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...

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...

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 ...

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...

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. We aimed to perform a genotype-phenotype analysis in Romanian patients with classical 21-hydroxylase deficiency.Patients and methods: We included 42 patients (13 males, 29 females, 19 with the salt wasting (SW) form, 29 with the simple virilizing (SV) form. Molecular analysis was performed by direct sequencing of PCR ampl...