Document Detail

Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development.
MedLine Citation:
PMID:  18000096     Owner:  NLM     Status:  MEDLINE    
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 male 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.
Miroslav Dumic; Karen Lin-Su; Natasha I Leibel; Srecko Ciglar; Giovanna Vinci; Ruzica Lasan; Saroj Nimkarn; Jean D Wilson; Ken McElreavey; Maria I New
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-11-13
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  93     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-07     Completed Date:  2008-03-04     Revised Date:  2010-09-15    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  182-9     Citation Subset:  AIM; IM    
Department of Pediatric Endocrinology and Diabetes, University Hospital Rebro, Zagreb, Croatia 41000.
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MeSH Terms
DNA / chemistry,  genetics
Fertility / genetics*,  physiology
Gonadal Dysgenesis, 46,XY / genetics*
Middle Aged
Polymerase Chain Reaction
Sequence Analysis, DNA
Reg. No./Substance:
Erratum In:
J Clin Endocrinol Metab. 2008 Mar;93(3):1083

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