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
More filters
Journal ArticleDOI
17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.
TL;DR: A 12-day newborn newborn was referred to the hospital because of palpable gonads in the labia majora and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of HSD17B3 gene.
Journal ArticleDOI
A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.
TL;DR: The study presents the first mutation to be reported in exon 1 of the HSD17B3 gene, which was found in an Egyptian female with 46,XY karyotype and low testosterone/Δ4-androstenedione ratio.
Patent
17β HSD type 5 INHIBITOR
Tatsuya Niimi,Akio Kamikawa,Yasushi Amano,Tomohiko Yamaguchi,Kenichi Suzumura,Kentaro Enjo,Takashi Furutani,Akio Kakefuda,Yutaka Kondoh,Masaaki Hirano +9 more
TL;DR: In this article, it was found out that an N-sulfonylindole derivative, in which a carbon atom in the indole group is substituted by a carboxy group, a car boxy-substituted lower alkyl group or a car-boxy subgroup lower alkenyl group, has a potent activity of selectively inhibiting 17β HSD type 5 and is usable as a remedy and/or a preventive for diseases.
Dissertation
Hypospadias : Gene mapping and candidate gene studied
TL;DR: These findings indicate that the AKR1C3 and possibly also the KLF6 genes function as genetic risk factors for hypospadias, and suggest the androgen pathway is crucially important.
Book ChapterDOI
The Endocrinologist’s Approach to the Intersex Patient
TL;DR: This chapter reviews the concepts underlying the initial evaluation and management of the intersex child by the endocrinologist.
References
More filters
Book
Molecular Cloning: A Laboratory Manual
TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal ArticleDOI
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
TL;DR: By analyzing the effects of single base substitutions around the ATG initiator codon in a cloned preproinsulin gene, ACCATGG is identified as the optimal sequence for initiation by eukaryotic ribosomes.
Journal ArticleDOI
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.
Journal ArticleDOI
PROSITE : a dictionary of sites and patterns in proteins
TL;DR: A dictionary of sites and patterns found in protein sequences, developed, in the last two years, by the author, which is called PROSITE.
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.