Endocrine Abstracts

Background: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The clinical spectrum in males with X-ALD ranges from isolated adrenal insufficiency (AI) and slowly progressive myelopathy to devastating cerebral demyelination. Gitelman syndrome (GS) is a rare autosomal recessive inherited tubular disease which is caused by mutation in the SLC12A3 gene. It is characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. We report the a...

Background: HAIR-AN, a syndrome of hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN), is a specific subphenotype of polycystic ovary syndrome, and it is seen in almost 5% of all women with hyperandrogenism. We report the case of a HAIR-AN which posed a diagnostic challenge in a 16-year-old girl.Case Presentation: A 16-year-old girl was referred by her pediatrician to the Endocrinology Department for exploration of primary ameno...