Journal ArticleDOI
Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3
Wayne M. Geissler,Daphne L. Davis,Ling Wu,Karen D. Bradshaw,S. Patel,Berenice B. Mendonca,Keith O. Elliston,Jean D. Wilson,David W. Russell,Stefan Andersson +9 more
TLDR
Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites that severely compromised the activity of the 17 β–HSD type 3 isozyme.Abstract:
Defects in the conversion of androstenedione to testosterone in the fetal testes by the enzyme 17β–hydroxysteroid dehydrogenase (17β–HSD) give rise to genetic males with female external genitalia. We have used expression cloning to isolate cDNAs encoding a microsomal 17β–HSD type 3 isozyme that shares 23% sequence identity with other 1 7β–HSD enzymes, uses NADPH as a cofactor, and is expressed predominantly in the testes. The 17βHSD3 gene on chromosome 9q22 contains 11 exons. Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites. The substitution mutations severely compromised the activity of the 17β–HSD type 3 isozyme.read more
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Journal ArticleDOI
Human gene mutations causing infertility
TL;DR: Most gene mutations identified to date affect gonadal function, but it is also apparent that a large number of important genes in normal fertility have yet to be realised.
Molecular Cloning and Characterization of Mouse Estradiol 17β-Dehydrogenase(A-Specific), a Member of the Aldoketoreductase Family.
Deyashiki Yoshihiro,Ohshima Kiyoshi,Nakanishi Masayuki,Sato Kumiko,Matsuura Kazuya,Hara Akira +5 more
TL;DR: A mouse cDNA clone encoding monomeric 17β-hydroxysteroid dehydrogenase (17β-HSD) with A-stereospecificity in hydrogen transfer was reported in this article, which differs from the B-specific dimeric enzyme of human placenta in its ability to catalyze the oxidoreduction of trans-dihydrodiols of aromatic hydrocarbons and carbonyl compounds.
Journal ArticleDOI
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.
Berenice B. Mendonca,Marlene Inácio,Ivo J.P. Arnhold,Elaine Maria Frade Costa,Walter Bloise,Regina Matsunaga Martin,Francisco Tibor Dénes,Frederico A. Queiroz Silva,Stefan Andersson,Annika Lindqvist,Jean D. Wilson +10 more
TL;DR: While androgen action plays a role in the process, additional undefined psychological, social, and/or biologic factors must be determinants of gender identity/role behavior.
Journal ArticleDOI
Androgens, androgen receptors, and male gender role behavior.
TL;DR: The findings indicate that androgens are important determinants of gender role behavior (and probably of gender identity) and that this action is mediated by the androgen receptor and not the result of conversion of androgen to estrogen.
Journal ArticleDOI
Molecular Cloning of Mouse 17β‐Hydroxysteroid Dehydrogenase Type 1 and Characterization of Enzyme Activity
TL;DR: Cl cloning of mouse 17 beta-HSD type-1 cDNA from an ovarian library generated from 4,4'-(1,2-diethyl-1, 2-ethenediyl)bisphenol-( diethylstilbestrol)-tr eated mice, and characterization of the corresponding enzyme are described.
References
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Book
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Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme.
TL;DR: The structure of the sterol 26-hydroxylase cDNA reveals it to be a mitochondrial cytochrome P-450, and blotting experiments revealed that the mRNA for this enzyme is expressed in many tissues and that it is encoded by a low copy number gene in the rabbit genome.
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Cloning, structure and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase
TL;DR: In this article, the authors used protein sequencing and molecular cloning techniques to isolate and characterize a cDNA encoding the rabbit mitochondrial sterol 26-hydroxylase, which catalyzes the first step in the oxidation of the side chain of sterol intermediates in the biosynthesis of bile acids.