[引用][C] 类固醇5α-还原酶及5α-还原酶2 型缺陷症研究进展

伍学焱, 茅江峰, 史轶蘩, 邓洁英 - 基础医学与临床, 2006

Novel nucleotide insertions in two unrelated Indian patients with 5α reductase 2 deficiency leading to premature termination of SRD5A2 enzyme

I Shabir, ML Khurana, E Marumudi, R Khadgawat… - Steroids, 2013 - Elsevier
T is converted to a more potent androgen, DHT by the action of microsomal membrane
enzyme 5α reductase 2. Defects in 5α reductase 2 isozyme results in incomplete virilisation …

Androgens—Molecular Basis and Related Disorders

C Meaden, PJ Chedrese - Reproductive Endocrinology: A Molecular …, 2009 - Springer
The term androgen refers to any natural or synthetic compounds that stimulate or control
development and maintenance of masculine characteristics. Most commonly, androgens …

Apalutamide Modulates the Expression of Regulatory Genes for Prostate Cancer Cell Invasion and Migration In Vivo and In Vitro

GE Qualter - 2022 - search.proquest.com
The next generation antiandrogen, Apalutamide (Apa), improves both overall survival and
metastasis-free survival in men with castration-resistant prostate cancer (CRPC). In vitro and …

SRD5A2 gene Q126R exon 2 point mutation in unrelated Spanish male pseudohermaphrodite patients.

M Fernández-Cancio, C Esteban, P Andaluz… - … Journal on Disability …, 2005 - degruyter.com
Three unrelated Spanish patients born with ambiguous genitalia, 46, XY karyotype, normal
testosterone (T) secretion, and extremely low 5a-reductase activity in genital skin fibroblasts …

[图书][B] Genetic Steroid Disorders: Chapter 4A. Steroid 5α-Reductase 2 Deficiency

DW Russell, JD Wilson - 2013 - books.google.com
Loss-of-function mutations in the steroid 5α-reductase 2 gene (SRD5A2) cause a disorder of
male sexual differentiation in which the prostate does not form and external genitalia …

Genetic Defects of Androgen Resistance

K Qin - Genetic Diagnosis of Endocrine Disorders, 2010 - Elsevier
Publisher Summary This chapter discusses the genetic abnormalities associated with
androgen resistance. Androgen resistance is described as a congenital genetic disorder that …

Molecular genetics of non 21α-hydroxylase congenital adrenal hyperplasia and 5α-reductase deficiency in Saudi Arabia

MM Al Swailem - 2016 - search.proquest.com
ABSTRACT Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal
recessive disorders caused by deficiency of any of the steroidogenic enzymes involved in …

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2

DN Silva, MBP Toralles, C Hackel, LEC Oliveira… - 2005 - repositorio.ufba.br
Mutations of the steroid 5α-reductase type 2 (SRD5A2) gene in 46, XY subjects cause
masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In …

[引用][C] 5-Alfa redüktaz yetersizliğinde tanı ve klinik yaklaşım

M Öder, E Özbek