Anti-Müllerian hormone in disorders of sex determination and differentiation

REY, R.

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA

SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA

Año: 2005 vol. 49 p. 26 - 36

0004-2730

Masculinisation of internal and external genitalia during foetal development depends on the existence of two discrete testicular hormones: Leydig cell-secreted testosterone drives the differentiation of the Wolffian ducts, the urogenital sinus and the external genitalia, whereas Sertoli cell-produced anti-Mullerian hormone (AMH) provokes the regression of Mullerian ducts. The absence of AMH action in early foetal life results in the formation of the Fallopian tubes, the uterus and the upper third of the vagina. In 46,XY foetuses, lack of AMH may result from testicular dysgenesis affecting both Leydig and Sertoli cell populations: in this case persistence of Mullerian remnants is associated with ambiguous or female external genitalia. Alternatively, defective AMH action may result from mutations of the genes encoding for AMH or its receptor: in this condition known as Persistent Mullerian Duct Syndrome, testosterone production is normal and external genitalia are normally virilised. Finally, AMH may be normally secreted in intersex patients with defects restricted to androgen synthesis or action, resulting in patients with female or ambiguous external genitalia with no Mullerian derivatives.