Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences

Boucekkine, C.; Toublanc, Jean-Edmond; Abbas, Nacer; Chaabouni, Slaheddine; Ouahid, S.; Semrouni, M.; Jaubert, F; Toublanc, M.; Vilain, Éric; Fellous, Marc

doi:10.1111/j.1365-2265.1994.tb02506.x

Cited by 123 publications

(85 citation statements)

References 27 publications

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“…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%

“…Molecular genetics analyses have demonstrated that approximately 90 % of these patients carry a variable amount of Y material due to a Y-to-X interchange caused by an illegitimate recombination during paternal meiosis [13][14][15]. There was a report of an XX male caused by a translocation of an SRY gene fragment from the Y chromosome to an autosome [16].…”

Section: Results Of Pcr and Fishmentioning

confidence: 99%

“…46,XX male syndrome is rare and its incidence is about 1:20000 in newborn males [2]. As far as the sexual phenotype is concerned, three clinical categories of sex-reversed 46,XX individuals have been identified: (1) Classic XX males, infertility with normal male internal and external genitalia; (2) XX males with ambiguous genitalia, usually detected at birth by external genital ambiguities such as hypospadias, micropenis, or hyperclitoridy; (3) XX true hermaphrodites, who carry internal or external genital ambiguities detected at birth [3][4][5].…”

Section: Introductionmentioning

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: 83%

Section: Results Of Pcr and Fishmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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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“…In contrast with patients with Klinefelter syndrome, XX males are shorter than normal XY males. This is probably due to the absence of Yq-specific growth gene(s) [9] and to the lack of an appropriate testosterone-dependent pubertal growth spurt [1]. In case 1, however, short stature was observed before puberty.…”

Section: Discussionmentioning

confidence: 76%

“…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]. However, XX males present with a spectrum of clinical appearances ranging from phenotypic male individuals to true hermaphrodites [1]. In addition, a population of XX male individuals exists with full or incomplete male phenotype yet no demonstrable SRY gene.…”

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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Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

Torres¹,

López²,

Méndez³

et al. 1996

Am. J. Med. Genet.

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True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Müllerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XY is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio‐scrotal differentiation. Molecular studied in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y‐derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition. Both Mexican and non‐South African 46,XX true hermaphrodites may be SRY positive. © 1996 Wiley‐Liss, Inc.

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Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences

Abstract: Although the presence of Y-specific DNA generally results in a more masculinized phenotype, exceptions do occur. In the Y-DNA-negative group, complete or incomplete masculinization in the absence of SRY suggests a mutation of one or more downstream non-Y, testis-determining genes.

Cited by 123 publications

References 27 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

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

Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

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