Scientific letter
Complications related to Turner syndrome
Complicaciones asociadas a niñas con síndrome de Turner
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class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Francisco Javier" "apellidos" => "Redondo Calvo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Enrique" "apellidos" => "Galán Gómez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital General de Ciudad Real, Ciudad Real, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Anestesiología y Reanimación, Hospital General de Ciudad Real, Ciudad Real, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Sección de Genética, Servicio de Pediatría, Hospital Materno-Infantil de Badajoz, Badajoz, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Complicaciones asociadas a niñas con síndrome de Turner" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1500 "Ancho" => 2376 "Tamanyo" => 273781 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical profile of the patients.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Turner syndrome is a chromosomal disease defined as the combination of characteristic phenotypic traits and the complete or partial absence of one of the X chromosomes, often accompanied by cell line mosaicism.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">The estimated frequency of this syndrome is 1/2500 live births, although the true prevalence is difficult to establish because those patients with a poorly defined phenotype may remain undiagnosed for years.</p><p id="par0015" class="elsevierStylePara elsevierViewall">It is characterized by female phenotype, short stature, infantilism following gonadal dysgenesis, absence of puberty and dysmorphic features (sphinx-like facies, low implantation auricles, short neck, cubitus valgus).</p><p id="par0020" class="elsevierStylePara elsevierViewall">It is important to emphasize that these patients have a high risk of developing other associated complications and congenital malformations, mainly cardiovascular (35%)<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> and renal (35–70%).<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The objective of this study is to know the clinical profile of the patients and the associated complications.</p><p id="par0030" class="elsevierStylePara elsevierViewall">A descriptive epidemiological study was carried out between January 1978 and January 2010 of girls (from birth to 16 years of age) diagnosed with Turner syndrome in Extremadura, including 41 patients in total.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Their <span class="elsevierStyleItalic">clinical profile</span> is shown in <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">The <span class="elsevierStyleItalic">main sign</span> which guided the diagnosis was short stature in 63% of the patients.</p><p id="par0045" class="elsevierStylePara elsevierViewall">The <span class="elsevierStyleItalic">associated complications</span> were: <span class="elsevierStyleItalic">cardiological</span> in 53% of cases, with bicuspid aorta being the most frequent (41.5%), followed by aortic stenosis (14.6%), coarctation of the aorta (7.3%) and abnormal venous drainage (4.9%); none presented mitral valve prolapse. <span class="elsevierStyleItalic">Renal</span> complications were present in 9.8% of the girls. Half of them had a pelvic kidney and the other half a horseshoe kidney. We did not find duplication of the collecting system or ureteropelvic junction obstruction. The <span class="elsevierStyleItalic">autoimmune diseases</span> were present in 56.3% of cases: autoimmune thyroiditis (22%), hypothyroidism (22% associated with thyroiditis, 17% isolated), carbohydrate intolerance (7.3%) and hypercholesterolemia (9.8%). In relation to <span class="elsevierStyleItalic">digestive complications</span>, none presented inflammatory bowel disease and celiac disease was present in 9.5% of patients. With respect to <span class="elsevierStyleItalic">skin disorders</span>, pigmented nevus (48.8%) and alopecia areata (2.4%) were observed. There were no signs of vitiligo. In reference to the <span class="elsevierStyleItalic">musculoskeletal system</span>, hip dysplasia (7.3%), scoliosis (26.8%), osteoporosis (7.3%) and genu valgum (19.5%) were recorded. Regarding the <span class="elsevierStyleItalic">middle ear</span>, recurrent otitis media (68.3%) and hearing loss (14.6%) were evaluated, which was present in girls who had previously had recurrent otitis. <span class="elsevierStyleItalic">Eye complications</span> were recorded if they had myopia (31.7%), strabismus (9.8%) and keratoconus (0%). Regarding the <span class="elsevierStyleItalic">genital organs</span>, genital hypoplasia was assessed, finding that only one girl had a risk of germ cell neoplasia, therefore, a prophylactic gonadectomy was performed (2.4%).