17α-Hydroxylase deficiency with persistence of müllerian ducts in a genotypic male and paradoxical aldosterone secretion

Abstract

We report a case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency in a Chinese genotypic male patient. Despite the male genotype, normal female external genitalia were present and with the introduction of cyclical oestrogen therapy withdrawal bleeding occurred, confirming the presence of functional endometrial tissue. We believe this to be the first report of persistent Mullerian duct structures in a genotypic male with 17 alpha-hydroxylase deficiency. It could be explained by either impaired secretion or impaired action of anti-Mullerian hormone. Further, contrary to the usual finding of suppressed aldosterone secretion, this patient had measurable levels of plasma aldosterone.

17‐Alpha hydroxylase deficiency: An unusual cause of secondary amenorrhoea

“…The aldosterone levels were not suppressed as is typical in 17‐alpha hydroxylase deficiency. This has been reported in several case reports 3,5,9 . The elevated or normal aldosterone levels is believed to be a result of endogenous secretion of aldosterone along with 18 hydroxycorticosterone from the zona fasciculata under the influence of elevated ACTH in these patients.…”

“…High ACTH levels contribute to increased production and accumulation of 17 deoxycorticosteroids, especially deoxycorticosterone 2 . Patients present with hypertension, hypokalaemia, and normal or suppressed aldosterone, with primary amenorrhoea in females and pseudohermaphroditism in males 3 …”