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

Author:

Dumic Miroslav1,Lin-Su Karen2,Leibel Natasha I.3,Ciglar Srecko4,Vinci Giovanna5,Lasan Ruzica1,Nimkarn Saroj2,Wilson Jean D.6,McElreavey Ken5,New Maria I.2

Affiliation:

1. Department of Pediatric Endocrinology and Diabetes (M.D., R.L.), University Hospital Rebro, Zagreb, Croatia 41000

2. Department of Pediatric Endocrinology/Division of Adrenal Steroid Disorders (K.L.-S., S.N., M.I.N.), Mount Sinai School of Medicine, New York, New York 10029

3. Department of Pediatric Endocrinology (N.I.L.), Columbia University, New York, New York 10032

4. Department of Gynecology and Obstetrics (S.C.), Clinical Hospital Merkur, Zagreb, Croatia 10000

5. Reproduction, Fertility, and Populations (G.V., K.M.), Institut Pasteur, 75724 Paris, France

6. Department of Internal Medicine/Endocrinology (J.D.W.), University of Texas Southwestern Medical School, Dallas, Texas 75390

Abstract

AbstractContext: 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.

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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