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

Authors
 박혜선 ; 송제은 ; 이수진 ; 이유미 ; 이지연 ; 한승희 ; 황세나 
Citation
 Journal of the Korean Society of Endocrinology (대한내분비학회지), Vol.30(3) : 408~413, 2015 
Journal Title
 Journal of the Korean Society of Endocrinology (대한내분비학회지) 
ISSN
 2093-596X 
Issue Date
2015
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/141340
DOI
10.3803/EnM.2015.30.3.408
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Internal Medicine
Yonsei Authors
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