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XX male syndrome" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "438" "paginaFinal" => "439" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Macarena Moreno Balsera, María del Mar Romero Pérez, José Antonio Bermúdez de la Vega" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Macarena" "apellidos" => "Moreno Balsera" "email" => array:1 [ 0 => "macarena_mb@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "María del Mar" "apellidos" => "Romero Pérez" ] 2 => array:2 [ "nombre" => "José Antonio" "apellidos" => "Bermúdez de la Vega" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Endocrinología Pediátrica, Unidad de Gestión Clínica de Pediatría, Hospital Virgen Macarena, Sevilla, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Anomalías de la diferenciación sexual. Síndrome del varón XX" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The XX male syndrome was first described in 1964 by De la Chapelle, who called it “sex inversion in women”. This author reported patients with male phenotype and psychosexual identification in whom the gonad was of the testicular type and who had no microscopic or gross evidence of ovarian tissue and karyotype 46,XX.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Frequency of this syndrome is very low (1/20,000 live newborns). It is called the XX male syndrome, and is currently classified within sex differentiation abnormalities, a group of conditions where a defect occurs in normal fetal development of genetic sex, gonadal sex and/or external genitalia.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The XX male syndrome consists of a discordance between a male phenotype and a female karyotype. During sex differentiation occurring between the fifth and seventh weeks of embryonic development, anti-müllerian hormone (AMH) is sufficient in these patients to inhibit development of müllerian structures, with complete differentiation of wolffian derivatives and adequate masculinization of external genitalia. Spermatogenesis is highly deficient or absent, and patients are therefore infertile. However, Leydig cells have a variable development, and produce sufficient androgens to ensure marked post-pubertal virilization.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Most patients have normal male phenotype, but hypospadias, cryptorchidism, and ambiguous genitalia have been reported in 10–15% of cases. Diagnosis is made at pubertal age, when the most common clinical and laboratory signs occur: gynecomastia, hypogonadism, shorter penile length, and infertility due to oligospermia or azoospermia. Height is usually normal, and well as psychomotor development and intellectual capacity.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">As regards management after diagnosis, regular monitoring, closer in puberty, is done, and repair surgery and psychological support is offered.</p><p id="par0030" class="elsevierStylePara elsevierViewall">We report the case of a one month-old infant who was referred for balanic hypospadias, a supernumerary first finger, and agenesis of the second finger in both hands. Physical examination was otherwise normal. As was genital examination, which revealed a well developed scrotum containing testes 2<span class="elsevierStyleHsp" style=""></span>mL in volume and a 2.9<span class="elsevierStyleHsp" style=""></span>cm long penis (P50 for age) of normal thickness and with erectile capacity. The infant had no remarkable family and personal history. Because of the described physical abnormalities, karyotype was requested and was reported to be 46, XX, with no detection of the SRY gene by FISH (46, XX; SRY(−)). Hormone tests performed included AMH, testosterone precursors (5-DHT; 17-OH progesterone; 17-OH pregnenolone), LH, and FSH; basal serum levels were normal for males. Ultrasonography and abdominal and pelvic MRI were also normal for a male. Abnormal sex differentiation consisting of a XX male syndrome with no SRY detection was diagnosed. Genetic study should be elaborated on at this point.