Androgen Insensitivity Syndrome

Alternative Names

  • AIS
  • Testicular Feminization Syndrome
  • TFM
  • Androgen Receptor Deficiency
  • AR Deficiency
  • Dihydrotestosterone Receptor Deficiency
  • DHTR Deficiency

Associated Genes

Androgen Receptor
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

300068

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq12

Description

Androgen Insensitivity Syndrome (AIS/TFM) is a disorder of the endocrine glands in individuals with an XY karyotype, characterized by an inability of the body to react to the androgen hormone. Therefore, the individual shows evidence of feminization of the external genitalia at birth, abnormal secondary sexual characteristics at puberty, and infertility.

AIS is inherited in an X-linked recessive fashion. The defective gene in this condition is the Androgen Receptor gene, located on the X chromosome. The gene codes for the Androgen Receptor protein, which is located on cell surfaces, and allows the cells to respond to the androgen hormone, thereby promoting male sexual development and development of secondary sexual characteristics. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
300068.1EgyptFemale Female external genitalia in individual ...NM_000044.4:c.2668G>AHemizygousX-linked, RecessiveEssawi et al. 1997 XY individual reared...
300068.2EgyptFemaleNoNo Female external genitalia in individual ...NM_000044.4:c.2413T>CHemizygousX-linked, RecessiveGad et al. 2003 XY individual reared...
300068.3EgyptMaleNoNo Ambiguous genitaliaNM_000044.4:c.2521C>AHemizygousX-linked, RecessiveMazen et al. 2004 XY individual reared...
300068.4.1EgyptMale Ambiguous genitaliaNM_000044.4:c.2452C>GHemizygousX-linked, RecessiveLumbroso et al. 2004
300068.5.1KuwaitMaleYesNo Perineal hypospadias; Cryptorchidism; ...NM_000044.4:c.2567G>AHemizygousX-linked, RecessiveBatch et al. 1993 Sibling of 300068.5....
300068.5.2KuwaitMaleYesNo Perineal hypospadias; Cryptorchidism; ...NM_000044.4:c.2567G>AHemizygousX-linked, RecessiveBatch et al. 1993 Sibling of 300068.5....
300068.6.1LebanonFemaleYesYes Female external genitalia in individual ...NM_000044.3:c.1617-3C>GHemizygousX-linked, RecessiveGannagé-Yared et al. 2005 Sibling of 300068.6....
300068.6.2LebanonFemaleYesYes Female external genitalia in individual ...NM_000044.3:c.1617-3C>GHemizygousX-linked, RecessiveGannagé-Yared et al. 2005 Sibling of 300068.6....

Other Reports

Saudi Arabia

Al-Jurayyan (2011) reviewed the records of 81 children with ambiguous genitalia in Saudi Arabia.   Partial androgen insensitivity  and complete androgen insensitivity was diagnosed in three (11%) and four (14%) of the patients with XY karyotype, respectively. 

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