Combined 17a- and 18-Hydroxylase Deficiency Associated with Complete Male Pseudohermaphroditism and Hypoaldosteronism*

Publisher Website
Google Scholar
Abstract
A 45-year-old phenotypic female with XY genotype presented with male pseudohermaphroditism, gynecomastia, hypokalemic alkalosis, and hypertension. Being raised as a girl, the patient failed to menstruate and developed no sexual hair. At laparatomy no Mullerian structures were found but testes were removed which showed histologically atrophy of seminiferous tubules and abundant Leydig cells. Deoxycorticosterone (2.0 mg/24 h) and corticosterone (117 mg/24 h) secretion rates were extremely elevated, whereas those of aldosterone (17 µg/24 h), deoxycortisol (22 µg/24 h), and cortisol (23 µg/24 h) were almost unmeasurable. The excretion rates of 18-OH-deoxycorticosterone (complete femalephenotype had 17a-hydroxylase deficiency. The enzymatic defect was linked with an associated 18-hydroxylasedeficiency. (J Clin Endocrinol Metab46: 236, 1978)