title: A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis.
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.
authors: Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium.
authors: Dominique
authors: D
authors: Mannaerts
authors: Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium.
authors: Joke
authors: J
authors: Muys
authors: Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium.
authors: Bettina
authors: B
authors: Blaumeiser
authors: Department of Genetics, Antwerp University Hospital UZA, Edegem, Belgium.
authors: Yves
authors: Y
authors: Jacquemyn
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000175:diagnosis / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging