="par0075" class="elsevierStylePara elsevierViewall">All YCMD patients were karyotyped and 20% (5/25) of them were found to have some kind of abnormality including aneuploidies, deletions, duplications and translocations. All patients with AZFb and AZFc deletions had normal karyotypes, in contrast to those with AZFa, AZFbc (with one exception) or AZFabc deletions, who had different anomalies (<a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a>).</p><p id="par0080" class="elsevierStylePara elsevierViewall">Demographic data, semen parameters and average hormone concentrations of the study population with and without Y-chromosome microdeletions are summarised in <a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a>.</p><elsevierMultimedia ident="tbl0015"></elsevierMultimedia><p id="par0085" class="elsevierStylePara elsevierViewall">The median age was 34 years (IQR 33–37) for patients with microdeletions and 36 (IQR 33–39) for patients without microdeletions, with no significant differences between the two (<span class="elsevierStyleItalic">U</span> = 6,398; p = 0.141) (<a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a>). Sperm count was significantly lower in patients with YCMD than in those without microdeletions (<span class="elsevierStyleItalic">U</span> = 2,445; p < 0.001), unlike the seminal volume (<span class="elsevierStyleItalic">U</span> = 3,535; p = 0.562) and pH (<span class="elsevierStyleItalic">U</span> = 3,091; p = 0.268), in which no significant differences were found. As for the analysis of hormone levels, FSH and LH were found to be significantly higher in the group of patients with microdeletions (<span class="elsevierStyleItalic">U</span> = 3. 515; p = 0.003 and <span class="elsevierStyleItalic">U</span> = 3.178; p = 0.008; respectively). No significant differences were found in the TT and PRL levels of both groups (<span class="elsevierStyleItalic">U</span> = 3. 121; p = 0.933 and <span class="elsevierStyleItalic">U</span> = 964; p = 0.508; respectively).</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">Discussion</span><p id="par0090" class="elsevierStylePara elsevierViewall">Microdeletions in the AZF region of the Y chromosome were studied in 644 infertile males from Aragon, finding a frequency of 3.88%. Considering only the group of azoospermic patients, the frequency of YCMD increased to 14.58%. The frequency of YCMD has been reported to vary between 1.3 and 10.7% in different studies, and our results are consistent with these data.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">13–15</span></a> The estimated global prevalence of YCMD in infertile men is 7%, although it varies by geographic area, with Europe (3%) and Australia (5.3%) being lowest, and averaging 8–9 % in the rest of the world.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> The discrepancy and wide variation in the frequency of these deletions may be due to ethnic differences, sample size, patient selection criteria, methodological aspects, and even the type and number of markers studied.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">In the present study, deletion of the AZFc region was the most common (68%). This is followed by AZFbc, AZFb complete and partial, AZFa and AZFabc. AZFc deletion is the most common pattern of YCMD in patients with azoospermia and oligozoospermia, as reflected in numerous studies,<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">12,15,17–21</span></a> with an overall estimate of 60–70 %,<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> in agreement with the results found. However, in some populations there are exceptions, as is the case of Iran, whose most common deletion is found in the AZFb region.<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">22</span></a> At the moment there is no conclusive information as to why the AZFc region is the most commonly deleted region, but the repetitive sequences found there could be the cause. The frequency of the rest of the deleted regions is not as uniform, with greater variability depending on the study population.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">15</span></a></p><p id="par0100" class="elsevierStylePara elsevierViewall">One of the current issues is what should be the sperm count threshold that would recommend performing a YCMD test. In our study, only 3 patients with moderate oligozoospermia (with 1, 1.5 and 4 × 10<span class="elsevierStyleSup">6</span> sperm/mL, respectively) had YCMD, the rest were azoospermic or severely oligozoospermic. The threshold recommended by the EAA is a sperm count <5 million/mL.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> As in other studies, most YCMD patients are azoospermic and are rarely found in individuals with sperm counts >2 million/mL in our sample.<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">12,15,23,24</span></a> Thus, the threshold recommended by the EAA is controversial. As shown in the literature, lowering the threshold would improve test specificity without significantly affecting sensitivity, while reducing costs.<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">15,23</span></a> For this reason, the authors consider the cut-off point of a sperm count <1 million/mL as the most cost-effective way to study YCMD.</p><p id="par0105" class="elsevierStylePara elsevierViewall">Sex hormones, especially FSH, LH, and TT, are important parameters for male infertility. We found significantly higher FSH and LH levels in the YCMD group of patients in our study. However, the results found in the literature vary. Johnson et al. reported higher FSH levels as a significant predictor of the presence of these deletions,<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> while other authors, although detecting higher levels of these hormones and lower levels of TT in patients with YCMD, found no significant differences.