Title
A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
London :BMJ Pub. Group ,
Subject
Human medicine
Source (journal)
BMJ case reports. - London, 2008, currens
Volume/pages
(2015) , p. 1-3
ISSN
1757-790X
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Disorders of sexual development are conditions where sexual phenotype and genotype are discordant. Genetic sex is determined at conception as the ovum is fertilised by a spermatozoon that contains either an X or Y chromosome. A complex pathway determined by genes and hormones leads to gonadal differentiation into testis or ovary and promotes the development of internal and external genitalia. We present a case of an 18-year-old woman who presented with primary amenorrhoea. She was a virgin, and apart from hirsutism and overweight, had no complaints. Her family history was insignificant. The patient was tall and had underdeveloped breasts. Her blood results showed hypergonadotropic hypogonadism. A 46, XY genotype was detected with karyotype analysis. Ultrasound and MRI demonstrated the presence of a uterus, but no overt gonads. Laparoscopy was performed, with bilateral removal of streak ovaries.
E-info
https://repository.uantwerpen.be/docman/iruaauth/c242fa/99810007.pdf
Handle