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The XX male syndrome is a very uncommon condition (1–9 cases per 1,000,000 males) difficult to diagnose before puberty or adult age due to the scarcity or absence of physical manifestations. It may be suspected in a newborn with perineal hypospadias and cryptorchidism. Our case was diagnosed by chance when karyotyping was requested due to abnormalities seen in both fingers, plus hypospadias.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Clinical suspicion is based on physical examination and is supported by hormone testing. Diagnosis of certainty is genetic, based on the finding of the karyotype 46, XX.</p><p id="par0045" class="elsevierStylePara elsevierViewall">During sex differentiation, genetic sex determines gonadal sex from the sixth month of pregnancy. The undifferentiated gonad spontaneously tends to female sex. Masculinization starts by the action of the testicular development factor (TDF), encoded by the SRY gene, which will lead to differentiation of the seminiferous cord that contains pre-Sertoli cells (secreting AMH) and spermatogonia. AMH causes disappearance of müllerian ducts (and the resultant absence of Fallopian ducts, uterus, and vagina), while androgens secreted by Leydig cells will determine differentiation of Wolffian ducts into epididymis, deferent ducts, and seminal vesicles. Decreased testicular testosterone production in cases with hypogonadism causes in some patients abnormalities in the external genitalia.</p><p id="par0050" class="elsevierStylePara elsevierViewall">AMH production by Sertoli cells in testes remains high during infancy, but decreases to low levels during puberty and adult life. In recent years, AMH measurement is widely used to assess testicular presence and function in boys with hermaphroditic conditions or ambiguous genitalia.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The sex-determining region Y (SRY) gene, critical for male sex differentiation, is located in the short arm of chromosome Y. In most cases of XX male syndrome, translocation occurs in meiosis between chromosomes X and Y, and the SRY gene is located in chromosome X. However, this gene is not identified in other cases, in which several hypotheses have been proposed to explain male sex differentiation. This has been attributed to mutations in some of the more than 50 genes involved, in addition to sex chromosomes, in sex differentiation, or to Klinefelter syndrome (47, XXY) with subsequent loss of chromosome Y when virilization has already started.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">The SOX9 gene is a transcription factor essential for sexual and skeletal development, and its impairment may cause from bone changes alone to a combination of sex differentiation and skeletal abnormalities. Rearrangements have been reported in the SOX9 region, including duplication in the Xq 26 region, or balanced translocations <span class="elsevierStyleItalic">t</span>(17:20) (q24.3:q11.2) and <span class="elsevierStyleItalic">t</span>(7:17) (p13:q24), which have been associated to sex reversal and skeletal changes.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7,8</span></a> The SOX3 gene shares the same functions as the SRY gene. Mutations causing changes or overexpression of this gene may induce male sex differentiation in individuals with 46, XX chromosomal endowment.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Treatment of the XX male syndrome consists of repair surgery for gynecomastia, hypospadias, and cryptorchidism by testicular descent and orchiopexy, and even testicular prostheses. Prenatal diagnosis of these abnormalities is increasingly common.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Moreno Balsera M, Romero Pérez MM, Bermúdez de la Vega JA. Anomalías de la diferenciación sexual. Síndrome del varón XX. Endocrinol Nutr. 2014;61:438–439.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Analytic review: nature and origin of males with XX sex chromosomes" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "A. 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Year/Month | Html | Total | |
