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Shin, Yu, Choi, Kim, Kim, Shin, Park, and Kim: Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17α-hydroxylase/17,20-lyase Deficiency
Original Article
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2009; 24(2): 109-115.

Published online: 30 June 2009

DOI: https://doi.org/10.3803/jkes.2009.24.2.109

Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17α-hydroxylase/17,20-lyase Deficiency

Dong Hoon Shin, Sung Hoon Yu1, Young Min Choi2, Jung Gu Kim2, Sang Wan Kim1, Chan Soo Shin1, Kyong Soo Park1, Seong Yeon Kim1

Department of Internal Medicine, Hanil General Hospital, Korea.

1Department of Internal Medicine, Seoul National University College of Medicine, Korea.

2Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Korea.

Received 20 March 2009       Accepted 25 May 2009

Copyright © 2009 Korean Endocrine Society

Abstract

17α-hydroxylase/17,20-lyase deficiency is a rare phenotype of congenital adrenal hyperplasia (CAH), and this is characterized by hyporeninemic hypertension, primary amenorrhea and abnormality of the secondary sexual characteristics (pseudohermaphroditism in men). This type of CAH is usually misdiagnosed at first as mineralocorticoid induced hypertension with primary aldosteronism, but primary amenorrhea with deficient sex hormone is a clue for making the correct diagnosis. The authors experienced 6 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who ranged from 15 to 42 years of age. 4 cases were diagnosed according to the investigation of their mineralocorticoid-induced hypertension and 2 cases their primary amenorrhea and sexual infantilism. All of them had hypokalemia, hyporeninemic hypertension and an atrophied uterus and ovaries. In the genotypic male (46 XY), the testicles were atrophied in the abdominal cavity. The levels of cortisol, estrogen and dehydroepiandrosterone sulfate (DHEAS) were low, but the levels of progesterone and 11-deoxycorticosterone were high. Therefore, the diagnosis of 17α-hydroxylase/17,20-lyase deficiency should be considered in female patients who present with both sexual infantilism and mineralocorticoid hypertension. We report on these cases with a brief review of the literature.

Keywords: congenital adrenal hyperplasia, sexual infantilism, 17α-hydroxylase/17,20-lyase deficiency

Figures and Tables

Fig. 1
Computed tomography scan of the abdomen, case 1 (A) and 2 (B). Bilateral adrenal hyperplasia was noted (arrow).
jkes-24-109-g001
Fig. 2
Computed tomography scan of the abdomen (case 4). A. Bilateral intra-abdominal testes are atrophied (arrow). B. There are no uterus and adnexa in the pelvic cavity.
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Fig. 3
Multiple hormones are needed in adrenal steroidogenesis.
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Table 1
Clinical characteristics of patients with 17α-hydroxylase/17,20-lyase deficiency
jkes-24-109-i001

BP, blood pressure.

Table 2
Serum levels of baseline laboratory findings of patients with 17α-hydroxylase/17,20-lyase deficiency
jkes-24-109-i002

ACTH, adrenocorticotropic hormone; DHEAS, dehydroepiandrostenedione sulfate; FSH, follicle stimulating hormone; LH, luteinizing hormone.

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