Endocrine Abstracts

Background: A testicular adrenal rest tumor in an adult males who complaint with testicular enlargement and fertility request, and diagnosed with congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency with homozygous mutation L299P in the CYP11B1 gene and accompanied by impaired spermatogenesis and Leydig cell failure was reported.Case Report: A 27-year-old man was complaint with bilateral progressive painful enlargement of the testes, cont...

Fluorescence resonance energy transfer (FRET) using genetically encoded biosensors has proven to be a powerful technique to monitor the spatiotemporal dynamics of cAMP signals stimulated by Gs-coupled receptors in living cells. In contrast, real-time imaging of Gi-mediated cAMP signals under native conditions remains challenging. Here, we describe the use of transgenic mice ubiquitously expressing the highly sensitive cAMP sensor Epac1-camps for cAMP imaging in living pituitar...

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...

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...

Somatostatin and dopamine receptors are the major Gi-coupled receptors in somatotrope cells that inhibit hormone secretion from the anterior pituitary. Here, we adapted a novel fluorescence-based screening assay to characterize somatostatin and dopamine receptor signaling in a time-resolved manner. This minimal-invasive technique provides a robust and reliable read out for ligand-induced receptor activation in permanent cell lines and primary pituitary culture. The ...

Transsphenoidal surgery is the treatment of choice for acromegaly. Cure is defined by normalization of age-related IGF1 and sufficient suppression of GH in the oral glucose tolerance test (OGTT). We investigated, if early postoperative hormone testing gives reliable information whether complete resection of a tumor was achieved and compared these findings with further follow-up data.So far, 22 patients underwent OGTT within a week after surgery, starting...

Context: Recent data from controlled clinical trials have demonstrated that GLP-1 agonists are a well-tolerated therapy-option for weight loss in obese patients without type 2 diabetes mellitus.Objective: To investigate whether continuation of treatment, side-effects and effect on weight loss of GLP-1 agonists are equally promising in dairy clinical practice settings in non-diabetics.Methods: Obese, non-diabetic patients of our int...

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...

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...

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 ...