Searchable abstracts of presentations at key conferences in endocrinology

ea0011p22 | Bone | ECE2006

Mutational Analysis of the PHEX gene in familial and sporadic cases of X-linked hypophosphatemia (XLH)

Clausmeyer S , Clemens PC , Schulze E , Raue F

Hypophosphatemic rickets is an X-linked dominant inherited bone disorder, characterized by renal phosphate wasting, inappropriately normal to low vitamin D serum levels and severe skeletal and dental defects from early childhood. Inactivating mutations in the PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X-chromosome) have been identified as the underlying cause, although the pathomechanism is unknown. The PHEX gene encodes a membrane-bound meta...

ea0016p88 | Bone and calcium | ECE2008

R-568 improves transmembrane signal transduction of inactivating mutations of the calcium-sensing receptor

Rus Ramona , Haag C , Schulze E , Frank-Raue K , Raue F , Schofl Christof

Inactivating mutations of the calcium-sensing receptor (CaSR) gene, present in homozygous or heterozygous forms, cause neonatal severe hyperparathyroidism or familial hypocalciuric hypercalcemia. The R-568 binds to the transmembrane region of the CaSR thereby enhancing its sensitivity to extracellular calcium ([Ca2+]o) and inhibiting parathyroid hormone (PTH) secretion. The therapeutic potential of calcimimetics like R-568 has been demonstrated in patient...

ea0011p52 | Clinical case reports | ECE2006

Infertility and bilateral testicular masses due to 21-hydroxylase deficiency

Müssig K , Kaltenbach S , Maser-Gluth C , Hartmann MF , Wudy SA , Horger M , Gallwitz B , Raue F , Häring H-U , Schulze E

Objective: Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood.Case report: A 39-year-old male patient presented for workup of infertility. Urologi...