Late-onset Congenital Adrenal Hyperplasia with Cushing Syndrome

Abstract

Although hirsutism is classically part of the clinical presentation of polycystic ovarian syndrome (PCOS), congenital adrenal hyperplasia and Cushing's syndrome (CS), CS associated with underlying late-onset congenital adrenal hyperplasia (LCAH) in an adult has not been previously reported. We herein present the case of a 25-year-old woman who was followed for PCOS for seven years. After undergoing detailed tests described within the text, she received the diagnosis of LCAH and was found to have point mutations. Interestingly, she later had diagnosis of endogenous CS that regressed folowing excision of an adrenal adenoma found on MRI. The present patient thus exhibited the coexistence of two paradoxical endocrine pathologies.

Normotensive, Normokalemic Hyperaldosteronemia of a Grown-up Woman Diagnosed as Salt-Losing 21-Hydroxylase Deficiency in Neonatal Period

“…Development of adrenal adenoma manifested by Cushing syndrome was reported in a young woman with late onset of 21-OHD, who had been treated as polycystic ovary syndrome without supplementation of gluco-and mineralo-corticoid [13]. If serum cortisol and aldosterone levels of this patient further increase, the image study of the adrenals would be necessary.…”