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Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17, 20-lyase Deficiency Presenting as Massive Adrenocortical Tumor

 Su Jin Lee  ;  Je Eun Song  ;  Sena Hwang  ;  Ji Yeon Lee  ;  Hye Sun Park  ;  Seunghee Han  ;  Yumie Rhee 
 Endocrinology and Metabolism (대한내분비학회지), Vol.30(3) : 408-413, 2015 
Journal Title
 Endocrinology and Metabolism  (대한내분비학회지) 
Issue Date
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.
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
Yonsei Authors
박혜선(Park, Hye Sun) ; 송제은(Song, Je Eun) ; 이수진(Lee, Su Jin) ; 이유미(Rhee, Yumie) ; 이지연(Lee, Ji Yeon) ; 한승희(Han, Seung Hee) ; 황세나(Hwang, Se Na)
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