---|---|---|---|
2024 November | 189 | 3 | 192 |
2024 October | 1700 | 17 | 1717 |
2024 September | 1995 | 16 | 2011 |
2024 August | 3169 | 11 | 3180 |
2024 July | 959 | 12 | 971 |
2024 June | 660 | 15 | 675 |
2024 May | 448 | 13 | 461 |
2024 April | 537 | 4 | 541 |
2024 March | 459 | 6 | 465 |
2024 February | 540 | 13 | 553 |
2024 January | 615 | 11 | 626 |
2023 December | 799 | 21 | 820 |
2023 November | 712 | 11 | 723 |
2023 October | 671 | 12 | 683 |
2023 September | 589 | 16 | 605 |
2023 August | 332 | 9 | 341 |
2023 July | 481 | 10 | 491 |
2023 June | 547 | 13 | 560 |
2023 May | 559 | 11 | 570 |
2023 April | 419 | 12 | 431 |
2023 March | 278 | 4 | 282 |
2023 February | 283 | 13 | 296 |
2023 January | 386 | 8 | 394 |
2022 December | 329 | 12 | 341 |
2022 November | 410 | 16 | 426 |
2022 October | 315 | 15 | 330 |
2022 September | 237 | 30 | 267 |
2022 August | 191 | 22 | 213 |
2022 July | 273 | 17 | 290 |
2022 June | 179 | 16 | 195 |
2022 May | 239 | 15 | 254 |
2022 April | 205 | 22 | 227 |
2022 March | 311 | 8 | 319 |
2022 February | 305 | 12 | 317 |
2022 January | 326 | 13 | 339 |
2021 December | 354 | 15 | 369 |
2021 November | 312 | 13 | 325 |
2021 October | 278 | 21 | 299 |
2021 September | 204 | 21 | 225 |
2021 August | 98 | 8 | 106 |
2021 July | 60 | 10 | 70 |
2021 June | 63 | 4 | 67 |
2021 May | 98 | 18 | 116 |
2021 April | 179 | 12 | 191 |
2021 March | 124 | 19 | 143 |
2021 February | 116 | 20 | 136 |
2021 January | 132 | 11 | 143 |
2020 December | 153 | 5 | 158 |
2020 November | 106 | 8 | 114 |
2020 October | 54 | 9 | 63 |
2020 September | 112 | 11 | 123 |
2020 August | 120 | 14 | 134 |
2020 July | 75 | 15 | 90 |
2020 June | 40 | 8 | 48 |
2020 May | 69 | 10 | 79 |
2020 April | 79 | 7 | 86 |
2020 March | 94 | 10 | 104 |
2020 February | 117 | 7 | 124 |
2020 January | 90 | 6 | 96 |
2019 December | 118 | 16 | 134 |
2019 November | 88 | 13 | 101 |
2019 October | 69 | 8 | 77 |
2019 September | 67 | 5 | 72 |
2019 August | 66 | 10 | 76 |
2019 July | 111 | 26 | 137 |
2019 June | 193 | 22 | 215 |
2019 May | 284 | 30 | 314 |
2019 April | 106 | 16 | 122 |
2019 March | 74 | 60 | 134 |
2019 February | 54 | 19 | 73 |
2019 January | 40 | 6 | 46 |
2018 December | 27 | 3 | 30 |
2018 November | 37 | 6 | 43 |
2018 October | 28 | 5 | 33 |
2018 September | 21 | 3 | 24 |
2018 August | 3 | 3 | 6 |
2018 July | 11 | 4 | 15 |
2018 June | 6 | 1 | 7 |
2018 May | 13 | 2 | 15 |
2018 April | 13 | 5 | 18 |
2018 March | 15 | 1 | 16 |
2018 February | 12 | 2 | 14 |
2018 January | 13 | 2 | 15 |
2017 December | 14 | 4 | 18 |
2017 November | 10 | 5 | 15 |
2017 October | 23 | 4 | 27 |
2017 September | 14 | 2 | 16 |
2017 August | 29 | 4 | 33 |
2017 July | 23 | 4 | 27 |
2017 June | 33 | 18 | 51 |
2017 May | 31 | 4 | 35 |
2017 April | 27 | 13 | 40 |
2017 March | 34 | 21 | 55 |
2017 February | 48 | 1 | 49 |
2017 January | 19 | 4 | 23 |
2016 December | 21 | 4 | 25 |
2016 November | 22 | 9 | 31 |
2016 October | 43 | 7 | 50 |
2016 September | 18 | 5 | 23 |
2016 August | 12 | 3 | 15 |
2016 July | 21 | 1 | 22 |
2016 June | 21 | 4 | 25 |
2016 May | 24 | 13 | 37 |
2016 April | 15 | 10 | 25 |
2016 March | 12 | 10 | 22 |
2016 February | 28 | 10 | 38 |
2016 January | 15 | 3 | 18 |
2015 December | 29 | 8 | 37 |
2015 November | 19 | 6 | 25 |
2014 November | 1 | 0 | 1 |
2014 October | 0 | 1 | 1 |