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6,17,22,24</span></a><span class="elsevierStyleSup">,</span><a class="elsevierStyleCrossRef" href="#bib0125"><span class="elsevierStyleSup">25</span></a> Further research is therefore needed before firm conclusions can be drawn.</p><p id="par0110" class="elsevierStylePara elsevierViewall">In routine clinical practice, karyotype and YCMD analysis are performed simultaneously.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> Thus, in our sample we found 20% of cases with both defects (<a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a>). Currently, there is no consensus about the existence of an association between Klinefelter syndrome (47, XXY) and the presence of YCMD. While some studies have not identified microdeletions in patients with this syndrome, there are other publications that demonstrate the possible coexistence of both conditions.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11,26</span></a> The present study includes one case of partial deletion of the AZFa region in conjunction with this chromosomal abnormality. Consistent with other research, abnormalities found in the patients' karyotypes include sex chromosomes, especially mosaicism (45,X/46,XY).<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">13,27–29</span></a></p><p id="par0115" class="elsevierStylePara elsevierViewall">Given the results obtained, a protocol for approaching genetic studies in men with severe azoospermia/oligozoospermia has been proposed in our center. In this way, the YCMD test will be indicated in all those patients with a sperm count <1 million/mL after 2 semen analysis. In addition, the hormonal study should indicate the presence of hypergonadotropic hypogonadism with elevated FSH and LH. Karyotyping will be carried out at the same time.</p><p id="par0120" class="elsevierStylePara elsevierViewall">It is important to perform YCMD testing in the appropriate cases as it allows identification of the cause of infertility and a prediction of its prognosis. Furthermore, depending on the type of YCMD present, it is possible to predict the outcome of testicular sperm retrieval, as well as the expected success if assisted reproductive techniques were to be performed. Also, the transmission of these genetic defects to offspring can be prevented through proper genetic counselling.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> Finally, data have recently emerged showing that genes at the <span class="elsevierStyleItalic">AZF</span> loci on the Y chromosome are also expressed in somatic tissues and the protein products of these genes have diverse functions, including regulation of gene transcription and translation. This implies that the <span class="elsevierStyleItalic">AZF</span> genes may have significance beyond the regulation of spermatogenesis.<a class="elsevierStyleCrossRef" href="#bib0150"><span class="elsevierStyleSup">30</span></a></p><p id="par0125" class="elsevierStylePara elsevierViewall">As limitations, it should be noted that this is a retrospective study, so in some cases complete information was not available. Moreover, sperm count is not the only determinant of YCMD prevalence. Other factors such as andrological history should be taken into account. In our case, the available clinical information, documented personal and family history and physical examination data were neither complete nor consistent for all patients in the study, so no data concerning these are shown in this article. This fact, together with the small number of patients with a positive genetic study for YCMD, could have distorted the results obtained, calling for further studies and research to corroborate these data. On the other hand, patients belonging to Sector Zaragoza III and those studied in private centres were not included in this study, thus reducing the potential sample of infertile patients in our autonomous community.</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0110">Conclusions</span><p id="par0130" class="elsevierStylePara elsevierViewall">The type of YCMD provides effective information for the clinical diagnosis and management of male infertility. The correct screening of these abnormalities allows the selection of appropriate medical or surgical treatments for these patients, as well as the correct genetic counselling for them and their offspring, suggesting that it should be carried out in infertile males with sperm counts of <1 million/mL.</p></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0115">Ethical considerations</span><p id="par0135" class="elsevierStylePara elsevierViewall">The Research Ethics Committee of the Autonomous Community of Aragon (CEICA) approved this research project, with project code PI20/236.</p></span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0120">Funding</span><p id="par0140" class="elsevierStylePara elsevierViewall">This research has not received specific funding from public or private sector agencies or non-profit organisations.</p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0125">Conflict of interests</span><p id="par0145" class="elsevierStylePara elsevierViewall">None.