</p><p id="par0050" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">45, X monosomy</span>, which would correspond to the “classic” Turner syndrome, was the most frequently found karyotype (41%, 17 girls) in our study. This is similar to that reported by other authors.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">We did not observe statistically significant differences between the signs and symptoms shown and their karyotype (establishing 2 study groups: 45, X monosomy or another).</p><p id="par0060" class="elsevierStylePara elsevierViewall">In relation to the karyotype and the occurrence of complications, we found statistically significant differences for the association between 45, X monosomy and hypothyroidism with <span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>0.05. The frequency of hypothyroidism in girls with 45, X monosomy was 59% compared to 25% in patients with mosaicism (Fisher's exact test, <span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span>=<span class="elsevierStyleHsp" style=""></span>0.049).</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Final conclusions</span><p id="par0065" class="elsevierStylePara elsevierViewall">Turner's syndrome is one of the most frequent chromosomal abnormalities.</p><p id="par0070" class="elsevierStylePara elsevierViewall">There are no previous studies on the frequency of this syndrome and the complications involved in the Community of Extremadura. Knowing the characteristics of this type of patients (clinical profile and associated complications) allows the improvement of the current follow-up protocol and, therefore, a better healthcare for them.</p><p id="par0075" class="elsevierStylePara elsevierViewall">In our series, the <span class="elsevierStyleItalic">main sign</span> which guided the diagnosis in most of our patients was short stature (63%). Among <span class="elsevierStyleItalic">the clinical signs and symptoms</span>, short stature, broad chest and low posterior hairline were the most frequent findings in our patients. With respect to <span class="elsevierStyleItalic">complications</span>, they showed more cardiac involvement, less renal and similar involvement regarding autoimmune, digestive, auditory, ocular, skin and skeletal system diseases.</p><p id="par0080" class="elsevierStylePara elsevierViewall">We found no statistically significant differences in the relationship between karyotype and clinical involvement, but we found that girls with 45, X monosomy presented a higher incidence of hypothyroidism (<span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>0.05), a fact not reported by other authors in the medical literature,<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> so we believe that it is important to evaluate it in future studies with this type of patients, since it is a relevant complication in relation to the follow-up.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Final conclusions" ] 1 => array:2 [ "identificador" => "xack290989" "titulo" => "Acknowledgements" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Bejarano Ramírez N, Redondo Calvo FJ, Galán Gómez E. Complicaciones asociadas a niñas con síndrome de Turner. Med Clin (Barc). 2017;149:39–40.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1500 "Ancho" => 2376 "Tamanyo" => 273781 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical profile of the patients.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Turner syndrome: the case of the missing sex chromosome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "A.R. 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Jeppesen" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1365-2249.2009.03895.x" "Revista" => array:6 [ "tituloSerie" => "Clin Exp Immunol" "fecha" => "2009" "volumen" => "156" "paginaInicial" => "205" "paginaFinal" => "210" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19298606" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack290989" "titulo" => "Acknowledgements" "texto" => "<p id="par0085" class="elsevierStylePara elsevierViewall">We wish to thank Dr. Miguel Velasco, for his contribution to the statistical analysis.</p> <p id="par0090" class="elsevierStylePara elsevierViewall">Also, Dr. J. Arroyo and Dr. M. Nuñez, for their collaboration in data collection.</p> <p id="par0095" class="elsevierStylePara elsevierViewall">Dr. Pablo Lapunzina and Dr. Julián Nevado, for performing polymorphic STRs.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000014900000001/v1_201707230028/S2387020617303959/v1_201707230028/en/main.assets" "Apartado" => array:4 [ "identificador" => "43311" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000014900000001/v1_201707230028/S2387020617303959/v1_201707230028/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020617303959?idApp=UINPBA00004N" ]
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