Untreated Congenital Adrenal Hyperplasia with 17-alpha Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor.
10.3803/EnM.2015.30.3.408
- Author:
Su Jin LEE
1
;
Je Eun SONG
;
Sena HWANG
;
Ji Yeon LEE
;
Hye Sun PARK
;
Seunghee HAN
;
Yumie RHEE
Author Information
1. Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. YUMIE@yuhs.ac
- Publication Type:Case Report
- Keywords:
Adrenocortical adenoma;
Adrenal hyperplasia, congenital;
Adrenal glands
- MeSH:
Abdominal Pain;
Adrenal Glands;
Adrenal Hyperplasia, Congenital*;
Adrenalectomy;
Adrenocortical Adenoma;
Adrenocorticotropic Hormone;
Adult;
Amenorrhea;
Blood Pressure;
Disorders of Sex Development;
Female;
Humans;
Hyperplasia;
Hypertension;
Male;
Phenotype;
Sexual Infantilism
- From:Endocrinology and Metabolism
2015;30(3):408-413
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital adrenal hyperplasia (CAH) with 17alpha-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 17alpha-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 17alpha-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 17alpha-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.
