J Korean Endocr Soc.  2009 Jun;24(2):109-115. 10.3803/jkes.2009.24.2.109.

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

• Shin DH
• Yu SH
• Choi YM
• Kim JG
• Kim SW
• Shin CS
• Park KS
• Kim SY

• KMID: 1468505
• DOI: http://doi.org/10.3803/jkes.2009.24.2.109

Abstract

17alpha-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 17alpha-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 17alpha-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.

Keyword

congenital adrenal hyperplasia; sexual infantilism; 17alpha-hydroxylase/17,20-lyase deficiency

MeSH Terms

Abdominal Cavity
Adrenal Hyperplasia, Congenital
Amenorrhea
Dehydroepiandrosterone Sulfate
Estrogens
Female
Humans
Hydrocortisone
Hyperaldosteronism
Hypertension
Hypokalemia
Male
Ovary
Phenotype
Progesterone
Sexual Infantilism
Testis
Uterus
Dehydroepiandrosterone Sulfate
Estrogens
Hydrocortisone
Progesterone

Figure

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  Fig. 1 Computed tomography scan of the abdomen, case 1 (A) and 2 (B). Bilateral adrenal hyperplasia was noted (arrow).

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  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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