ea0099p358 | Reproductive and Developmental Endocrinology | ECE2024
Maione Luigi
, Bouligand Jerome
, Rousseau Antoine
, Prevost Salome
, Naule Lydie
, Salenave Sylvie
, Chanson Philippe
, Kaiser Ursula
, young Jacques
Background: PNPLA6 mutations are associated with complex autosomal recessive disorders including congenital hypogonadotropic hypogonadism (CHH): Gordon-Holmes syndrome, Boucher-Neuhauser syndrome and hereditary spastic paraplegia, which include ophthalmologic and neurologic disorders in addition to CHH. PNPLA6 gene encodes the neuropathy target esterase (NTE), an endoplasmic reticulum-associated enzyme intervening in the metabolism of membrane phospholipids.<...