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Androgen Receptor Deficiencies

MedGen UID:
438190
•Concept ID:
C2713546
•
Disease or Syndrome
Synonyms: Androgen Receptor Deficiency; AR Deficiencies; AR Deficiency; Deficiencies, Androgen Receptor; Deficiencies, AR; Deficiencies, DHTR; Deficiencies, Dihydrotestosterone Receptor; Deficiency, Androgen Receptor; Deficiency, AR; Deficiency, DHTR; Deficiency, Dihydrotestosterone Receptor; DHTR Deficiencies; DHTR Deficiency; Dihydrotestosterone Receptor Deficiencies; Dihydrotestosterone Receptor Deficiency; Receptor Deficiencies, Androgen; Receptor Deficiencies, Dihydrotestosterone; Receptor Deficiency, Androgen; Receptor Deficiency, Dihydrotestosterone

Professional guidelines

PubMed

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.
Nordenström A, Ahmed SF, van den Akker E, Blair J, Bonomi M, Brachet C, Broersen LHA, Claahsen-van der Grinten HL, Dessens AB, Gawlik A, Gravholt CH, Juul A, Krausz C, Raivio T, Smyth A, Touraine P, Vitali D, Dekkers OM
Eur J Endocrinol 2022 Apr 21;186(6):G9-G49. doi: 10.1530/EJE-22-0073. PMID: 35353710Free PMC Article
Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS).
Lanciotti L, Cofini M, Leonardi A, Bertozzi M, Penta L, Esposito S
Int J Environ Res Public Health 2019 Apr 9;16(7) doi: 10.3390/ijerph16071268. PMID: 30970592Free PMC Article
Management of vaginal agenesis.
Nakhal RS, Creighton SM
J Pediatr Adolesc Gynecol 2012 Dec;25(6):352-7. Epub 2011 Aug 27 doi: 10.1016/j.jpag.2011.06.003. PMID: 21872517

Recent clinical studies

Etiology

Complete Androgen Insensitivity Syndrome: From Bench to Bed.
Tyutyusheva N, Mancini I, Baroncelli GI, D'Elios S, Peroni D, Meriggiola MC, Bertelloni S
Int J Mol Sci 2021 Jan 27;22(3) doi: 10.3390/ijms22031264. PMID: 33514065Free PMC Article
Androgen insensitivity syndrome.
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Androgen insensitivity syndrome.
Hughes IA, Werner R, Bunch T, Hiort O
Semin Reprod Med 2012 Oct;30(5):432-42. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324728. PMID: 23044881
Androgen resistance.
Hughes IA, Deeb A
Best Pract Res Clin Endocrinol Metab 2006 Dec;20(4):577-98. doi: 10.1016/j.beem.2006.11.003. PMID: 17161333

Diagnosis

Androgen insensitivity syndrome: a review.
Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F
J Endocrinol Invest 2023 Nov;46(11):2237-2245. Epub 2023 Jun 10 doi: 10.1007/s40618-023-02127-y. PMID: 37300628
The role of steroid hormones in the sexual differentiation of the human brain.
Bakker J
J Neuroendocrinol 2022 Feb;34(2):e13050. Epub 2021 Oct 27 doi: 10.1111/jne.13050. PMID: 34708466
Androgen insensitivity syndrome.
Gulía C, Baldassarra S, Zangari A, Briganti V, Gigli S, Gaffi M, Signore F, Vallone C, Nucciotti R, Costantini FM, Pizzuti A, Bernardo S, Porrello A, Piergentili R
Eur Rev Med Pharmacol Sci 2018 Jun;22(12):3873-3887. doi: 10.26355/eurrev_201806_15272. PMID: 29949163
Androgen insensitivity syndrome: a review.
Batista RL, Costa EMF, Rodrigues AS, Gomes NL, Faria JA Jr, Nishi MY, Arnhold IJP, Domenice S, Mendonca BB
Arch Endocrinol Metab 2018 Mar-Apr;62(2):227-235. doi: 10.20945/2359-3997000000031. PMID: 29768628Free PMC Article
Androgen insensitivity syndrome.
Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J
Lancet 2012 Oct 20;380(9851):1419-28. Epub 2012 Jun 13 doi: 10.1016/S0140-6736(12)60071-3. PMID: 22698698

Therapy

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.
Nordenström A, Ahmed SF, van den Akker E, Blair J, Bonomi M, Brachet C, Broersen LHA, Claahsen-van der Grinten HL, Dessens AB, Gawlik A, Gravholt CH, Juul A, Krausz C, Raivio T, Smyth A, Touraine P, Vitali D, Dekkers OM
Eur J Endocrinol 2022 Apr 21;186(6):G9-G49. doi: 10.1530/EJE-22-0073. PMID: 35353710Free PMC Article
Delayed pubarche.
Baldo F, Barbi E, Tornese G
Ital J Pediatr 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. PMID: 34488834Free PMC Article
Complete Androgen Insensitivity Syndrome: From Bench to Bed.
Tyutyusheva N, Mancini I, Baroncelli GI, D'Elios S, Peroni D, Meriggiola MC, Bertelloni S
Int J Mol Sci 2021 Jan 27;22(3) doi: 10.3390/ijms22031264. PMID: 33514065Free PMC Article
Androgen insensitivity syndrome.
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
Drug-induced gynecomastia: an evidence-based review.
Deepinder F, Braunstein GD
Expert Opin Drug Saf 2012 Sep;11(5):779-95. Epub 2012 Aug 6 doi: 10.1517/14740338.2012.712109. PMID: 22862307

