17,20-Desmolase deficiency - clinical and biochemical heterogeneity
1981
3 XY-individuals were studied at a pubertal age. No. 1 and 2 were the original patients (Zachmann et al., Clin.Endocr. 1,369, 1972) with intersexuality, raised as boys. No. 3 (unrelated) had female external genitalia and was raised as girl. 1 and 2 had male puberty, but 3 not. Serum testosterone (T) before and after HCG (5000 IU/m2) was (ng/dl):
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