title: Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor.
abstract: Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Je Eun
authors.initials: JE
authors.lastname: Song
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Sena
authors.initials: S
authors.lastname: Hwang
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Hye Sun
authors.initials: HS
authors.lastname: Park
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Seunghee
authors.initials: S
authors.lastname: Han
authors.affiliation: Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. YUMIE@yuhs.ac.
authors.forename: Yumie
authors.initials: Y
authors.lastname: Rhee
keywords: Adrenal glands; Adrenal hyperplasia, congenital; Adrenocortical adenoma