STEROID 5α-REDUCTASE TYPE 2 DEFICIENCY

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Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency

and 6.78 at baseline, and 4.41 ug l−1, 168.5 ug l−1, and 26.40 after human chorionic gonadotropin (HCG) stimulation, respectively. Other hypothalamic-pituitary-axes' functions were normal. The patient was treated with HCG 2000 U i.m. 3 times every week for 9 months, and then human menopausal gonadotropin (HMG) 75 U i.m. was added 3 times a week for another 3 months. Mild Dear Editor, Kallmann s...

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Diagnosis of 5α–reductase 2 deficiency: is measurement of dihydrotestosterone essential?

BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdiagnosis. We reviewed alternative approaches for diagnosis of 5ARD. METHODS We conducted a retrospective review of the results of urinary steroid p...

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5α-Reductase Type 1 Modulates Insulin Sensitivity in Men

CONTEXT 5α-Reductase (5αR) types 1 and 2 catalyze the A-ring reduction of steroids, including androgens and glucocorticoids. 5α-R inhibitors lower dihydrotestosterone in benign prostatic hyperplasia; finasteride inhibits 5αR2, and dutasteride inhibits both 5αR2 and 5αR1. In rodents, loss of 5αR1 promotes fatty liver. OBJECTIVE Our objective was to test the hypothesis that inhibition of 5αR1 c...

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5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes

Glucocorticoids and androgens have both been implicated in the pathogenesis of nonalcoholic fatty liver disease (NAFLD); androgen deficiency in males, androgen excess in females, and glucocorticoid excess in both sexes are associated with NAFLD. Glucocorticoid and androgen action are regulated at a prereceptor level by the enzyme 5α-reductase type 2 (SRD5A2), which inactivates glucocorticoids t...

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Subcellular localization of the five members of the human steroid 5α-reductase family

In humans the steroid 5alpha-reductase (SRD5A) family comprises five integral membrane enzymes that carry out reduction of a double bond in lipidic substrates: Δ4-3-keto steroids, polyprenol and trans-enoyl CoA. The best-characterized reaction is the conversion of testosterone into the more potent dihydrotestosterone carried out by SRD5A1-2. Some controversy exists on their possible nuclear or ...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1993

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-199305001-00025