Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5α-reductase deficiency
O Hiort, H Willenbring, N Albers, W Hecker… - European journal of …, 1996 - Springer
Reduced conversion of testosterone (T) to dihydrotestosterone (DHT) results in defective
virilization in karyotypic males. Different mutations in the 5α-reductase type 2 gene cause …
virilization in karyotypic males. Different mutations in the 5α-reductase type 2 gene cause …
Steroid 5α-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias
A Tria, O Hiort, GHG Sinnecker - Hormone research, 2004 - karger.com
Background/Aim: Defects in the steroid 5α-reductase type 2 (SRD5A2) activity cause
decreased formation of dihydrotestosterone (DHT) from testosterone (T), resulting in …
decreased formation of dihydrotestosterone (DHT) from testosterone (T), resulting in …
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase deficiency
The 3β-hydroxysteroid dehydrogenase/Δ 5-Δ 4 isomerase (3β-HSD) isoenzymes are
responsible for the oxidation and isomerization of Δ 5-3β-hydroxysteroid precursors into Δ 4 …
responsible for the oxidation and isomerization of Δ 5-3β-hydroxysteroid precursors into Δ 4 …
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
M Bahceci, AR Ersay, A Tuzcu, O Hiort… - Urology, 2005 - Elsevier
OBJECTIVES: To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings
with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency …
with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency …
Human type 3 5α-reductase is expressed in peripheral tissues at higher levels than types 1 and 2 and its activity is potently inhibited by finasteride and dutasteride
K Yamana, F Labrie, V Luu-The - Hormone molecular biology and …, 2010 - degruyter.com
Abstract 5α-Reductases are crucial enzymes involved in the biosynthesis of
dihydrotestosterone, the most potent natural androgen. To date, three types of 5α …
dihydrotestosterone, the most potent natural androgen. To date, three types of 5α …
Male pseudohermaphroditism due to nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty
BB Mendonca, W Bloise, IJP Arnhold… - Journal of steroid …, 1987 - Elsevier
Adrenal and gonadal functions were evaluated on two adult cousins with male pseudo-
hermaphroditism due to congenital 3β-hydroxysteroid dehydrogenase deficiency (3β-HSD) …
hermaphroditism due to congenital 3β-hydroxysteroid dehydrogenase deficiency (3β-HSD) …
Pubertal changes in testicular 3β-hydroxysteroid dehydrogenase activity in a male with classical 3β-hydroxysteroid dehydrogenase deficiency showing spontaneous …
M Yoshimoto, T Kawaguchi, R Mori… - Hormone Research in …, 1997 - karger.com
Males with classical 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency manifest
appropriate secondary sexual maturation with an elevation in serum testosterone levels at …
appropriate secondary sexual maturation with an elevation in serum testosterone levels at …
Clinical, endocrine, and molecular findings in 17β-hydroxysteroid dehydrogenase type 3 deficiency
MF Faienza, L Giordani, M Delvecchio… - Journal of …, 2008 - Springer
Abstract The 17β-hydroxysteroid dehydrogenases (17βHSD) gene family comprises
different enzymes involved in the biosynthesis of active steroid hormones. The 17βHSD type …
different enzymes involved in the biosynthesis of active steroid hormones. The 17βHSD type …
Steroid 5α-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultrastructure of the testes, and evidence for inherited enzyme …
J Imperato-McGinley, RE Peterson… - The Journal of …, 1980 - academic.oup.com
We report a 65-yr-old male pseudohermaphrodite with steroid 5α-reductase deficiency in
whom there was no medical intervention before, during, or after puberty, enabling us to …
whom there was no medical intervention before, during, or after puberty, enabling us to …
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α‐Reductase Type 2 Deficiency
NN Veiga-Junior, PAR Medaets… - International Journal …, 2012 - Wiley Online Library
The aim of this study was to search for clinical and laboratorial data in 46, XY patients with
ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to …
ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to …