The coexistence of male pseudohermaphrodites with 17-ketosteroid reductase deficiency and 5 alpha-reductase deficiency within a Turkish kindred.

Two distinct enzyme defects affecting androgen production and resulting in male pseudohermaphroditism were found in a Turkish kindred from a small isolated village in the Taurus mountains of southern Turkey. Pedigree analysis revealed the inter-relationships of 9 male pseudohermaphrodites. Six affected subjects had adequate steroid hormone analysis. Two adult male pseudohermaphrodites had 17-ketosteroid reductase deficiency with elevated concentrations of plasma androstenedione relative to testosterone, and elevated concentrations of urinary androsterone (A) and etiocholanolone (E) relative to tetrahydrocortisol (THF), 5 alpha-tetrahydrocortisol (5 alpha-THF) and tetrahydrocortisone (THE). Four affected males (three adults, one child) had 5 alpha-reductase deficiency (elevated ratios of plasma testosterone/dihydrotestosterone and urinary 5 beta/5 alpha C19 and C21 steroid metabolites). The homozygous state for both enzyme deficiencies was not demonstrable in the same affected subject, suggesting that the enzyme deficiencies are segregating separately within this kindred. Whether the mutant genes are segregating on allelic chromosomes or other autosomes cannot be determined from this study.