Pregled bibliografske jedinice broj: 336354
Report of Fertility in a Woman with a Predominantly 46, XY Karyotype in a Family with Multiple Disorders of Sexual Development
Report of Fertility in a Woman with a Predominantly 46, XY Karyotype in a Family with Multiple Disorders of Sexual Development // The Journal of clinical endocrinology and metabolism, 93 (2008), 1; 182-189 doi:10.1210/jc.2007-2155 (međunarodna recenzija, članak, znanstveni)
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Naslov
Report of Fertility in a Woman with a Predominantly 46, XY Karyotype in a Family with Multiple Disorders of Sexual Development
Autori
Dumić, Miroslav ; Lin-Su, Karen ; Leibel, Natasha I. ; Ciglar, Srećko ; Vinci, Giovanna ; Lasan, Ružica ; Nimkarn, Saroj ; Wilson, Jean D. ; McElreavey, Ken ; New, Maria I.
Izvornik
The Journal of clinical endocrinology and metabolism (0021-972X) 93
(2008), 1;
182-189
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
fertile 46; XY female; sexual differentiation; intersex; complete gonadal dysgenesis; genetics
Sažetak
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). 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. 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. 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.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
108-0000000-0359 - Nasljedne endokrine bolesti u djece (Dumić, Miroslav, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE