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Complete androgen insensitivity syndrome(CAIS)

MedGen UID:: 183188
•Concept ID:: C0936016
•: Disease or Syndrome

Synonyms:	CAIS; Complete androgen insensitivity syndrome, complete
SNOMED CT:	Complete androgen insensitivity syndrome (368851000119102); Complete androgen resistance syndrome (368851000119102); CAIS - complete androgen insensitivity syndrome (368851000119102)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0021023
OMIM®:	313700
Orphanet:	ORPHA99429

Definition

A form of androgen insensitivity syndrome (AIS) characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. The condition is due to mutations in the androgen receptor (AR) gene which is located on the long arm of the X-chromosome (Xq11-12). The AR is a nuclear transcription factor comprising three functional domains. Mutations are distributed throughout the gene, predominantly in 5 of the 8 exons that code for the ligand binding domain. The CAIS phenotype is associated with an AR mutation that completely disrupts AR function. The condition is X-linked recessive. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAndrogen resistance syndrome
- CROGVAndrogen insensitivity syndrome, mild
- CROGVComplete androgen insensitivity syndrome
- CROGVPartial androgen insensitivity syndrome

Congenital Systemic Disorder
- Abnormality of the genitourinary system
  - Congenital Reproductive System Abnormality
    - Disorder of sexual differentiation
      - 46,XY disorder of sex development
        Androgen resistance syndrome
        Complete androgen insensitivity syndrome

Professional guidelines

PubMed

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: 30970592 Free 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

Hormonal management of complete androgen insensitivity syndrome from adolescence onward.

Bertelloni S, Dati E, Baroncelli GI, Hiort O
Horm Res Paediatr 2011;76(6):428-33. Epub 2011 Nov 29 doi: 10.1159/000334162. PMID: 22156544

See all (11)

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: 33514065 Free PMC Article

Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.

Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ
J Clin Endocrinol Metab 2020 Sep 1;105(9) doi: 10.1210/clinem/dgaa404. PMID: 32594127

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: 30970592 Free 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

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

See all (125)

Diagnosis

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

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

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

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: 30970592 Free 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

See all (170)

Therapy

Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome.

Auer MK, Birnbaum W, Hartmann MF, Holterhus PM, Kulle A, Lux A, Marshall L, Rall K, Richter-Unruh A, Werner R, Wudy SA, Hiort O
Endocrine 2022 Jun;76(3):722-732. Epub 2022 Mar 8 doi: 10.1007/s12020-022-03017-8. PMID: 35258786 Free 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: 33514065 Free 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: 30970592 Free PMC Article

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy.

King TFJ, Wat WZM, Creighton SM, Conway GS
Clin Endocrinol (Oxf) 2017 Aug;87(2):136-140. Epub 2017 Jun 8 doi: 10.1111/cen.13368. PMID: 28493277

Hormonal management of complete androgen insensitivity syndrome from adolescence onward.

Bertelloni S, Dati E, Baroncelli GI, Hiort O
Horm Res Paediatr 2011;76(6):428-33. Epub 2011 Nov 29 doi: 10.1159/000334162. PMID: 22156544

See all (34)

Prognosis

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

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: 30970592 Free PMC Article

Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome.

Cools M, Looijenga L
Sex Dev 2017;11(4):175-181. Epub 2017 Jul 19 doi: 10.1159/000477921. PMID: 28719895

Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis.

Chaudhry S, Tadokoro-Cuccaro R, Hannema SE, Acerini CL, Hughes IA
J Pediatr Urol 2017 Oct;13(5):498.e1-498.e6. Epub 2017 Mar 14 doi: 10.1016/j.jpurol.2017.02.013. PMID: 28351649

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

Kaprova-Pleskacova J, Stoop H, Brüggenwirth H, Cools M, Wolffenbuttel KP, Drop SL, Snajderova M, Lebl J, Oosterhuis JW, Looijenga LH
Mod Pathol 2014 May;27(5):721-30. Epub 2013 Nov 1 doi: 10.1038/modpathol.2013.193. PMID: 24186138

See all (48)

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

Participant- and Clinician-Reported Long-Term Outcomes After Surgery in Individuals with Complete Androgen Insensitivity Syndrome.

Duranteau L, Rapp M, van de Grift TC, Hirschberg AL, Nordenskjöld A; dsd-LIFE group
J Pediatr Adolesc Gynecol 2021 Apr;34(2):168-175. Epub 2020 Nov 25 doi: 10.1016/j.jpag.2020.11.012. PMID: 33248216

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy.

King TFJ, Wat WZM, Creighton SM, Conway GS
Clin Endocrinol (Oxf) 2017 Aug;87(2):136-140. Epub 2017 Jun 8 doi: 10.1111/cen.13368. PMID: 28493277

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

See all (77)