Abstract
Case report: This is the first report of a male neonate with 17α-hydroxylase deficiency with micropenis, hypospadia and normal aldosterone secretion. Diagnosis was based on elevated excretion of PD, DOC, TH-DOC, THB, allo-THB and decreased excretion of Cortisol, 11-desoxy-cortisol, THF, THE and testosterone. Serum levels of ACTH, LH, FSH, DOC were elevated whereas cortisol, testosterone and PRA were decreased. Serum levels and urinary excretion of aldosterone were normal.
Discussion: 17α-hydroxylase deficiency is a rare disorder of steroid metabolism. The clinical pattern in adults presents with hypokalaemic hypertension associated with metabolic alcalosis and pseudohermaphrodism in males. Low aldosterone levels indicate that the 17α-hydroxylase deficiency is linked to a dehydrogenase deficiency in the conversion of 18-OH-corticosterone to aldosterone. Our case presenting with unimpaired aldosterone formation may be a unique entity or due to unexpressed enzyme deficiency during the newborn period.
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Vetter, U., Homoki, J. & Teller, W. 17α-Hydroxylase-deficiency with unimpaired aldosterone formation in a male neonate. Pediatr Res 15, 1560 (1981). https://doi.org/10.1203/00006450-198112000-00151
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DOI: https://doi.org/10.1203/00006450-198112000-00151