Endocrine Abstracts

Recent advancements in genetic testing have revealed various X-chromosome abnormalities as causative factors for both familial and sporadic cases of Primary Ovarian Insufficiency (POI). In this case report, we present an intriguing instance of POI associated with a deletion in the critical region-1 on the long arm of the X-chromosome A 12.5-year-old girl of South Asian descent presented with 8 month history of irregular menstrual periods with bleeding lasting for 10 days and a...

Introduction: Hypoparathyroidism may be an isolated or a component of a complex syndrome. Although genetic disorders are not the most common cause, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone.Case presentation: We are reporting a 37-year-old gentleman, who is the first adult case diagnosed at our University...