Androgen insensitivity syndrome risk factors

The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Benign tumors of non-germ-cell origin include sertoli cell adenoma and hamartomas.

• The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.^[1]
• Benign tumors of non-germ-cell origin include Sertoli cell adenoma and hamartomas. ^[2]
• Studies have suggested an increased tumor risk of greater than 30% in late adulthood if gonadectomy is not done and a review of the risk of adult women with complete androgen insensitivity syndrome having a gonadal tumor could not be more specific than 0–22%. Specific analyses in large sample groups suggest a germ cell tumor risk as low as 0·8–2%, especially before puberty. ^[3]
• Evaluation of Relatives at Risk may help identify affected individuals at an early stage. ^[3]
  • It is advisable to evaluate the apparently asymptomatic older and younger siblings of a proband in order to identify as early as possible those who would benefit from institution of treatment and preventive measures.
  • For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone menarche, a karyotype can be done first. For those phenotypic females who have a 46,XY karyotype, molecular genetic testing for the known androgen receptor (AR) variant in the family can be pursued next. If the androgen receptor (AR) variant in the family is not known, androgen binding assays could be considered.

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