Journal ArticleDOI
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.
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TLDR
A combination of intersex phenotype and dysmorphology suggests that an error in a transcription factor may be an alternative to hydroxylation redox partner deficit as causative of the condition.About:
This article is published in Steroids.The article was published on 2003-10-01. It has received 30 citations till now. The article focuses on the topics: Steroid biosynthesis & Lyase activity.read more
Citations
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Journal ArticleDOI
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)
Nils Krone,Beverly A. Hughes,Gareth G. Lavery,Paul M. Stewart,Wiebke Arlt,Cedric H. L. Shackleton +5 more
TL;DR: This work has led to develop a simplified graphical representation of quantitative urinary steroid hormone profiles and diagnostic ratios, which remains the most powerful discovery tool for defining steroid disorder metabolomes.
Journal ArticleDOI
The backdoor pathway to dihydrotestosterone
TL;DR: This alternative pathway of DHT production appears to explain how potent androgens are produced in some normal and pathological conditions when the conventional androgen-biosynthetic pathways fail to account completely for the of patterns androgen synthesis that are observed.
Journal ArticleDOI
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
Wiebke Arlt,Elizabeth A. Walker,Nicole Draper,Hannah E Ivison,Jon P. Ride,Fabian Hammer,Susan M Chalder,Maria Borucka-Mankiewicz,Berthold P Hauffa,Ewa M. Malunowicz,Paul M. Stewart,Cedric H.L. Shackleton +11 more
TL;DR: Molecular pathogenesis of this form of congenital adrenal hyperplasia is caused by mutations in the gene encoding P450 oxidoreductase, an enzyme that is important in electron transfer from NADPH to P 450C17 and P450C21.
Journal ArticleDOI
Basic concepts and recent developments in human steroid hormone biosynthesis.
Hans K. Ghayee,Richard J. Auchus +1 more
TL;DR: The embryonic origins and the signaling mechanisms for the adrenals and gonads are similar, and steroid synthesis in these two glands are the major focus of this review, and peripheral steroid metabolism and the regulation of steroid hormone potency in target tissues are described.
Journal ArticleDOI
Progesterone: the forgotten hormone in men?
M. Oettel,A. K. Mukhopadhyay +1 more
TL;DR: Progesterone effects in men include those on the central nervous system (CNS) (mainly mediated by 5α-reduced progesterone metabolites as so-called neurosteroids), including blocking of gonadotropin secretion, sleep improvement, and effects on tumors in the CNS, as well as effects on the immune system, cardiovascular system, kidney function, adipose tissue, behavior, and respiratory system.
References
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Journal ArticleDOI
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
Jamie W. Foster,M A Dominguez-Steglich,S Guioli,Cheni Kwok,Polly A. Weller,Milena Stevanovic,J Weissenbach,S Mansour,I D Young,Peter N. Goodfellow +9 more
TL;DR: Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
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Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.
TL;DR: The data suggest that humanb 5 acts principally as an allosteric effector that interacts primarily with the P450c17·OR complex to stimulate 17,20-lyase activity.
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Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome
TL;DR: Hormonally regulated serine phosphorylation of human P450c17 suggests a possible mechanism for human adrenarche and may be a unifying etiologic link between the hyperandrogenism and insulin resistance that characterize the polycystic ovary syndrome.
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Fluconazole-induced congenital anomalies in three infants.
TL;DR: One of these infants was previously reported as having Antley-Bixler syndrome; however, given the chronology described herein and the similarity of this infant to the others, it is concluded that her deformities also represent the potent teratogenic effect of fluconazole.