ESPE Abstracts

Background: Immunoglobulin superfamily, member 1 (IGSF1) was originally proposed to function as an inhibin co-receptor in pituitary gonadotroph cells. More recently, however, loss of function mutations in the human IGSF1 gene were linked to a novel syndrome of central hypothyroidism, testicular enlargement, and variable prolactin-deficiency. Igsf1-deficient mice are also centrally hypothyroid, with reduced pituitary thyrotropin-releasing hormone receptor (<em...

Background: The immunoglobulin superfamily member 1 (IGSF1) gene encodes a plasma membrane glycoprotein enriched in pituitary and testes. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism (CeH), macroorchidism, and delayed pubertal rise of testosterone despite normal timing of testicular growth. This syndrome was discovered in patients with CeH; therefore, it is presently unknown whether IGSF1 mutations also cau...

Background: Loss-of-function of immunoglobulin superfamily member 1 (IGSF1) results in an X-linked syndrome of central hypothyroidism and macroorchidism, variable prolactin deficiency, GH deficiency, increased fat percentage, and delayed puberty testosterone rise despite normal timing of testicular growth.Methods: We investigated the spatial and temporal expression of IGSF1 at the protein and mRNA levels in fetal, neonatal, and adult Wistar rats, using i...

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...