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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

Antiandrogen treatment induces stromal cell reprogramming to promote castration resistance in prostate cancer.
Wang H, Li N, Liu Q, Guo J, Pan Q, Cheng B, Xu J, Dong B, Yang G, Yang B, Wang X, Gu Y, Zhang G, Lian Y, Zhang W, Zhang M, Li T, Zang Y, Tan M, Li Q, Wang X, Yu Z, Jiang J, Huang H, Qin J
Cancer Cell 2023 Jul 10;41(7):1345-1362.e9. Epub 2023 Jun 22 doi: 10.1016/j.ccell.2023.05.016. PMID: 37352863
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
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
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

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

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
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
Androgenetic alopecia.
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563
Inducing puberty.
Delemarre EM, Felius B, Delemarre-van de Waal HA
Eur J Endocrinol 2008 Dec;159 Suppl 1:S9-15. Epub 2008 Sep 16 doi: 10.1530/EJE-08-0314. PMID: 18796540
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
Gynecomastia.
Narula HS, Carlson HE
Endocrinol Metab Clin North Am 2007 Jun;36(2):497-519. doi: 10.1016/j.ecl.2007.03.013. PMID: 17543732
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

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
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
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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