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46,XY Disorder of Androgen Action

MedGen UID:
859792
•Concept ID:
C3900198
•
Disease or Syndrome

Definition

Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY Disorder of Androgen Action

Professional guidelines

PubMed

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL
Clin Endocrinol (Oxf) 2016 Aug;85(2):247-57. Epub 2016 Apr 4 doi: 10.1111/cen.13051. PMID: 26935236
Review and management of 46,XY disorders of sex development.
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP
J Pediatr Urol 2013 Jun;9(3):368-79. Epub 2012 Dec 29 doi: 10.1016/j.jpurol.2012.12.002. PMID: 23276787

Recent clinical studies

Etiology

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.
Amais DSR, da Silva TER, Barros BA, de Andrade JGR, de Lemos-Marini SHV, de Mello MP, Marques-de-Faria AP, Mazzola TN, Guaragna MS, Fabbri-Scallet H, Vieira TAP, Viguetti-Campos NL, Morcillo AM, Hiort O, Maciel-Guerra AT, Guerra-Junior G
Ann Hum Biol 2022 Dec;49(7-8):274-279. Epub 2023 Jan 23 doi: 10.1080/03014460.2022.2134452. PMID: 36218438
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
Steroid 5α-reductase 2 deficiency.
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD
J Steroid Biochem Mol Biol 2016 Oct;163:206-11. Epub 2016 May 22 doi: 10.1016/j.jsbmb.2016.05.020. PMID: 27224879
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
The XY female.
Michala L, Creighton SM
Best Pract Res Clin Obstet Gynaecol 2010 Apr;24(2):139-48. Epub 2009 Nov 6 doi: 10.1016/j.bpobgyn.2009.09.009. PMID: 19896906

Diagnosis

The alternate pathway of androgen metabolism and window of sensitivity.
Renfree MB, Shaw G
J Endocrinol 2023 Sep 1;258(3) Epub 2023 Aug 1 doi: 10.1530/JOE-22-0296. PMID: 37343228
What Does AMH Tell Us in Pediatric Disorders of Sex Development?
Josso N, Rey RA
Front Endocrinol (Lausanne) 2020;11:619. Epub 2020 Sep 8 doi: 10.3389/fendo.2020.00619. PMID: 33013698Free PMC Article
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
Review and management of 46,XY disorders of sex development.
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP
J Pediatr Urol 2013 Jun;9(3):368-79. Epub 2012 Dec 29 doi: 10.1016/j.jpurol.2012.12.002. PMID: 23276787
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

Therapy

Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report.
Yang P, Liu X, Gao J, Qu S, Zhang M
Medicine (Baltimore) 2018 Aug;97(33):e11353. doi: 10.1097/MD.0000000000011353. PMID: 30113450Free PMC Article
Prenatal environmental risk factors for genital malformations in a population of 1442 French male newborns: a nested case-control study.
Gaspari L, Paris F, Jandel C, Kalfa N, Orsini M, Daurès JP, Sultan C
Hum Reprod 2011 Nov;26(11):3155-62. Epub 2011 Aug 25 doi: 10.1093/humrep/der283. PMID: 21868402
Hypospadias: interactions between environment and genetics.
Kalfa N, Philibert P, Baskin LS, Sultan C
Mol Cell Endocrinol 2011 Mar 30;335(2):89-95. Epub 2011 Jan 21 doi: 10.1016/j.mce.2011.01.006. PMID: 21256920
The masculinized female and investigation of abnormal sexual development.
Hughes IA
Baillieres Clin Endocrinol Metab 1998 Apr;12(1):157-71. doi: 10.1016/s0950-351x(98)80546-6. PMID: 9890067

Prognosis

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):19-26. doi: 10.1515/jpem-2016-0048. PMID: 27849622
Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.
Ganie Y, Aldous C, Balakrishna Y, Wiersma R
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):11-18. doi: 10.1515/jpem-2016-0152. PMID: 27754965
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development.
Abacı A, Çatlı G, Berberoğlu M
J Pediatr Endocrinol Metab 2015 Sep;28(9-10):1019-27. doi: 10.1515/jpem-2014-0522. PMID: 25879315
Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.
Vilchis F, Ramos L, Kofman-Alfaro S, Zenteno JC, Méndez JP, Chávez B
J Hum Genet 2003;48(7):346-51. Epub 2003 Jun 7 doi: 10.1007/s10038-003-0036-0. PMID: 12908100
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.
Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD
Medicine (Baltimore) 2000 Sep;79(5):299-309. doi: 10.1097/00005792-200009000-00003. PMID: 11039078

Clinical prediction guides

Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience.
Shamma RA, Atef S, Arafa N
Endokrynol Pol 2021;72(5):558-565. Epub 2021 May 19 doi: 10.5603/EP.a2021.0045. PMID: 34010442
Birth Weight in Different Etiologies of Disorders of Sex Development.
Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N
J Clin Endocrinol Metab 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460. PMID: 28359094
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development.
Abacı A, Çatlı G, Berberoğlu M
J Pediatr Endocrinol Metab 2015 Sep;28(9-10):1019-27. doi: 10.1515/jpem-2014-0522. PMID: 25879315
Molecular basis of androgen insensitivity.
Brinkmann AO
Mol Cell Endocrinol 2001 Jun 20;179(1-2):105-9. doi: 10.1016/s0303-7207(01)00466-x. PMID: 11420135

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