Coexistence of 21 Hydroxylase Deficiency and Autoimmune Adrenalitis: A Case Report

Abstract 21-Hydroxylase deficiency (21 OHD) is the most common cause of congenital adrenal hyperplasia (CAH). Despite its relative frequency, many aspects of this disease are understudied. The aim of our case report was to highlight the association between nonclassic CAH (NCCAH) and autoimmunity, and to encourage future research to explore the possible cause-and-effect relationship between CAH and tumorigenesis. Here, we report the case of a 41-year-old woman with a history of nonclassic 21 OHD, who demonstrated typical signs of acute adrenal insufficiency. As it is well known, this is an unusual presentation of NCCAH and therefore a panel of laboratory and radiological exams were conducted in order to determine the associated etiology of the adrenal insufficiency, which revealed to be autoimmune adrenalitis. Another striking particularity of our case is the coexistence of NCCAH and cutaneous T lymphoma in our patient, which to our knowledge has never been reported in literature. This case illustrates the need to scrutiny for the etiology of adrenocortical crisis in the setting of NCCAH. It also emphasizes the possible associations between NCCAH and autoimmunity in one hand and neoplasms on the other hand.