Endocrine Abstracts

Inhibins and activins were discovered based on their abilities to inhibit and stimulate follicle-stimulating hormone (FSH) secretion from pituitary gonadotrope cells. These ligands are members of the TGFbeta superfamily of secreted ligands. Current dogma suggests that activin B produced by gonadotropes stimulates FSH production in an autocrine/paracrine manner. Inhibins A and B from the gonads suppress FSH by competing for binding to activin receptors. This binding is aided by...

Journal of Molecular Endocrinology, 2019, 62(2): 67–78 (DOI: https://doi.org/10.1530/JME-18-0145)...

Introduction: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods/Design: A novel, hem...

Background: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods: A novel, hem...

Background: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods: A novel, hem...