A case of 17α-hydroxylase deficiency with chromosomal karyotype 46,XY and high plasma aldosterone concentration

A 15-year-old female case of 17α-hydroxylase deficiency with 46,XY chromosomal karyotype is reported. High plasma aldosterone concentration (285 pg/ml) with low plasma renin activity less than 0.1 ng/ml/h) and the absence of organs derived from Mullerian ducts with immature testes were recognized. Bilateral orchiectomy was done after hormonal control by the administration of dexamethazone. The basic characteristics, mechanism of high plasma aldosterone concentration, steroid modification of Mullerian inhibiting substance and rationality of castration in a case of 17α-hydroxylase deficiency are discussed.