Endocrine Abstracts

The GNAS locus (chromosome 20q13) yields multiple transcripts, including the stimulatory G protein subunit α (Gsα), NESP55, GsαXL and two noncoding RNAs, the GNAS1A-transcript (A/B) and the antisense transcript (AS). The corresponding promoters show a complex methylation pattern resulting in an allele-specific imprinting, with maternal expression of NESP55 and paternal expression of GNAS1A, GsαXL and AS. Gsα in most tissues is derived from both alleles...

Inactivating germline mutations in the HRPT2 tumor suppressor gene are the cause of the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The most common feature of HPT-JT is primary hyperparathyroidism, followed by ossifying fibromas of the maxilla and mandible, renal cysts and solid tumors. As recently recognized, mutations of this gene also play a central role in the molecular pathogenesis of parathyroid carcinoma.A 19-year-old woman presented with a g...

Context: Clinical studies are needed to classify rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC) into one of three clinical risk groups.Objective: We analyzed genotype–phenotype correlations associated with the RET protooncogene mutation R770Q in exon 13 which was detected simultaneously with a Y791N mutation in the same family.Results: Calcitonin determination in a 43-year-old female ...

Two dominant inherited disorders of phosphate homeostasis, X-linked hypophosphatemia (XLH), and ADHR are known to be caused by inactivating mutations in the PHEX gene or activating mutations in the FGF23 gene (fibroblast growth factor 23), respectively. Both diseases show a similar phenotype with renal phosphate wasting and inappropriately normal or low 1,25-(OH)2-Vitamin D3 serum levels, leading to hypophosphatemic rickets and osteomalacia. The different...