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
Citations
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.
TL;DR: Understanding steroidogenesis is of fundamental importance to understanding disorders of sexual differentiation, reproduction, fertility, hypertension, obesity, and physiological homeostasis.
Journal ArticleDOI
Overview of Steroidogenic Enzymes in the Pathway from Cholesterol to Active Steroid Hormones
Anita H. Payne,Dale B. Hales +1 more
TL;DR: This review presents a detailed description of the enzymes involved in the biosynthesis of active steroid hormones, with emphasis on the human and mouse enzymes and their expression in gonads, adrenal glands, and placenta.
Journal ArticleDOI
Short-chain dehydrogenases/reductases (SDR).
Hans Jörnvall,Bengt Persson,Maria Krook,Sílvia Atrian,Roser Gonzàlez-Duarte,Jonathan Jeffery,Debashis Ghosh +6 more
TL;DR: In the combined SDR superfamily, only one residue is strictly conserved and ascribed a crucial enzymatic function (Tyr 151 in the numbering system of human NAD(+)-linked prostaglandin dehydrogenase), and such a function is supported by chemical modifications, site-directed mutagenesis, and an active site position in those tertiary structures that have been characterized.
Journal ArticleDOI
Functional role of estrogen metabolism in target cells: review and perspectives.
Bao Ting Zhu,Allan H. Conney +1 more
TL;DR: Some of the many actions of estradiol may not be caused by est radiol per se, but may result from the formation of active estrogen metabolite(s) which function as local mediators or may activate their own unique receptors or effectors.
Journal ArticleDOI
Cloning and tissue distribution of the human 1 lβ-hydroxysteroid dehydrogenase type 2 enzyme
TL;DR: The 11β-hydroxysteroid dehydrogenase (11βHSD) as mentioned in this paper was found to protect the nonselective mineralocorticoid receptor from occupation by glucocorticity, and to modulate access of glucoc Corticoid to glucoc corticoid receptors resulting in protection of the fetus and gonads.
References
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Journal ArticleDOI
Differential estrogen substrate specificities for transiently expressed human placental 17 beta-hydroxysteroid dehydrogenase and an endogenous enzyme expressed in cultured COS-m6 cells
TL;DR: The metabolism of estrogens catalyzed by human placental 17 beta-hydroxysteroid dehydrogenase transiently expressed in COS-m6 cells was studied, and the properties of the enzyme were compared with those of an endogenous hydroxysteroid dehydration enzyme expressed in the cells, suggesting that different 17HSD enzymes exist, with differential estrogen substrate specificities in cultured cells.
Journal ArticleDOI
Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency
TL;DR: It is demonstrated that the 17‐keto‐steroid reductase deficiency of the patient was limited to the testes, and two types of peripheral tissues, skin fibroblasts and erythrocytes, had a normal conversion, as did the body overall as measured by the technique of androstenedione constant infusion.
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The Nature of the Defect in Familial Male Pseudohermaphroditism in Arabs of Gaza
TL;DR: Studies in six Arab individuals from Gaza with familial male pseudohermaphroditism (MPH) due to 17-ketoreductase deficiency revealed several metabolic aberrations associated with the disorder, supporting the contention that androstenedione was produced in the testes of the MPH patients mainly through the delta 5-pathway.
Journal ArticleDOI
Prostate 3α-hydroxysteroid dehydrogenase: Its partial purification and properties
TL;DR: The enzyme preferred NADP(H) to NAD(H), and reduction of 5α-dihydrotestosterone was more efficiently catalyzed by the enzyme than oxidation of 5 α-androstane-3α,17β-diol.
Journal ArticleDOI
Male Pseudohermaphroditism Due to 17 β-Hydroxysteroid Dehydrogenase Deficiency (17 βHSD) in a Large Arab Kinship. Studies on the Natural History of the Defect
TL;DR: In this article, the authors propose a method to solve the problem of "uniformity" in the following manner, i.i.d. 0.3.3 0