Two SRY -negative XX male brothers without genital ambiguity

Zenteno, Juan Carlos; López, Marisol; Vera, Clementina; Méndez, Juan Pablo; Kofman‐Alfaro, Susana

doi:10.1007/s004390050561

Cited by 57 publications

(41 citation statements)

References 43 publications

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“…In our opinion, the illegitimate X/Y chromosomal inter-change during paternal meiosis would result in the differentiation of primary gonads into testes in 46,XX SRY-positive male. 46, XX SRY-negative individuals with complete masculinization are rare [8,13,[17][18][19]. Here, we reported one case of 46,XX SRY-negative male with full masculinization but infertility.…”

Section: Results Of Pcr and Fishmentioning

confidence: 77%

“…The majority of these patients have a variable degree of ambiguous external genitalia although a complete male phenotype could also be observed [8,15]. That would be considered as evidence supporting the theory that the SRY gene does not function alone in the determination of the male phenotype, but disruption of an unidentified autosomal or X-linked sex-determining gene may interact in the sex-determining cascade [13,18].…”

Section: Results Of Pcr and Fishmentioning

confidence: 83%

“…In contrast, there are about 10 % of XX males whose testicular differentiation occurs in absence of detectable Y sequences [8,13,[17][18][19][20][21]. The majority of these patients have a variable degree of ambiguous external genitalia although a complete male phenotype could also be observed [8,15].…”

Section: Results Of Pcr and Fishmentioning

confidence: 99%

“…Most patients (85 %) have a normal male phenotype at birth and are usually diagnosed after puberty during consultation because of hypogonadism, gynecomastia, and/or infertility [8]. Approximately 15 % of XX males are observed to have hypospadias, cryptorchidism, or severe genital ambiguity [9].…”

Section: Results Of Pcr and Fishmentioning

confidence: 99%

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Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

Gao

Chen

Huang

et al. 2013

J Assist Reprod Genet

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Purpose To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene. Methods Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed. Results Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present. Conclusions The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

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Section: Results Of Pcr and Fishmentioning

confidence: 77%

Section: Results Of Pcr and Fishmentioning

confidence: 83%

Section: Results Of Pcr and Fishmentioning

confidence: 99%

Section: Results Of Pcr and Fishmentioning

confidence: 99%

See 2 more Smart Citations

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

Gao

Chen

Huang

et al. 2013

J Assist Reprod Genet

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“…The group of SRYnegative (OMIM ID 278850) includes patients with Ovotesticular-DSD, which is characterized by the presence of both testicular and ovarian tissue in the gonads of the same individual (13,14), and Testicular-DSD characterized by a full development of both gonads as testes without any evidence of ovarian tissue (2). The occurrence of both Ovotesticular and Testicular-DSD in families, especially in identical twins, indicates them as different manifestations of the same disorder of gonadal development (15)(16)(17). In the absence of SRY gene, the up-regulation or super-expression of some members of SOX family (Sry-related HMG-box) have been proposed as involved in XX male etiology (18)(19)(20).…”

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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Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA

et al. 2000

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True hermaphroditism is an uncommon form of intersexuality in which testicular and ovarian tissue develop in the same individual. Most true hermaphrodites are 46,XX and lack SRY, the testis-determining gene. We describe results of molecular studies performed in a 46,XX true hermaphrodite SRY-negative in DNA from blood leukocytes but SRY-positive in DNA obtained from the testicular portion of the ovotestis. Surprisingly, the SRY identified in gonadal DNA carries a partial deletion at the 5' end of the gene. Our patient is the first case of a naturally occurring deletion within the SRY ORF (with a normal HMG box) and provides a new explanation for the abnormal gonadal development observed in 46,XX true hermaphrodites.

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Two SRY -negative XX male brothers without genital ambiguity

Cited by 57 publications

References 43 publications

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

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

Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA

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