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5α-Reductase 2 deficiency
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==Mechanism== [[5α-Reductase|5α-Reductase type 2]] (5αR2) is an [[enzyme]], encoded by the SRD5A2 gene, that is expressed in specific tissues in the male body from fetal development to adulthood.<ref name="Mendonca2016"/><ref>{{cite journal |last1=Levine |first1=A C |last2=Wang |first2=J P |last3=Ren |first3=M |last4=Eliashvili |first4=E |last5=Russell |first5=D W |last6=Kirschenbaum |first6=A |title=Immunohistochemical localization of steroid 5 alpha-reductase 2 in the human male fetal reproductive tract and adult prostate. |journal=The Journal of Clinical Endocrinology & Metabolism |date=January 1996 |volume=81 |issue=1 |pages=384–389 |doi=10.1210/jcem.81.1.8550782|pmid=8550782 |doi-access=free }}</ref><ref>{{cite journal |last1=Thigpen |first1=A E |last2=Silver |first2=R I |last3=Guileyardo |first3=J M |last4=Casey |first4=M L |last5=McConnell |first5=J D |last6=Russell |first6=D W |title=Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. |journal=Journal of Clinical Investigation |date=1 August 1993 |volume=92 |issue=2 |pages=903–910 |doi=10.1172/JCI116665|pmid=7688765 |pmc=294929 }}</ref> The enzyme catalyzes the transformation of [[testosterone]] (T) to [[5α-dihydrotestosterone]] (DHT) intracellularly. DHT is the most potent ligand to the [[androgen receptor]] (AR).<ref>{{cite journal |last1=Labrie |first1=F |last2=Sugimoto |first2=Y |last3=Luu-The |first3=V |last4=Simard |first4=J |last5=Lachance |first5=Y |last6=Bachvarov |first6=D |last7=Leblanc |first7=G |last8=Durocher |first8=F |last9=Paquet |first9=N |title=Structure of human type II 5 alpha-reductase gene. |journal=Endocrinology |date=September 1992 |volume=131 |issue=3 |pages=1571–1573 |doi=10.1210/endo.131.3.1505484|pmid=1505484 }}</ref> Upon binding, the DHT-AR complex translocates from cytoplasm to the nucleus and activates the androgen receptor-regulated genes involved in processes that include [[Sexual differentiation in humans|male sexual differentiation]].<ref name="Azzouni2012">{{cite journal |last1=Azzouni |first1=Faris |last2=Godoy |first2=Alejandro |last3=Li |first3=Yun |last4=Mohler |first4=James |title=The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases |journal=Advances in Urology |date=2012 |volume=2012 |page=530121 |doi=10.1155/2012/530121|pmid=22235201 |pmc=3253436 |doi-access=free }}</ref>
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