Endocrine Abstracts

A 26-year-old female of Asian origin presented with primary amenorrhoea. She was born at full term. Her milestones were normal. She had history of gonadectomy at age 14. She had not started her periods but had no symptoms to suggest hyperandrogenism. She had history of consanguinity as her parents are cousins. She had five sisters of which only two had started their periods. On examination, she was normotensive. She had complete absence of breast with absent axillary and pubic hair. She had female external genitalia with a blind vaginal pouch. Her baseline bloods were suggestive of hypergonadotropic hypogonadism. She had a normal short synacthen test, and a 24-hour urine steroid profile to rule out congenital adrenal hyperplasia. An MRI of the pelvis which confirmed the blind vagina about 3 cm in length. There was no uterine tissue or ovarian or any other inguinal mases. Her Karyotype analysis confirmed the presence of an XY genotype consistent with a male sex chromosome. Further genome sequencing confirmed the presence of an inactivating homozygous LHCGR variant consistent with the diagnosis of Leydig cell hypoplasia. In humans luteinizing hormone/ chorionic gonadotropin receptor (LHCGR) plays a pivotal role in sexual differentiation and maturation in both males and females. Inactivating mutations of these receptor may present with various phenotypic spectrum depending on the sex and the degree of receptor defect. Amenorrhea is a common presentation to an endocrinologist. A structured approach can help reveal the underlying diagnosis. Patients with disorders of sexual development should be managed as a multidisciplinary team with ongoing psychological support.