17-Hydroxysteroid Dehydrogenase Deficiency

Known as: 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency, 17 alpha ketosteroid reductase deficiency of testis, 17-Ksr Deficiency 
Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to… (More)
National Institutes of Health

Papers overview

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Highly Cited
2006
Highly Cited
2006
Low birth weight associates with increased susceptibility to adult cardiometabolic and affective disorders spawning the notion of… (More)
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Highly Cited
2006
Highly Cited
2006
UNLABELLED Mechanical stimulation of cultured osteocytic cells attenuates their apoptosis. We report here that, conversely… (More)
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Review
2005
Review
2005
The 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase (3beta-HSD) isoenzymes are responsible for the oxidation and… (More)
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Highly Cited
2003
Highly Cited
2003
The source of NADPH-dependent cytosolic 3beta-hydroxysteroid dehydrogenase (3beta-HSD) activity is unknown to date. This… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND The disorders comprising human 'testicular dysgenesis syndrome' (TDS) may be increasing in incidence. TDS originates… (More)
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Highly Cited
2002
Highly Cited
2002
Cushing's syndrome and the metabolic syndrome share clinical similarities. Reports of alterations in the hypothalamic-pituitary… (More)
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Review
2000
Review
2000
In women and men, an important proportion of estrogens and androgens are synthesized locally at their site of action in… (More)
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Review
2000
Review
2000
We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an… (More)
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Highly Cited
1999
Highly Cited
1999
17Beta-hydroxysteroid dehydrogenases (17betaHSDs) play an essential role in the formation of active intracellular sex steroids… (More)
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Highly Cited
1999
Highly Cited
1999
To test the hypothesis that the hyperandrogenemia associated with polycystic ovary syndrome (PCOS) results from an intrinsic… (More)
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