Androgen InsensitivityComments
parentGenetic disease
siblingsBalanced RearrangementCancer geneticsChromosome Number AbnormalitiesCystic FibrosisDown SyndromeDuchenne Muscular DystrophyFragile X SyndromeHemoglobinopathyHuntington DiseaseHurler SyndromeHyperphenylalaninemiamRNA Splicing AberrationsNondisjunctionPenis-At-Twelve SyndromeRelative RiskSickle Cell DiseaseSpinal Muscular AtrophyTay-Sachs DiseaseThalassemiaTriplet Repeat ExpansionsTrisomy 13Trisomy 18Unbalanced RearrangementUniparental Disomy

Androgen Insensitivity

Individuals with androgen insensitivity (testicular feminization, or Tfm) differentiate as female, but lack the internal female organs derived from the Mullerian ducts, since the testes are still present and secrete AMH. Thus they lack Fallopian tubes, uterus and vagina. The molecular basis for the syndrome appears to be that the individuals lack the steroid hormone receptor for testosterone (steroid hormone receptors are proteins which, upon binding to specific steroids, act as transcription factors to regulate the expression of specific genes). The syndrome maps to the X chromosome (note that the androgen receptor also maps to the X chromosome; thus the syndrome could be due to a mutation in the testosterone receptor).