Endocrine Abstracts

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B (NKB) and its receptor NK3R, respectively, were recently discovered in kindreds with non syndromic normosmic congenital hypogonadotropic hypogonadism (nCHH), thus identifying a fundamental role of this pathway in the human gonadotrope axis.We investigated the consequences on gonadotrope axis of TAC3 and TACR3 invalidations in adult patients ...

Context: KISS1R mutations have been implicated in patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).Objective: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to two unrelated families, and to functionally characterize a novel KISS1R mutation.Results: The p.Tyr313His original mutant was found in the homozygous state in three affected kindr...