testicular dysgenesis

Testicular dysgenesis usually results in sexual ambiguity, with low testosterone and AMH serum levels and persistence of Müllerian derivatives.

AMH immunoreactivity is conserved in premeiotic seminiferous tubules of dysgenetic testes, and also in sex-cord cells of a gonadoblastoma.

In patients with asymmetric gonadal differentiation, the streak gonad is AMH-negative.

Secretion of AMH is a constitutive feature of the immature Sertoli cell and its expression is altered only by mutations of the AMH gene, but not by gonadal dysgenesis.

The degree of regression of Müllerian ducts and serum AMH levels reflect the number, not the functional value, of Sertoli cells present in the immature testis.

References

 Testicular dysgenesis does not affect expression of anti-müllerian hormone by Sertoli cells in premeiotic seminiferous tubules. Rey R, al-Attar L, Louis F, Jaubert F, Barbet P, Nihoul-Fékété C, Chaussain JL, Josso N. Am J Pathol. 1996 May;148(5):1689-98. PMID: 8623936