hrp0094p2-402 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Description of a new variant in the MAMLD1 gene in an infant with microphallus and hypospadias

Riera Cristina Aguilar , Tutaya Egusquiza Dellanira Pamela , Canestrino Gennaro , Fernández Paula , Camats Núria , Clemente María , Yeste Diego

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...