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:15 [ 0 => array:3 [ "identificador" => "xres1851323" "titulo" => "Abstract" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Background and objective" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Patients and methods" ] 2 => array:2 [ "identificador" => "abst0015" "titulo" => "Results" ] 3 => array:2 [ "identificador" => "abst0020" "titulo" => "Conclusions" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1609770" "titulo" => "Keywords" ] 2 => array:2 [ "identificador" => "xpalclavsec1609771" "titulo" => "Abbreviations" ] 3 => array:3 [ "identificador" => "xres1851324" "titulo" => "Resumen" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0025" "titulo" => "Antecedentes y objetivo" ] 1 => array:2 [ "identificador" => "abst0030" "titulo" => "Pacientes y métodos" ] 2 => array:2 [ "identificador" => "abst0035" "titulo" => "Resultados" ] 3 => array:2 [ "identificador" => "abst0040" "titulo" => "Conclusiones" ] ] ] 4 => array:2 [ "identificador" => "xpalclavsec1609769" "titulo" => "Palabras clave" ] 5 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 6 => array:3 [ "identificador" => "sec0010" "titulo" => "Patients and methods" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0015" "titulo" => "Subjects/patients" ] 1 => array:2 [ "identificador" => "sec0020" "titulo" => "Type of sample" ] 2 => array:2 [ "identificador" => "sec0025" "titulo" => "Methods/techniques" ] 3 => array:2 [ "identificador" => "sec0030" "titulo" => "Statistical analysis" ] ] ] 7 => array:2 [ "identificador" => "sec0035" "titulo" => "Results" ] 8 => array:2 [ "identificador" => "sec0040" "titulo" => "Discussion" ] 9 => array:2 [ "identificador" => "sec0045" "titulo" => "Conclusions" ] 10 => array:2 [ "identificador" => "sec0050" "titulo" => "Ethical considerations" ] 11 => array:2 [ "identificador" => "sec0055" "titulo" => "Funding" ] 12 => array:2 [ "identificador" => "sec0060" "titulo" => "Conflict of interests" ] 13 => array:2 [ "identificador" => "xack652598" "titulo" => "Acknowledgements" ] 14 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2022-02-27" "fechaAceptado" => "2022-06-09" "PalabrasClave" => array:2 [ "en" => array:2 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1609770" "palabras" => array:5 [ 0 => "Male infertility" 1 => "Y-chromosome microdeletions" 2 => "Azoospermia" 3 => "Oligozoospermia" 4 => "Reproductive hormones" ] ] 1 => array:4 [ "clase" => "abr" "titulo" => "Abbreviations" "identificador" => "xpalclavsec1609771" "palabras" => array:16 [ 0 => "ASRM" 1 => "AZF" 2 => "CEICA" 3 => "EAA" 4 => "EAU" 5 => "EDTA" 6 => "MQN" 7 => "FSH" 8 => "HUMS" 9 => "LH" 10 => "WHO" 11 => "PCR" 12 => "PRL" 13 => "STS" 14 => "TT" 15 => "YCMD" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1609769" "palabras" => array:5 [ 0 => "Infertilidad masculina" 1 => "Microdeleciones del cromosoma Y" 2 => "Azoospermia" 3 => "Oligozoospermia" 4 => "Hormonas reproductivas" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:3 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Background and objective</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">The presence of microdeletions in the Y-chromosome azoospermia factor (AZF) region (YCMs) is considered the most frequent genetic cause of male infertility along with Klinefelter syndrome. The objective of this study was to investigate the frequencies and type of YCMs in infertile men in Aragon and to analyze the relationship between sex hormones, sperm count and microdeletions in them.</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Patients and methods</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Retrospective descriptive study of 644 men who during 2006–2019 were screened for YCMs using YChromStrip (Operón, Spain) by PCR + reverse hybridization, spermiogram, karyotype and quantification of sex hormones.</p></span> <span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Results</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">The frequency of YCMs was 3.88% (25/644), not being detected in any patient with mild or normospermic oligozoospermia, that is, in sperm counts higher than 5 × 10<span class="elsevierStyleSup">6</span>/mL. The group of azoospermic patients was the one that presented a higher frequency of YCMs (14.58%, 14/96). Deletions in the AZFc region were the most frequent (68%). 20% (5/25) of patients with YCMs also presented some type of karyotype abnormality that included aneuploidies, deletions, duplications and/or translocations. Sperm count was significantly lower and FSH and LH concentrations significantly higher in the group of patients with YCMs.</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conclusions</span><p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">YCMs screening is a key test in the diagnostic approach to male infertility. Obtaining an adequate result allows choosing suitable assisted reproduction techniques, preventing unnecessary treatments and the transmission of genetic defects to offspring.</p></span>" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Background and objective" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Patients and methods" ] 2 => array:2 [ "identificador" => "abst0015" "titulo" => "Results" ] 3 => array:2 [ "identificador" => "abst0020" "titulo" => "Conclusions" ] ] ] "es" => array:3 [ "titulo" => "Resumen" "resumen" => "<span id="abst0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Antecedentes y objetivo</span><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">La presencia de microdeleciones en las regiones del factor de azoospermia (AZF) del cromosoma Y (YCMs) se considera la causa genética más frecuente de infertilidad masculina junto con el síndrome de Klinefelter. El objetivo del estudio fue investigar las frecuencias y tipo de YCMs en hombres infértiles en Aragón y analizar la relación entre las hormonas sexuales, la concentración espermática y las microdeleciones en ellos.