Pseudohermaphroditism due to XY gonadal absence syndrome.

Alfaro, S K; Saavedra, Deli; Ochoa, S; Scáglia, Hugo E.; Pérez‐Palacios, Gregorio

doi:10.1136/jmg.13.3.242

Cited by 17 publications

(6 citation statements)

References 27 publications

(20 reference statements)

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“…Factors that most influence this variability of sex differentiation are, at least: (1) the presence of certain loci, fundamentally the SRY gene, in the developing gonad; (2) the proportion and distribution of 45,X cell line in various tissues, specially in gonads; (3) the moment at which testes degenerate during intrauterine development (Alfaro et al 1976).…”

Section: Introductionmentioning

confidence: 99%

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

et al. 2002

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We report a molecular and cytogenetic investigation of a psu dic(Yp) chromosome identified in blood and ovarian tissue from a female with mosaic karyotype 45,X/46,X,+ psu dic(Yp). FISH analysis showed that the psu dic(Yp) has two copies of the short arm, two centromeres and two copies of the proximal long arm. PCR analysis also confirmed the presence of the SRY gene and the Y centromere, and also confirmed the deletion of the Y-heterochromatic region. Because of the possibility of a mutation, a fragment of 609 bp of the SRY gene was sequenced from independent PCR products. The analysis of the sequence indicated the presence of two different copies of the gene: one presented a point mutation, R59G, within the HMG-box; the other had a sequence identical to that already published. Both sequences were found at a proportion of 1:1. The absence of a 46,XY cell line suggests that the rearrangement took place during gametogenesis or during the first division after fertilization. Also, the existence of different sequences of the SRYgene in the same Y chromosome suggests that the formation of the dicentric took place prior to the mutation of the SRY gene. To our knowledge, this is the first time that a mutation has been described in codon 59 within the HMG- SRY box, and also the first case of a psu dic(Yp) chromosome that displays two different copies of the SRY gene.

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Section: Introductionmentioning

confidence: 99%

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

et al. 2002

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“…Various hypotheses have arisen to explain the differences in the degree of abnormal testicular determination and consequent phenotypic variability in these patients, including (1) the proportion and distribution of 45,X cells in various tissues, particularly in the gonads, (2) the timing of testicular degeneration during intrauterine development [11], and (3) the influence of other factor(s) in the developing gonad. In addition, mutations in Y chromosome genes necessary for chromosomal integrity were hypothesized to lead to the eventual loss of the Y chromosome and generation of a 45,X cell line [12].…”

Section: Introductionmentioning

confidence: 99%

The Role of <i>SRY</i> Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Nishi¹,

Costa²,

Oliveira³

et al. 2010

Horm Res Paediatr

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Background: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. Aims: It was the aim of this study to screen for allelic variation in SRY in a large cohort of patients with disorders of sex development due to chromosomal abnormalities with 45,X/46,X,der(Y) karyotype. Patients: Twenty-seven patients, 14 with TS and 13 with mixed gonadal dysgenesis (MGD), harboring 45,X/46,X,der(Y) karyotypes were selected. Methods: Genomic DNA was extracted from peripheral blood leukocytes of all patients and from gonadal tissue in 4 cases. The SRY coding region was PCR amplified and sequenced. Results: We identified only 1 polymorphism (c.561C→T) in a 45,X/46,XY MGD patient, which was detected in blood and in gonadal tissue. Conclusion: Our results indicate that mutations in SRY are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely.

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“…Lack of gonadal tissue in 46,XY subjects originates a spectrum of distinct clinical entities characterized by varying development of external genitalia (ranging from completely female to male with various degrees of ambiguity or micropenis), depending on the point in time when testicular involution occurs [Alfaro et al, 1976;Edman et al, 1977]. The clinical features in the group of subjects described here represent the extremes of the spectrum of the disease: Two patients had female external genitalia, while the remaining two exhibited completely masculinized external genitalia.…”

Section: Resultsmentioning

confidence: 99%

“…As previously proposed [Alfaro et al, 1976], it is believed that the differences in phenotypic expression of these entities depend on the stage at which testes degenerated during intrauterine development. Various degrees of wolf®an and mu È llerian derivatives development are also present.…”

Section: Introductionmentioning

confidence: 93%

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue

et al. 2001

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In several syndromes genetic males lack gonadal tissue. A range of phenotypes are seen, which varies from complete female external genitalia to anorchic subjects with sexual infantilism. Differences in phenotypic expression depend on the stage at which testes degenerated during intrauterine development. Although most cases of these syndromes are sporadic, several instances of familial recurrence suggest a genetic origin. To help elucidate the source, we performed molecular analysis of the complete SRY gene open reading frame in two subjects with true agonadism and in two with anorchia. Our results add to previous findings indicating that molecular defects in SRY are not readily identified as a cause of these syndromes.

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Pseudohermaphroditism due to XY gonadal absence syndrome.

Cited by 17 publications

References 27 publications

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

The Role of <i>SRY</i> Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue

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