Alexis Parada-Bustamante

TL;DR: Collectively in this cohort of 19 novel cases of SRY-negative 46,XX DSD, the duplications upstream of SOX9 account for ~10.5% of the cases, and are responsible for the disease phenotype, even when inherited from a normal father.

TL;DR: The results suggest that the CAG 21 allele seems to increase the risk of idiopathic Sertoli cell-only syndrome and the GGN 24 allele could be contributing to deranged androgen receptor function, associated with cryptorchidism and spermatogenic failure.

TL;DR: The intracellular mechanisms by which 2ME2 exerts its effects on reproductive and non-reproductive tissues will be described and a group of 2 ME2-target genes that could be used as biomarkers of 2ME1 under physiological or pathophysiological conditions will be reviewed.

TL;DR: Lc from infertile patients with signs of Lc dysfunction overexpressed aromatase and showed an increment of testicular E2, suggesting that increased expression of arom atase in Lc leads to higher E2 production and may account for the functional impairment of the Lc in patients with SCOS.

TL;DR: Boys with isolated hypospadias have longer CAG alleles in their AR, which may be related with the development of this congenital malformation.