Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

Dumić, Miroslav; Lin‐Su, Karen; Leibel, Natasha; Ciglar, Srećko; Vinci, G; Lasan, Ružica; Nimkarn, Saroj; Wilson, Jean D.; McElreavey, Ken; New, Maria I.

doi:10.1210/jc.2007-2155

Cited by 37 publications

(21 citation statements)

References 40 publications

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“…The phenotypic mode of inheritance was strongly suggestive of X-linkage. 8 In this report, a fertile woman had a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X). She gave birth to a 46,XY daughter with complete gonadal dysgenesis.…”

Section: Complete and Partial 46xy Gonadal Dysgenesismentioning

confidence: 69%

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46,XY disorders of sex development (DSD)

Mendonca

Domenice

Arnhold

et al. 2009

Clinical Endocrinology

137

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SummaryThe term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients.

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Section: Complete and Partial 46xy Gonadal Dysgenesismentioning

confidence: 69%

“…The range of phenotypes observed in this unique family suggests a new mechanism which predisposes to chromosomal mosaicism. 8 …”

Section: Complete and Partial 46xy Gonadal Dysgenesismentioning

confidence: 99%

46,XY disorders of sex development (DSD)

Mendonca

Domenice

Arnhold

et al. 2009

Clinical Endocrinology

137

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“…Normally, in these cases the ovaries do not develop properly and the reproductive capacity is compromised. An exception is described by Dumic et al [2008] who reported a fertile XY woman with normal ovaries, but an in-depth analysis showed the presence of different cell lines in the ovarian tissue: 93% 46,XY, 6% 45,X, and less than 1% 46,XX. However, despite the identification of all these causative genetic factors of XY DSD, at least a third of the cases remain unexplained.…”

Section: Resultsmentioning

confidence: 99%

XY (<b><i>SRY</i></b>-positive) Ovarian Disorder of Sex Development in Cattle

Lorenzi¹,

Arrighi

Rossi

et al. 2018

Sex Dev

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In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped. Moreover, genetic analysis highlighted the presence of the SRY gene with a normal coding region in both blood- and tissue-derived DNA. A chimeric condition was excluded in blood by sexing more than 350 cells and by allele profile investigation of 18 microsatellite markers. Array CGH analysis showed the presence of a not yet described 99-kb duplication (BTA18), but its relationship with the phenotype remains to be demonstrated. Gonadal histology demonstrated paired ovaries: the left one containing a large corpus luteum and the right one showing an underdeveloped aspect and very few early follicles. To our knowledge, we describe the first case of XY (SRY+) DSD in cattle with a normal SRY gene coding sequence.

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“…Similarly, ovarian tissue has been described in 2 46,XY individuals carrying a heterozygous missense mutation in SOX9 [Cameron et al, 1996]. A familial case of 46,XY DSD has also been described where a fertile 46,XY woman gave birth to a 46,XY girl who was later diagnosed with complete gonadal dysgenesis [Dumic et al, 2008]. Although further research is necessary, these data are consistent with a model wherein the human gonad attempts to form an ovary in the absence of, or compromised, testis-determining signal.…”

Section: Discussionmentioning

confidence: 91%

Gene Mutations Associated with Anomalies of Human Gonad Formation

Bashamboo

McElreavey²

2012

Sex Dev

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Here, we discuss recent progress on our understanding of the genetic anomalies that impact directly on the specification and development of the somatic cell compartment of the human gonad. Several new genes and pathways have been identified in the last 5 years associated with human disorders of sex development (DSD). New methods and analytical approaches, including comparative genomic hybridization and next-generation sequencing technologies, are beginning to provide deeper insights into the complexities and alterations of the genetic architecture that are associated with human DSD. The challenges as well as the research opportunities for the future are highlighted as efforts are made to bridge the gap between an increasing quantity of genetic information and the underlying biology.

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Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

Abstract: The range of phenotypes observed in this unique family suggests that there may be transmission of a mutation in a novel sex-determining gene or in a gene that predisposes to chromosomal mosaicism.

Cited by 37 publications

References 40 publications

46,XY disorders of sex development (DSD)

46,XY disorders of sex development (DSD)

XY (<b><i>SRY</i></b>-positive) Ovarian Disorder of Sex Development in Cattle

Gene Mutations Associated with Anomalies of Human Gonad Formation

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