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KMID : 0356620090240020109
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Journal of Korean Society of Endocrinology
2009 Volume.24 No. 2 p.109 ~ p.115
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Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17α-hydroxylase/17,20-lyase Deficiency
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Shin Dong-Hoon
Yoo Sung-Hoon
Choi Young-Min
Kim Jung-Gu
Kim Sang-Wan
Shin Chan-Soo
Park Kyong-Soo
Kim Seong-Yeon
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Abstract
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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.
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KEYWORD
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congenital adrenal hyperplasia, sexual infantilism, 17α-hydroxylase/17, 20-lyase deficiency
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