The etiology of maleness in XX men

Chapelle, Albert de la

doi:10.1007/bf00284157

Cited by 223 publications

(106 citation statements)

References 56 publications

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“…Clinical features in patients with XX male are similar to those in Klinefelter syndrome. These patients frequently have atrophic testes, a small penis, gynecomastia, and azoospermia [2]. In contrast with patients with Klinefelter syndrome, XX males are shorter than normal XY males.…”

Section: Discussionmentioning

confidence: 98%

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Localization of the Sex-Determining Region-Y Gene in Xx Males

Suzuki

Sasagawa²,

Yazawa³

et al. 2000

Archives of Andrology

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Section: Discussionmentioning

confidence: 98%

“…46,XX male is a rare disorder that occurs with a frequency of about 1 in 20,000-25,000 [2]. A large proportion of these males is from Y to X translocations, while others either have no apparent Y;X translocation or have a cryptic sex chromosome mosaicism involving a Y cell line in at least the Sertoli cells [6].…”

mentioning

confidence: 99%

Localization of the Sex-Determining Region-Y Gene in Xx Males

Suzuki

Sasagawa²,

Yazawa³

et al. 2000

Archives of Andrology

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“…XX males are also shorter than healthy men, suggesting the role of genes on Y chromosome that control height [3]. The potential Y chromosomal growth-control gene is putatively located on the long arm of the Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

Male Factor Infertility: Clues to Diagnose 46, XX Male

Chakraborty

Bhattacharjee

Roy

et al. 2015

J Obstet Gynecol India

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“…On basis of the analysis and detection of SRY gene, 46, XX male patients can be clinically divided into SRY-positive and the SRY-negative groups (6,7). SRYpositive individuals usually have normal male genitalia, small azoospermic testes and hypergonadotropic hypogonadism (8), and most carry the SRY gene translocated to the X chromosome during paternal meiosis (7,9); however, SRY autosomal translocations have also been reported in some XX males (10)(11)(12). The diagnosis of SRY-positive patients is usually achieved in adulthood during infertility investigation (3).…”

Section: Introductionmentioning

confidence: 99%

46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

Alves

Braid

Coeli

et al. 2010

Arq Bras Endocrinol Metab

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SUMMARYThe XX male syndrome -Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene. Arq Bras Endocrinol Metab. 2010;54(8):685-9 SUMÁRIO A síndrome do homem XX é uma condição rara na qual o fenótipo da genitália externa pode variar de uma genitália ambígua até uma genitália masculina normal. Este estudo tem por objetivo relatar a avaliação hormonal, molecular e citogenética de um menino com essa síndrome. O exame da genitália externa na idade de 16 meses mostrava: pênis medindo 3,5 cm, hipospadia proximal e testículos tópicos. A ultrassonografia pélvica não visualizou estruturas mullerianas. Cariótipo foi 46,XX. A testosterona sérica não se elevou após o teste de estímulo com gonadotrofina. Biópsias gonadais mostraram túbulos seminíferos, sem evidência de células de Leydig. Estudos moleculares revelaram ausência dos genes SRY, TSPY e DYZ3, bem como ausência de deleção ou duplicação das regiões SOX9, NR5A1, WNT4 e NROB1. A criança era heterozigótica para todos os microssatélites da região 9p, incluindo o gene DMRT1. Apenas 10% dos pacientes com a síndrome do homem 46,XX são SRY-negativos. Nesses casos, a genitália geralmente é ambígua, como corroborado pelo paciente do presente relato. A masculinização incompleta sugere ganho de mutação funcional em um ou mais genes a jusante do gene SRY. Arq Bras Endocrinol Metab. 2010;54(8):685-9

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The etiology of maleness in XX men

Cited by 223 publications

References 56 publications

Localization of the Sex-Determining Region-Y Gene in Xx Males

Localization of the Sex-Determining Region-Y Gene in Xx Males

Male Factor Infertility: Clues to Diagnose 46, XX Male

46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

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