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Disorder of Androgen Synthesis

MedGen UID:
890363
•Concept ID:
C4055126
•
Disease or Syndrome

Definition

An enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of Androgen Synthesis

Professional guidelines

PubMed

Current and investigational medications for the treatment of sarcopenia.
Rolland Y, Dray C, Vellas B, Barreto PS
Metabolism 2023 Dec;149:155597. Epub 2023 Jun 20 doi: 10.1016/j.metabol.2023.155597. PMID: 37348598
Treatment of Benign Prostatic Hyperplasia by Natural Drugs.
Csikós E, Horváth A, Ács K, Papp N, Balázs VL, Dolenc MS, Kenda M, Kočevar Glavač N, Nagy M, Protti M, Mercolini L, Horváth G, Farkas Á, On Behalf Of The Oemonom
Molecules 2021 Nov 25;26(23) doi: 10.3390/molecules26237141. PMID: 34885733Free PMC Article
EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent.
Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, Fanti S, Fossati N, Gandaglia G, Gillessen S, Grivas N, Grummet J, Henry AM, van der Kwast TH, Lam TB, Lardas M, Liew M, Mason MD, Moris L, Oprea-Lager DE, van der Poel HG, Rouvière O, Schoots IG, Tilki D, Wiegel T, Willemse PM, Cornford P
Eur Urol 2021 Feb;79(2):243-262. Epub 2020 Nov 7 doi: 10.1016/j.eururo.2020.09.042. PMID: 33172724

Recent clinical studies

Etiology

Association of Insulin Resistance and Elevated Androgen Levels with Polycystic Ovarian Syndrome (PCOS): A Review of Literature.
Xu Y, Qiao J
J Healthc Eng 2022;2022:9240569. Epub 2022 Mar 21 doi: 10.1155/2022/9240569. PMID: 35356614Free PMC Article
Normal and Premature Adrenarche.
Rosenfield RL
Endocr Rev 2021 Nov 16;42(6):783-814. doi: 10.1210/endrev/bnab009. PMID: 33788946Free PMC Article
Androgen Therapy in Women.
Vegunta S, Kling JM, Kapoor E
J Womens Health (Larchmt) 2020 Jan;29(1):57-64. Epub 2019 Nov 5 doi: 10.1089/jwh.2018.7494. PMID: 31687883
Polycystic ovary syndrome.
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637
Effects of androgenic-anabolic steroids in athletes.
Hartgens F, Kuipers H
Sports Med 2004;34(8):513-54. doi: 10.2165/00007256-200434080-00003. PMID: 15248788

Diagnosis

Triplet or Doublet Therapy in Metastatic Hormone-sensitive Prostate Cancer Patients: A Systematic Review and Network Meta-analysis.
Mandel P, Hoeh B, Wenzel M, Preisser F, Tian Z, Tilki D, Steuber T, Karakiewicz PI, Chun FKH
Eur Urol Focus 2023 Jan;9(1):96-105. Epub 2022 Sep 1 doi: 10.1016/j.euf.2022.08.007. PMID: 36058809
Approach to androgen excess in women: Clinical and biochemical insights.
Cussen L, McDonnell T, Bennett G, Thompson CJ, Sherlock M, O'Reilly MW
Clin Endocrinol (Oxf) 2022 Aug;97(2):174-186. Epub 2022 Mar 29 doi: 10.1111/cen.14710. PMID: 35349173Free PMC Article
Androgens in women: Androgen-mediated skin disease and patient evaluation.
Bienenfeld A, Azarchi S, Lo Sicco K, Marchbein S, Shapiro J, Nagler AR
J Am Acad Dermatol 2019 Jun;80(6):1497-1506. Epub 2018 Oct 10 doi: 10.1016/j.jaad.2018.08.062. PMID: 30312644
Polycystic ovary syndrome.
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637
Androgenetic alopecia.
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563

Therapy

Triplet or Doublet Therapy in Metastatic Hormone-sensitive Prostate Cancer Patients: A Systematic Review and Network Meta-analysis.
Mandel P, Hoeh B, Wenzel M, Preisser F, Tian Z, Tilki D, Steuber T, Karakiewicz PI, Chun FKH
Eur Urol Focus 2023 Jan;9(1):96-105. Epub 2022 Sep 1 doi: 10.1016/j.euf.2022.08.007. PMID: 36058809
Hormonal Therapy for Prostate Cancer.
Desai K, McManus JM, Sharifi N
Endocr Rev 2021 May 25;42(3):354-373. doi: 10.1210/endrev/bnab002. PMID: 33480983Free PMC Article
Androgen Therapy in Women.
Vegunta S, Kling JM, Kapoor E
J Womens Health (Larchmt) 2020 Jan;29(1):57-64. Epub 2019 Nov 5 doi: 10.1089/jwh.2018.7494. PMID: 31687883
Polycystic ovary syndrome.
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637
Androgenetic alopecia.
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563

