Article
Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.
The Journal of clinical endocrinology and metabolism - 1 Feb 2004
Codner Ethel, Okuma Cecilia, Iñiguez Germán, Boric M Angélica, Avila Alejandra, Johnson M Cecilia, Cassorla Fernando G
Abstract excerpt
To determine whether some patients with idiopathic hypospadias have HSD3B2 mutations, we genotyped this locus in 90 patients with hypospadias (age, 6.0 +/- 0.4 yr) and 101 healthy fertile male controls. We measured basal plasma renin activity and performed an ACTH test for determination of 17-OH-pregnenolone, 17-OH-progesterone, cortisol, dehydroepiandrosterone sulfate, and androstenedione and an human chorionic...
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