Article
Molecular basis of androgen insensitivity syndromes.
Molecular and cellular endocrinology - 1 Mar 2021
Hornig Nadine C, Holterhus Paul-Martin
Abstract excerpt
Individuals with complete androgen insensitivity syndrome show a female genital phenotype despite 46, XY gonosomes and the presence of androgen producing testes. This clinical observation indicates the resistance of the body and its cells to androgens like testosterone. At the molecular level, this hormone resistance is caused by hemizygous loss of function mutations in the X-chromosomal androgen receptor (AR)...
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