Endocrine Abstracts

Patients affected by pseudohypoparathyroidism type 1b (PHP-1b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of expression depending on the pa...

Pseudovitamin D deficiency rickets also called vitamin D-deficiency rickets type 1 (VDDR 1) is an autosomal recessive disorder in which 25-hydroxyvitamin D3 1 alpha-hydroxylase gene (CYP27B1) is deficient. VDDR1 is characterized by hypocalcemia,hypophosphatemia elevated serum PTH levels and low or undetectable serum concentrations of 1,25(OH)2D.We screened for mutations CYP27B1 in ten individuals from seven unrelated families wit...

Objective: To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism patients (IHH).Methods: In a retrospective study we analysed the GnRHR and the GPR54 genes of 327 IHH patients including 105 females (36.5%) and 183 males (63.5%). Among the index cases (288 siblings) 267 were sporadic form (92.7...