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Androgen resistance syndrome(AIS)

MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
Synonyms: AIS; Androgen Insensitivity Syndrome; Androgen receptor deficiency; Androgen-Insensitivity Syndrome; Dihydrotestosterone receptor deficiency; spinobulbar muscular atrophy (SBMA; TESTICULAR FEMINIZATION SYNDROME; Testicular feminization syndrome (formerly)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected.
SNOMED CT: Androgen resistance syndrome (12313004); Androgen insensitivity syndrome (12313004)
 
Gene: AR
Cytogenetic location: Xq12
OMIM®: 300068

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]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Bruce Gottlieb  |  Lenore K Beitel  |  Mark A Trifiro   view full author information

Additional descriptions

From OMIM
The androgen insensitivity syndrome 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 results in hypospadias and micropenis with gynecomastia (Reifenstein syndrome; 312300).  http://www.omim.org/entry/300068
From GHR
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 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 can become 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 normal female sex characteristics, both male and female sex characteristics, or normal male sex characteristics. 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 are often infertile and tend to experience breast enlargement at puberty.  http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome

Clinical features

Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Neoplasm
MedGen UID:
227011
Concept ID:
C1306459
Finding
A malignant tumor at the original site of growth.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(NICHD)
Female external genitalia in individual with 46,XY karyotype
MedGen UID:
341167
Concept ID:
C1848178
Finding
Elevated follicle stimulating hormone
MedGen UID:
446904
Concept ID:
CN007235
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Gynecomastia
MedGen UID:
409558
Concept ID:
C1963120
Finding
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(NICHD)
Elevated follicle stimulating hormone
MedGen UID:
446904
Concept ID:
CN007235
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Absent facial hair
MedGen UID:
376305
Concept ID:
C1848192
Finding
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Abnormality of metabolism/homeostasis
MedGen UID:
446429
Concept ID:
CN001754
Finding
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.

Professional guidelines

Recent clinical studies

Diagnosis

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. 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

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