Anti-mullerian hormone receptor type 2 transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]. Anti-mullerian hormone receptor type 2 Anti-Mullerian hormone receptor type 2 is a protein that in humans is encoded by the AMHR2 gene. This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in
Familial male-limited precocious puberty combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used. Familial male-limited precocious puberty Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. Signs of puberty can develop as early as an age of 1 year. The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant condition with a mutation of the luteinizing hormone (LH) receptor. Treatment is with