Clinical, endocrinological, and enzymatic characterization of two patients with 5α-reductase deficiency: Evidence that a single enzyme is responsible for the 5α …

LK FISHER, MD KOGUT, RJ MOORE… - The Journal of …, 1978 - academic.oup.com
Two siblings with 46, XY male pseudohermaphroditism were demonstrated to have the
phenotype characteristic of 5α-reductase deficiency, namely normal testes and male …

Different aspects of 5α‐reductase deficiency in male pseudohermaphroditism and hypothyroidism

P Mauvais‐Jarvis, F Kuttenn… - Clinical …, 1981 - Wiley Online Library
The 5α‐reductase activity that mediates the transformation of testosterone to
dihydrotestosterone in various anatomical sites of human beings, has been studied in …

The syndrome of 5α-reductase deficiency

CM Fratianni, J Imperato-McGinley - The Endocrinologist, 1994 - journals.lww.com
Abstract The enzyme steroid 5 [alpha]-reductase converts testosterone to the more potent
androgen dihydrotestosterone. An inherited deficiency of the enzyme results in a deficiency …

Familial Male Pseudohermaphroditism due to 17–20- Desmolase Deficiency. I.In Vivo Endocrine Studies

MG FOREST, M LECORNU… - The Journal of Clinical …, 1980 - academic.oup.com
In two siblings with male pseudohermaphroditism (ambiguous external genitalia, XY
karyotype) and apparently normal glucocorticoid function, plasma concentrations of 10 …

Metabolic studies in a patient with testicular feminization syndrome

E Castañeda, AE Perez, MA Guillen… - American Journal of …, 1971 - Elsevier
The in vitro metabolism of radioactive labeled testosterone and androstenedione by a
minced preparation of pubic skin from a patient with the complete testicular feminization …

Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads.

E Okon, N Livni, A Rösler, S Yorkoni… - Archives of pathology …, 1980 - europepmc.org
We report here the results of the endocrine studies and the morphological findings of the
gonads in two male pseudohermaphrodite siblings with 5 alpha-reductase deficiency. Basal …

Mechanisms of androgen production in male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency

A Rösler, A Belanger, F Labrie - The Journal of Clinical …, 1992 - academic.oup.com
Abstract 17 beta-Hydroxysteroid dehydrogenase (17 beta HSD) deficiency is a rare cause of
male pseudohermaphroditism, but is a frequent disorder among a highly inbred Arab …

In Vitro Steroid Metabolic Studies in Testicular 17β-Reduction Deficiency

U Goebelsmann, TD Hall, WL Paul… - The Journal of Clinical …, 1975 - academic.oup.com
In order to document testicular 17β-reduction deficiency (17RD) and to search for additional
metabolic aberrations possibly associated with this disorder, the metabolism of 14C-labeled …

Testicular function in prepubertal male pseudohermaphroditism

S Campo, C Moteagudo, G Nicolau… - Clinical …, 1981 - Wiley Online Library
Testicular function was evaluated in forty‐one prepubertal patients with male
pseudohermaphroditism by determinating serum concentrations of progesterone, 17 …

Steroid 5α-reductase 2 deficiency

JD Wilson, JE Griffin, DW Russell - Endocrine Reviews, 1993 - academic.oup.com
I. Introduction B ETWEEN 1968 and 1973 a large body of evidence accumulated in our
laboratory and by others demonstrated that the conversion of testosterone to …