Endocrine Abstracts

Gonadotropin-releasing hormone (GnRH) plays fundamental roles in the control of reproductive physiology. Perturbations in GnRH production or secretion cause infertility or subfertility. GnRH analogs are used clinically to both promote and inhibit the reproductive axis. GnRH is produced in neurons in the hypothalamus and is released in pulses into the pituitary portal system. The hormone binds to its cell surface receptor, GnRHR, on pituitary gonadotrope cells, where it stimula...

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)...

Context: Loss-of-function of immunoglobulin superfamily 1 (IGSF1) causes an X-linked syndrome of central hypothyroidism, macroorchidism, and variable prolactin deficiency, GH deficiency in childhood, delayed pubertal testosterone rise, and/or obesity. The clinical features advert towards a pivotal role for IGSF1 in the pituitary gland, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.Objective: To study detailed ...

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...

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...