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Androgen insensitivity syndrome, mild(MAIS)

MedGen UID:
1788327
•Concept ID:
C5547981
•
Disease or Syndrome
Synonyms: MAIS; Undervirilized male syndrome
SNOMED CT: MAIS - minimal androgen insensitivity syndrome (1156317007); Mild androgen insensitivity syndrome (1156317007); MAIS - mild androgen insensitivity syndrome (1156317007); Minimal androgen insensitivity syndrome (1156317007)

Professional guidelines

PubMed

Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482

Recent clinical studies

Etiology

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.
Riccetto L, Vieira TP, Viguetti-Campos NL, Mazzola TN, Guaragna MS, Fabbri-Scallet H, Mello MP, Marques-de-Faria AP, Maciel-Guerra AT, Guerra Junior G
Sao Paulo Med J 2022;141(4):e2022281. Epub 2022 Nov 28 doi: 10.1590/1516-3180.2022.0281.R1.30082022. PMID: 36449967Free PMC Article
Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
Liu Q, Yin X, Li P
Reprod Biol Endocrinol 2020 Apr 28;18(1):34. doi: 10.1186/s12958-020-00593-0. PMID: 32345305Free PMC Article
Long-term consequences of androgen insensitivity syndrome.
Kosti K, Athanasiadis L, Goulis DG
Maturitas 2019 Sep;127:51-54. Epub 2019 Jun 5 doi: 10.1016/j.maturitas.2019.06.004. PMID: 31351520
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482
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

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
Mild Androgen Insensitivity Syndrome: The Current Landscape.
Batista RL, Craveiro FL, Ramos RM, Mendonca BB
Endocr Pract 2022 Sep;28(9):911-917. Epub 2022 May 31 doi: 10.1016/j.eprac.2022.05.009. PMID: 35660466
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, 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 insensitivity.
Gottlieb B, Pinsky L, Beitel LK, Trifiro M
Am J Med Genet 1999 Dec 29;89(4):210-7. doi: 10.1002/(sici)1096-8628(19991229)89:4<210::aid-ajmg5>3.0.co;2-p. PMID: 10727996

Therapy

Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482
Patients with testosterone deficit syndrome and depression.
Khera M
Arch Esp Urol 2013 Sep;66(7):729-36. PMID: 24047633

Prognosis

A case of mild partial androgen insensitivity syndrome in a juvenile boy.
Wang F, Shao S, He W, Hu S
J Int Med Res 2024 Mar;52(3):3000605241232520. doi: 10.1177/03000605241232520. PMID: 38530023Free PMC Article
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q
Clin Endocrinol (Oxf) 2017 Apr;86(4):621-627. Epub 2016 Nov 10 doi: 10.1111/cen.13255. PMID: 27862157
Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser.
Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano EF, Jiménez-Yuste V
Thromb Haemost 2010 Oct;104(4):718-23. Epub 2010 Jul 20 doi: 10.1160/TH10-02-0085. PMID: 20664893
A clinician looks at androgen resistance.
Balducci R, Ghirri P, Brown TR, Bradford S, Boldrini A, Boscherini B, Sciarra F, Toscano V
Steroids 1996 Apr;61(4):205-11. doi: 10.1016/0039-128x(96)00015-3. PMID: 8733002
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.
Batch JA, Davies HR, Evans BA, Hughes IA, Patterson MN
Arch Dis Child 1993 Apr;68(4):453-7. doi: 10.1136/adc.68.4.453. PMID: 8099270Free PMC Article

Clinical prediction guides

A case of mild partial androgen insensitivity syndrome in a juvenile boy.
Wang F, Shao S, He W, Hu S
J Int Med Res 2024 Mar;52(3):3000605241232520. doi: 10.1177/03000605241232520. PMID: 38530023Free PMC Article
Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.
Wang K, Wang Q, Chen J, Wang Y, Ma X
Reprod Sci 2022 Sep;29(9):2659-2663. Epub 2022 Apr 18 doi: 10.1007/s43032-022-00944-9. PMID: 35437733
Role of estrogen and androgen in pubertal skeletal physiology.
Frank GR
Med Pediatr Oncol 2003 Sep;41(3):217-21. doi: 10.1002/mpo.10340. PMID: 12868122
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
A clinician looks at androgen resistance.
Balducci R, Ghirri P, Brown TR, Bradford S, Boldrini A, Boscherini B, Sciarra F, Toscano V
Steroids 1996 Apr;61(4):205-11. doi: 10.1016/0039-128x(96)00015-3. PMID: 8733002

Supplemental Content

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