Abstract
Female pseudohermaphroditism with skeletal abnormalities (cranial and antebrachial) was observed in 3 siblings. Marked hirsutism was observed during pregnancies in the mother. Ambiguous genitalia were present at birth but further virilization did not occur. Saltwasting, hypokalemia or hypertension was not present during long-term observation. Adrenal function studies were performed in 2 of the patients. Basal values of urinary cortisol-metabolites and 17-ketosteroids were normal but the excretion of corticosterone-metabolites and pregnanetriol was increased (ratio cortisol-/corticosterone-metabolites 1:1). After ACTH stimulation additional excretion of pregnanetriol and corticosterone-metabolites was found. Also urinary cortisol-metabolites were increased as were 17-ketosteroids, allthough only moderate. Basal ACTH and 17-OH progesterone values were only slightly increased. These observations suggest the presence of a combined partial 17-21 hydroxylase deficiency with skeletal defects. This clinical entity has not previously been described.
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