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Androgen resistance syndrome(AIS)

MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
Synonyms: AIS; Androgen insensitivity; Androgen insensitivity syndrome; Androgen insensitivity syndrome due to coactivator deficiency; Androgen insensitivity, complete; Androgen receptor deficiency; Dihydrotestosterone receptor deficiency; TESTICULAR FEMINIZATION SYNDROME
SNOMED CT: Androgen resistance syndrome (12313004); Androgen insensitivity syndrome (12313004)
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.
 
Gene (location): AR (Xq12)
 
Monarch Initiative: MONDO:0019154
OMIM®: 300068
Orphanet: ORPHA754

Disease characteristics

Excerpted from the GeneReview: Androgen Insensitivity Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia. [from GeneReviews]
Authors:
Bruce Gottlieb  |  Mark A Trifiro   view full author information

Additional descriptions

From OMIM
Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity (PAIS; 312300), also called Reifenstein syndrome, results in hypospadias and micropenis with gynecomastia.  http://www.omim.org/entry/300068
From MedlinePlus Genetics
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female external sex characteristics or signs of both male and female sexual development.

Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity. Affected individuals have male internal sex organs (testes) that are undescended, which means they are abnormally located in the pelvis or abdomen. Undescended testes have a small chance of becoming cancerous later in life if they are not surgically removed. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.

The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have genitalia that look typically female, genitalia that have both male and female characteristics, or genitalia that look typically male. They may be raised as males or as females and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.  https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome

Clinical features

From HPO
Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Female external genitalia in individual with 46,XY karyotype
MedGen UID:
341167
Concept ID:
C1848178
Finding
The presence of female external genitalia in a person with a male karyotype.
Blind vagina
MedGen UID:
376302
Concept ID:
C1848182
Congenital Abnormality
The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.
Labial hypoplasia
MedGen UID:
342473
Concept ID:
C1850325
Finding
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Absent facial hair
MedGen UID:
376305
Concept ID:
C1848192
Finding
Absence of facial hair.
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Reduced number or density of pubic hair.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.

Professional guidelines

PubMed

Batsis JA, Villareal DT
Nat Rev Endocrinol 2018 Sep;14(9):513-537. doi: 10.1038/s41574-018-0062-9. PMID: 30065268Free PMC Article
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group
Hum Reprod 2004 Jan;19(1):41-7. doi: 10.1093/humrep/deh098. PMID: 14688154

Curated

EuroGentest, 2008

Recent clinical studies

Etiology

Aristizábal-Duque JE, Piedrahíta-Mejía JC
Rev Colomb Obstet Ginecol 2019 Sep;70(3):165-173. doi: 10.18597/rcog.3177. PMID: 31738486
Fontenele R, Costa-Santos M, Kater CE
Endocr Pract 2018 Feb;24(2):170-178. Epub 2017 Nov 16 doi: 10.4158/EP171987.OR. PMID: 29144824

Diagnosis

Aristizábal-Duque JE, Piedrahíta-Mejía JC
Rev Colomb Obstet Ginecol 2019 Sep;70(3):165-173. doi: 10.18597/rcog.3177. PMID: 31738486
Fontenele R, Costa-Santos M, Kater CE
Endocr Pract 2018 Feb;24(2):170-178. Epub 2017 Nov 16 doi: 10.4158/EP171987.OR. PMID: 29144824
Ocal G, Berberoğlu M, Siklar Z, Bilir P, Uslu R, Yağmurlu A, Tükün A, Akar N, Soygür T, Gültan S, Gedik VT
J Pediatr Endocrinol Metab 2010 Nov;23(11):1123-32. doi: 10.1515/jpem.2010.177. PMID: 21284325
Kempe A, Engels H, Schubert R, Meindl A, van der Ven K, Plath H, Rhiem K, Schwanitz G, Schmutzler RK
Gynecol Endocrinol 2002 Apr;16(2):107-11. PMID: 12012620
McCarthy DJ
Pediatr Rev 1994 Jan;15(1):39-40. PMID: 8121844

Prognosis

Aristizábal-Duque JE, Piedrahíta-Mejía JC
Rev Colomb Obstet Ginecol 2019 Sep;70(3):165-173. doi: 10.18597/rcog.3177. PMID: 31738486

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