Context: Disorders of steroidogenesis have been instrumental in delineating human
steroidogenic pathways. Each genetic disorder seemed to correspond to a different …

Context: Isolated 17, 20 lyase deficiency is commonly defined by apparently normal 17α-
hydroxylase activity but severely reduced 17, 20 lyase activity of the bifunctional enzyme …

Recent reports suggest that low testosterone: androstenedione (T: A) ratio following hCG
stimulation may be a useful method of diagnosing 17β‐hydroxysteroid dehydrogenase‐3 …

Objective Mutations in chromosome X open reading frame 6 (CXorf6), a recently described
candidate gene involved in the development of male genitalia, have been found in patients …

We evaluated 15 boys less than 4 years old with advanced degrees of hypospadias for the
presence of an endocrinopathy by a variety of special tests. There were 6 different endocrine …

Congenital adrenal hyperplasia (CAH) consists of a group of disorders of adrenal
steroidogenesis. Each disorder results from an inherited deficiency of one of the several …

Hereditary defects that impede androgen action cause resistance to the hormone both
during embryogenesis and in later life and hence usually cause developmental defects of …

Purpose: We determined the incidence of defects in 3 enzymes, namely 3 beta-
hydroxysteroid dehydrogenase, 17 alpha-hydroxylase and 17, 20-lyase, on the testosterone …

Thirteen children with medulloblastoma, were studied after 2 to 62 months off radiotherapy
and chemotherapy with methotrexate and BCNU. Ages at time of study ranged from 2.3 to …

Three patients with male pseudohermaphroditism due to 17, 20-desmolase deficiency were
studied at a pubertal age. Patients 1 and 2 (first cousins, raised as males) had intersexual …