Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development

Dumić, Miroslav and Lin-Su, Karen and Leibel, Natasha I. and Ciglar, Srećko and Vinci, Giovanna and Lasan, Ružica and Nimkarn, Saroj and Wilson, Jean D. and McElreavey, Ken and New, Maria I. (2008) Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. Journal of Clinical Endocrinology and Metabolism, 93 (1). pp. 182-189. ISSN 0021-972X

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English abstract

Context: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have 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). ----- Patients: A 46,XY mother who developed as a normal woman, underwent spontaneous puberty, reached menarche, menstruated regularly, experienced two unassisted pregnancies, and gave birth to a 46,XY daughter with complete gonadal dysgenesis. ----- Results: Evaluation of the Y chromosome in the daughter and both parents revealed that the daughter inherited her Y chromosome from her father. Molecular analysis of the genes SOX9, SF1, DMRT1, DMRT3, TSPYL, BPESC1, DHH, WNT4, SRY and DAX1 revealed normal coding sequences in both the mother and daughter. An extensive family pedigree across four generations revealed multiple other family members with ambiguous genitalia and infertility in both phenotypic males and females and the mode of inheritance of the phenotype was strongly suggestive of X-linkage. ----- Conclusions: 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.

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