Journal ArticleDOI
Pubertal Boy with the 3β-Hydroxy steroid Dehydrogenase Defect
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This 13-yr-old boy's puberty was manifested by the development of male secondary sexual characteristics and marked gynecomastia, and there was a rise in plasma testosterone following human chorionic gonadotropin administration, suggesting that the pubertal age was reached.Abstract:
This is the first report of a child with the 3β-hydroxysteroid dehydrogenase (3β-HSD) defect to have reached a pubertal age. This 13-yr-old boy's puberty was manifested by the development of male secondary sexual characteristics and marked gynecomastia. Clinical support for the diagnosis consisted of his marked salt-wasting, hypospadias and family history of 2 infants who died with congenital adrenal hyperplasia and ambiguous external genitalia. Laboratory support for the diagnosis consisted of greatly elevated plasma pregnenolone,6 17-OH-pregnenolone and DHEA, as well as high urinary pregnenetriol and DHEA. The paradoxical presence of progesterone in blood and of pregnanetriol, androsterone and etiocholanolone in the urine of this and other patients probably results from peripheral conversion of pregnene compounds by liver 3β-HSD enzymes to pregnane compounds. In this patient there was a rise in plasma testosterone following human chorionic gonadotropin administration, suggesting that the pubert...read more
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Journal ArticleDOI
Molecular Biology of the 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Gene Family
Jacques Simard,Marie-Louise Ricketts,Sebastien Gingras,Penny Soucy,F. Alex Feltus,Michael H. Melner +5 more
TL;DR: To a large extent, the 3β-HSD gene family should have evolved to facilitate differential patterns of tissue- and cell-specific expression and regulation involving multiple signal transduction pathways, which are activated by multiple signalTransduction pathways.
Book ChapterDOI
Congenital adrenal hyperplasia
Maria I. New,Lenore S. Levine +1 more
TL;DR: This chapter presents an overview of all of the enzyme deficiencies resulting in CAH with the most extensive review of 21-hydroxylase deficiency which is the most common, first described, and most intensively studied of the enzymatic disorders.
Journal ArticleDOI
Late-Onset Adrenal Steroid 3β-Hydroxysteroid Dehydrogenase Deficiency. I. A Cause of Hirsutism in Pubertal and Postpubertal Women
Songya Pang,Alan J. Lerner,Elizabeth Stoner,Lenore S. Levine,S E Oberfield,Ivy Engel,Maria I. New +6 more
TL;DR: In these hirsute women, the morning serum delta 5-17P and DHEA concentrations were elevated, had a diurnal variation, and were suppressed with dexamethasone administration, proposing that partial adrenal 3 beta-hydroxysteroid dehydrogenase deficiency is the cause of hirsutism in these women.
Journal ArticleDOI
Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.
Eric Rhéaume,Jacques Simard,Yves Morel,Farida Mebarki,Milo Zachmann,Maguelone G. Forest,Maria I. New,Fernand Labrie +7 more
TL;DR: The nucleotide sequence of the two highly homologous genes encoding 3β–HSD isoenzymes in three classic 3β-HSD deficient patients belonging to two apparently unrelated pedigrees is described, providing the first elucidation of the molecular basis of this disorder.
Journal ArticleDOI
An Update of Congenital Adrenal Hyperplasia
TL;DR: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis that result in the absence or the decreased synthesis of cortisol from its cholesterol precursor.