A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis. (9th February 2015)

• Record Type: Journal Article
• Authors: Mannaerts, Dominique; Muys, Joke; Blaumeiser, Bettina; Jacquemyn, Yves
• Is Part Of: BMJ case reports. Volume 2015
• Publication Date: 2015-02-09
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2014-206609
• Languages: English
• ISSNs: 1757-790X

Abstract

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.