Endocrine Abstracts

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 ...

X-linked IGSF1 (immunoglobulin superfamily, member 1) loss-of-function mutations in males are associated with central hypothyroidism, macroorchidism, and a variable spectrum of anterior pituitary dysfunction. Igsf1 deficient male mice also exhibit central hypothyroidism, however, the physiological and molecular function of IGSF1 in both species has not yet been elucidated. Although partial transient GH deficiency is a ra...

X-linked IGSF1 (immunoglobulin superfamily, member 1) loss-of-function mutations in males are associated with central hypothyroidism, macroorchidism, and a variable spectrum of anterior pituitary dysfunction. Igsf1 deficient male mice also exhibit central hypothyroidism, however, the physiological and molecular function of IGSF1 in both species has not yet been elucidated. Although partial transient GH deficiency is a ra...

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...