Prognosis

The Genomic and Epigenomic Landscape of Double-Negative Metastatic Prostate Cancer.
Lundberg A, Zhang M, Aggarwal R, Li H, Zhang L, Foye A, Sjöström M, Chou J, Chang K, Moreno-Rodriguez T, Shrestha R, Baskin A, Zhu X, Weinstein AS, Younger N, Alumkal JJ, Beer TM, Chi KN, Evans CP, Gleave M, Lara PN, Reiter RE, Rettig MB, Witte ON, Wyatt AW, Feng FY, Small EJ, Quigley DA
Cancer Res 2023 Aug 15;83(16):2763-2774. doi: 10.1158/0008-5472.CAN-23-0593. PMID: 37289025Free PMC Article
Scaffold-Free Endometrial Organoids Respond to Excess Androgens Associated With Polycystic Ovarian Syndrome.
Wiwatpanit T, Murphy AR, Lu Z, Urbanek M, Burdette JE, Woodruff TK, Kim JJ
J Clin Endocrinol Metab 2020 Mar 1;105(3):769-80. doi: 10.1210/clinem/dgz100. PMID: 31614364Free PMC Article
Inositol and acne.
Pezza M, Carlomagno V, Casucci G
G Ital Dermatol Venereol 2015 Dec;150(6):649-53. Epub 2014 Jul 31 PMID: 25077885
Androgenetic alopecia.
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563
Sex differences in the brain: implications for explaining autism.
Baron-Cohen S, Knickmeyer RC, Belmonte MK
Science 2005 Nov 4;310(5749):819-23. doi: 10.1126/science.1115455. PMID: 16272115

Clinical prediction guides

First-line Systemic Treatment Options for Metastatic Castration-Sensitive Prostate Cancer: A Living Systematic Review and Network Meta-analysis.
Riaz IB, Naqvi SAA, He H, Asghar N, Siddiqi R, Liu H, Singh P, Childs DS, Ravi P, Hussain SA, Murad MH, Boorjian SA, Sweeney C, Van Allen EM, Bryce AH
JAMA Oncol 2023 May 1;9(5):635-645. doi: 10.1001/jamaoncol.2022.7762. PMID: 36862387Free PMC Article
Should Dehydroepiandrosterone Be Administered to Women?
Wierman ME, Kiseljak-Vassiliades K
J Clin Endocrinol Metab 2022 May 17;107(6):1679-1685. doi: 10.1210/clinem/dgac130. PMID: 35254428Free PMC Article
Role of androgens in the ovary.
Walters KA, Handelsman DJ
Mol Cell Endocrinol 2018 Apr 15;465:36-47. Epub 2017 Jul 4 doi: 10.1016/j.mce.2017.06.026. PMID: 28687450
Sex differences in the brain: implications for explaining autism.
Baron-Cohen S, Knickmeyer RC, Belmonte MK
Science 2005 Nov 4;310(5749):819-23. doi: 10.1126/science.1115455. PMID: 16272115
Effects of androgenic-anabolic steroids in athletes.
Hartgens F, Kuipers H
Sports Med 2004;34(8):513-54. doi: 10.2165/00007256-200434080-00003. PMID: 15248788

Recent systematic reviews

Triplet or Doublet Therapy in Metastatic Hormone-sensitive Prostate Cancer Patients: A Systematic Review and Network Meta-analysis.
Mandel P, Hoeh B, Wenzel M, Preisser F, Tian Z, Tilki D, Steuber T, Karakiewicz PI, Chun FKH
Eur Urol Focus 2023 Jan;9(1):96-105. Epub 2022 Sep 1 doi: 10.1016/j.euf.2022.08.007. PMID: 36058809
Effect of yoga on polycystic ovarian syndrome: A systematic review.
Thakur D, Saurabh Singh DS, Tripathi DM, Lufang D
J Bodyw Mov Ther 2021 Jul;27:281-286. Epub 2021 Mar 5 doi: 10.1016/j.jbmt.2021.02.018. PMID: 34391246
EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent.
Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, Fanti S, Fossati N, Gandaglia G, Gillessen S, Grivas N, Grummet J, Henry AM, van der Kwast TH, Lam TB, Lardas M, Liew M, Mason MD, Moris L, Oprea-Lager DE, van der Poel HG, Rouvière O, Schoots IG, Tilki D, Wiegel T, Willemse PM, Cornford P
Eur Urol 2021 Feb;79(2):243-262. Epub 2020 Nov 7 doi: 10.1016/j.eururo.2020.09.042. PMID: 33172724
Androgenetic alopecia: a review.
Lolli F, Pallotti F, Rossi A, Fortuna MC, Caro G, Lenzi A, Sansone A, Lombardo F
Endocrine 2017 Jul;57(1):9-17. Epub 2017 Mar 28 doi: 10.1007/s12020-017-1280-y. PMID: 28349362
The prevalence and phenotypic features of polycystic ovary syndrome: a systematic review and meta-analysis.
Bozdag G, Mumusoglu S, Zengin D, Karabulut E, Yildiz BO
Hum Reprod 2016 Dec;31(12):2841-2855. Epub 2016 Sep 22 doi: 10.1093/humrep/dew218. PMID: 27664216

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