Literature DB >> 25321150

5-Alpha reductase deficiency: a 40-year retrospective review.

Ijeoma Okeigwe1, Wendy Kuohung.   

Abstract

PURPOSE OF REVIEW: 5-Alpha reductase is an enzyme responsible for the conversion of testosterone to dihydrotestosterone. This key enzyme is responsible for triggering masculinization of the male external genitalia. Discovery of 5-alpha reductase deficiency as a syndrome of disordered male sexual development led to our molecular understanding of the role that this key enzyme plays in male sexual differentiation. This article will review the clinical and molecular history behind the discovery of 5-alpha reductase deficiency. RECENT
FINDINGS: Three different genes encoding for 5-alpha reductase have been identified, with 5-alpha reductase type 2 being implicated in disordered male sexual development.
SUMMARY: The discovery of 5-alpha reductase deficiency has not only shed light on the crucial role of 5-alpha reductase, testosterone, and dihydrotestosterone in male sexual differentiation but it also has facilitated the discovery of novel therapeutic applications of 5-alpha reductase inhibitors in clinical practice.

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Year:  2014        PMID: 25321150     DOI: 10.1097/MED.0000000000000116

Source DB:  PubMed          Journal:  Curr Opin Endocrinol Diabetes Obes        ISSN: 1752-296X            Impact factor:   3.243


  10 in total

Review 1.  Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Authors:  Emmanuèle C Délot; Jeanette C Papp; David E Sandberg; Eric Vilain
Journal:  Endocrinol Metab Clin North Am       Date:  2017-03-28       Impact factor: 4.741

Review 2.  The Roles of Androgens in Humans: Biology, Metabolic Regulation and Health.

Authors:  Marià Alemany
Journal:  Int J Mol Sci       Date:  2022-10-08       Impact factor: 6.208

3.  Loss of Raptor induces Sertoli cells into an undifferentiated state in mice.

Authors:  Minyu Xie; Xiao Hu; Lei Li; Zhi Xiong; Hanbin Zhang; Yuge Zhuang; Zicong Huang; Jinsheng Liu; Jingyao Lian; Chuyu Huang; Qiang Xie; Xiangjin Kang; Yong Fan; Xiaochun Bai; Zhenguo Chen
Journal:  Biol Reprod       Date:  2022-10-11       Impact factor: 4.161

Review 4.  Temporal, spatial, and genetic regulation of external genitalia development.

Authors:  Meade Haller; Liang Ma
Journal:  Differentiation       Date:  2019-09-10       Impact factor: 3.880

5.  Profiles of 5α-Reduced Androgens in Humans and Eels: 5α-Dihydrotestosterone and 11-Ketodihydrotestosterone Are Active Androgens Produced in Eel Gonads.

Authors:  Takashi Yazawa; Hiroyuki Inaba; Yoshitaka Imamichi; Toshio Sekiguchi; Junsuke Uwada; Mohammad Sayful Islam; Makoto Orisaka; Daisuke Mikami; Takanori Ida; Takahiro Sato; Yoshimichi Miyashiro; Satoru Takahashi; Md Rafiqul Islam Khan; Nobuo Suzuki; Akihiro Umezawa; Takeshi Kitano
Journal:  Front Endocrinol (Lausanne)       Date:  2021-03-23       Impact factor: 5.555

6.  Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting.

Authors:  Artha Falentin Putri Susilo; Kevin Dominique Tjandraprawira; Patrick Bayu; Hartanto Bayuaji
Journal:  Ann Med Surg (Lond)       Date:  2022-09-08

Review 7.  Intracrine androgen biosynthesis, metabolism and action revisited.

Authors:  Lina Schiffer; Wiebke Arlt; Karl-Heinz Storbeck
Journal:  Mol Cell Endocrinol       Date:  2017-09-01       Impact factor: 4.102

Review 8.  Caring for individuals with a difference of sex development (DSD): a Consensus Statement.

Authors:  Martine Cools; Anna Nordenström; Ralitsa Robeva; Joanne Hall; Puck Westerveld; Christa Flück; Birgit Köhler; Marta Berra; Alexander Springer; Katinka Schweizer; Vickie Pasterski
Journal:  Nat Rev Endocrinol       Date:  2018-07       Impact factor: 43.330

Review 9.  Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).

Authors:  Martin A Estermann; Craig A Smith
Journal:  Int J Mol Sci       Date:  2020-09-10       Impact factor: 5.923

10.  Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.

Authors:  Liwei Li; Junhong Zhang; Qing Li; Li Qiao; Pengcheng Li; Yi Cui; Shujun Li; Shirui Hao; Tongqian Wu; Lili Liu; Jianmin Yin; Pingsheng Hu; Xiaowei Dou; Shuping Li; Hui Yang
Journal:  Ital J Pediatr       Date:  2022-03-24       Impact factor: 2.638

  10 in total

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