</p></span> <span id="abst0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Pacientes y métodos</span><p id="spar0055" class="elsevierStyleSimplePara elsevierViewall">Estudio descriptivo retrospectivo de 644 varones durante 2006–2019 a los que se les realizo el cribado para YCMs mediante YChromStrip (Operón, España) por PCR + hibridación reversa, espermiograma, cariotipo y medición de las hormonas sexuales.</p></span> <span id="abst0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Resultados</span><p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">La frecuencia de YCMs fue del 3,88% (25/644), no detectándose en ningún paciente con oligozoospermia leve ni normospérmico, es decir, en recuentos espermáticos superiores a 5 × 10<span class="elsevierStyleSup">6</span>/mL. El grupo de pacientes azoospérmicos fue el que presentó una frecuencia de YCMs más elevada (14,58%, 14/96). Las deleciones en la región AZFc fueron las más frecuentes (68%). El 20% (5/25) de pacientes con YCMs presentó además algún tipo de anomalía en el cariotipo que incluyeron aneuploidias, deleciones, duplicaciones y/o translocaciones. La concentración espermática fue significativamente menor y las concentraciones de FSH y LH significativamente mayores en el grupo de pacientes con YCMs.</p></span> <span id="abst0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conclusiones</span><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">El cribado de YCMs es una prueba clave en el abordaje diagnóstico de la infertilidad masculina. La obtención de un resultado genético adecuado permite elegir técnicas de reproducción asistida idóneas, prevenir tratamientos innecesarios y la transmisión de defectos genéticos a la descendencia.</p></span>" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0025" "titulo" => "Antecedentes y objetivo" ] 1 => array:2 [ "identificador" => "abst0030" "titulo" => "Pacientes y métodos" ] 2 => array:2 [ "identificador" => "abst0035" "titulo" => "Resultados" ] 3 => array:2 [ "identificador" => "abst0040" "titulo" => "Conclusiones" ] ] ] ] "NotaPie" => array:1 [ 0 => array:3 [ "etiqueta" => "1" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Current address: Servicio de Análisis Clínicos, Hospital Ernest Lluch, Carretera de Sagunto s/n. 50300 Calatayud (Zaragoza), Spain.</p>" "identificador" => "fn0005" ] ] "multimedia" => array:3 [ 0 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:1 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Without microdeletions \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">With microdeletions \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Total \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleItalic">No. patients</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">619 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">25 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">644 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead colgroup " colspan="4" align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleItalic">Sperm count (sperm × 10<span class="elsevierStyleSup">6</span>/mL)</span></td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Azoospermia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">82 (13.3) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">14 (56.0) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">96 (14.9) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span><1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">111 (17.9) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">8 (32.0) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">119 (18.5) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>1−5 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">161 (26.0) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3 (12.0) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">164 (25.4) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>5−15 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">128 (20.7) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 (0.0) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">128 (19.9) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>>15 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">137 (22.1) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 (0.0) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">137 (21.3) \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Frequency of Y-chromosome microdeletions in the infertile males under study according to sperm count in terms of absolute and relative frequencies: No. (%).</p>" ] ] 1 => array:8 [ "identificador" => "tbl0010" "etiqueta" => "Table 2" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">A, Abnormal; N, Normal; STS, Sequence tagged sites.</p>" "tablatextoimagen" => array:1 [ 0 => array:1 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col">Deleted AZF \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col">Deleted STS \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col">Patients \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td-with-role" title="\n \t\t\t\t\ttable-head\n \t\t\t\t ; entry_with_role_colgroup " colspan="2" align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Karyotype</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col">Abnormal karyotypes \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">N \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">A \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Partial AZFa \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">sY84 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 (4%) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">47,XXY \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">AZFb \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">sY127 and sY134 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 (4%) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">partial AZFb \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">sY134 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 (4%) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">AZFc \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">sY254, sY255 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">17 (68%) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">17 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">AZFbc \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">sY127, sY134, sY254, sY255 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4 (16%) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">46,XYq-(n = 2)45,X (59); 46,XY (29); 47,XYY (12) (n = 1) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">AZFabc \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">sY84, sY86, sY127, sY134, sY254, sY255 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 (4%) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">45,XY,del(Y)(p11.2;q12); dup(9)(p23;p21) + der(9) t(Y;9)(p11.3;p24) \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Males with Y-chromosome microdeletions, deleted AZF region, and karyotypes.</p>" ] ] 2 => array:8 [ "identificador" => "tbl0015" "etiqueta" => "Table 3" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">FSH, Follicle-stimulating hormone; LH, Luteinizing hormone; PRL, Prolactin; TT, Total testosterone.</p>" "tablatextoimagen" => array:1 [ 0 => array:1 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Without microdeletions \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">With microdeletions \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Total \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleItalic">Age (years)</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">36.30 ± 4.77 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">34.80 ± 4.59 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">36.30 ± 4.77 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead colgroup " colspan="4" align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleItalic">Semen analysis</span></td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Volume (ml) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3.37 ± 1.70 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3.51 ± 1.46 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3.38 ± 1.69 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>pH \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">8.03 ± 0.28 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">7.98 ± 0.20 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">8.03 ± 0.28 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Sperm count (×10<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a>/mL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">11.40 ± 21.90 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0.42 ± 0.89 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">11.00 ± 21.60 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_colgroup " colspan="4" align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead colgroup " colspan="4" align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleItalic">Hormone analysis</span></td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>FSH (mIU/mL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">10.20 ± 10.50 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">16.10 ± 12.70 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">10.40 ± 10.60 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>LH (mIU/mL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4.88 ± 3.59 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">6.55 ± 3.20 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4.92 ± 3.59 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>TT (ng/mL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4.45 ± 1.59 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4.58 ± 1.74 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4.45 ± 1.59 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>PRL (ng/mL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">13.00 ± 8.86 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">12.70 ± 4.52 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">13.00 ± 8.68 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Age, seminal parameters and mean hormone concentrations in the infertile males studied with and without Y-chromosome microdeletions.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:30 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetics of male infertility" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "J.M. 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Thanks to all the staff of the Genetics Unit of the HUMS Clinical Biochemistry Department.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000016000000004/v1_202302191857/S2387020623000268/v1_202302191857/en/main.assets" "Apartado" => array:4 [ "identificador" => "43310" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Original articles" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000016000000004/v1_202302191857/S2387020623000268/v1_202302191857/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623000268?idApp=UINPBA00004N" ]
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Original article
AZF gene microdeletions in azoospermic–oligozoospermic males
Microdeleciones del gen AZF en varones azoospérmicos-oligozoospérmicos