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
Integrated view on 17beta-hydroxysteroid dehydrogenases.
Gabriele Moeller,Jerzy Adamski +1 more
TL;DR: In this article, metabolic activities of 17β-HSDs are compared, their interplay with endogenous substrates summarised, and interlacing pathways depicted, and strategies on deciphering the physiological role of 17beta-HSD and the genetic predisposition for associated diseases are presented.
Journal ArticleDOI
Sebocytes are the Key Regulators of Androgen Homeostasis in Human Skin
TL;DR: Investigations show that specific enzyme expression and activity in cultured sebocytes and keratinocytes seem to allocate different duties to these cells in vitro.
Journal ArticleDOI
Human 17 beta-hydroxysteroid dehydrogenase type 1 and type 2 isoenzymes have opposite activities in cultured cells and characteristic cell- and tissue-specific expression.
TL;DR: The opposite reaction directions observed in the cultured cells suggest that type 1 is involved in oestradiol production in females while type 2 plays a role in the inactivation of this sex steroid in peripheral tissues, both in females and in males.
Journal ArticleDOI
Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review.
Lina Schiffer,Lise Barnard,Elizabeth S. Baranowski,Lorna C Gilligan,Angela E Taylor,Wiebke Arlt,Cedric H.L. Shackleton,Karl-Heinz Storbeck,Karl-Heinz Storbeck +8 more
TL;DR: In this article, an overview of steroid hormone biosynthesis and metabolism by the liver and peripheral tissues is presented, specifically highlighting the pathways linking and differentiating the serum and urine steroid metabolomes.
Journal ArticleDOI
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
Alm Boehmer,Albert O. Brinkmann,Lodewijk A. Sandkuijl,D. J. J. Halley,Martinus F. Niermeijer,Stefan Andersson,F. H. De Jong,Hülya Kayserili,M.A. de Vroede,B.J. Otten,C.W. Rouwé,Berenice B. Mendonca,C Rodrigues,H. Bode,P.E. de Ruiter,H.A. Delemarre-van de Waal,Sls Drop +16 more
TL;DR: A nationwide study on male pseudohermaphroditism among all pediatric endocrinologists and clinical geneticists in The Netherlands found that 17betaHSD3 deficiency can be reliably diagnosed by endocrine evaluation and mutation analysis and offers views into human diversity and disease.
References
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