Figure 6.

DSD due to steroidogenic defects in 46,XY patients: early fetal-onset primary hypogonadism with Leydig cell-specific dysfunction. The lack of Leydig cell differentiation, due to mutations in the LHCGR gene, or in steroidogenic proteins leads to insufficient androgen production by the testes resulting in undervirilization or complete feminization of the external genitalia. In these patients, there is no uterus or Fallopian tubes because anti-Müllerian hormone (AMH) is produced by Sertoli cells. Modified with permission from Rey et al. (13) © 2016 Elsevier Saunders.