Juan Pablo Méndez

TL;DR: The first report in which three cases of 46,XY complete PGD are attributed to mutations of the Desert hedgehog (DHH) gene, demonstrating that the genetic origin of this entity is heterogeneous and that disorders in other genes involved in the testis-determining pathway are implicated in abnormal testicular differentiation in humans.

TL;DR: The molecular study of patients with 5α‐reductase deficiency is described and it is found that point mutations within the 5 exons of the 5 α‐ reductase‐2 gene cause deficiency in males with pseudohermaphroditism.

TL;DR: It is affirm that the phenotypic spectrum of patients with gonadal dysgenesis due to mutations in DHH is variable, providing extended evidence that DHH constitutes a key gene in gonadal differentiation.

TL;DR: Over the past years, considerable progress has been achieved in the molecular characterization of these disorders by using a combination of strategies including cell biology, animal models, and by studying patients with these pathologic entities.

TL;DR: Evidence is provided that the E(90)K mutation impairs hGnRHR-effector coupling and the observation that sequence modifications that enhance surface expression of the receptor restore function, presents the possibility that loss of surface expression may underlie the severe phenotype exhibited by hypogonadotropic hypog onadism patients bearing this mutational defect.