Prognosis

Metabolic alterations in spinal and bulbar muscular atrophy.
Francini-Pesenti F, Vitturi N, Tresso S, Sorarù G
Rev Neurol (Paris) 2020 Dec;176(10):780-787. Epub 2020 Jul 4 doi: 10.1016/j.neurol.2020.03.020. PMID: 32631678
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Androgen insensitivity syndrome.
Mendoza N, Motos MA
Gynecol Endocrinol 2013 Jan;29(1):1-5. Epub 2012 Jul 20 doi: 10.3109/09513590.2012.705378. PMID: 22812659
Drug-induced gynecomastia: an evidence-based review.
Deepinder F, Braunstein GD
Expert Opin Drug Saf 2012 Sep;11(5):779-95. Epub 2012 Aug 6 doi: 10.1517/14740338.2012.712109. PMID: 22862307
Androgen insensitivity syndrome.
Patterson MN, McPhaul MJ, Hughes IA
Baillieres Clin Endocrinol Metab 1994 Apr;8(2):379-404. doi: 10.1016/s0950-351x(05)80258-7. PMID: 8092978

Clinical prediction guides

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.
Kumar A, Sharma R, Faruq M, Kumar M, Sharma S, Werner R, Hiort O, Vandana J
Sex Dev 2022;16(1):34-45. Epub 2021 Oct 22 doi: 10.1159/000519047. PMID: 34689141
Molecular basis of androgen insensitivity syndromes.
Hornig NC, Holterhus PM
Mol Cell Endocrinol 2021 Mar 1;523:111146. Epub 2020 Dec 29 doi: 10.1016/j.mce.2020.111146. PMID: 33385475
Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer.
Quigley DA, Dang HX, Zhao SG, Lloyd P, Aggarwal R, Alumkal JJ, Foye A, Kothari V, Perry MD, Bailey AM, Playdle D, Barnard TJ, Zhang L, Zhang J, Youngren JF, Cieslik MP, Parolia A, Beer TM, Thomas G, Chi KN, Gleave M, Lack NA, Zoubeidi A, Reiter RE, Rettig MB, Witte O, Ryan CJ, Fong L, Kim W, Friedlander T, Chou J, Li H, Das R, Li H, Moussavi-Baygi R, Goodarzi H, Gilbert LA, Lara PN Jr, Evans CP, Goldstein TC, Stuart JM, Tomlins SA, Spratt DE, Cheetham RK, Cheng DT, Farh K, Gehring JS, Hakenberg J, Liao A, Febbo PG, Shon J, Sickler B, Batzoglou S, Knudsen KE, He HH, Huang J, Wyatt AW, Dehm SM, Ashworth A, Chinnaiyan AM, Maher CA, Small EJ, Feng FY
Cell 2018 Jul 26;174(3):758-769.e9. Epub 2018 Jul 19 doi: 10.1016/j.cell.2018.06.039. PMID: 30033370Free PMC Article
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Androgen insensitivity syndrome.
Patterson MN, McPhaul MJ, Hughes IA
Baillieres Clin Endocrinol Metab 1994 Apr;8(2):379-404. doi: 10.1016/s0950-351x(05)80258-7. PMID: 8092978

Recent systematic reviews

Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.
Ramos RM, Petroli RJ, D'Alessandre NDR, Guardia GA, Afonso ACF, Nishi MY, Domenice S, Galante PAF, Mendonca BB, Batista RL
J Clin Endocrinol Metab 2023 Dec 21;109(1):68-79. doi: 10.1210/clinem/dgad470. PMID: 37572362
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
Systematic review: the etiology of esophageal squamous cell carcinoma in low-income settings.
Chetwood JD, Garg P, Finch P, Gordon M
Expert Rev Gastroenterol Hepatol 2019 Jan;13(1):71-88. Epub 2018 Nov 14 doi: 10.1080/17474124.2019.1543024. PMID: 30791842
Fertility in disorders of sex development: A review.
Van Batavia JP, Kolon TF
J Pediatr Urol 2016 Dec;12(6):418-425. Epub 2016 Nov 3 doi: 10.1016/j.jpurol.2016.09.015. PMID: 27856173
Systematic review of sexual function and satisfaction following the management of vaginal agenesis.
McQuillan SK, Grover SR
Int Urogynecol J 2014 Oct;25(10):1313-20. Epub 2014 Feb 15 doi: 10.1007/s00192-013-2316-3. PMID: 24531406

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    Practice guidelines

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