Endocrine Abstracts

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...

Background: Bariatric surgery has shown to effectively reduce body weight and the prevalence of obesity associated comorbidities. However, especially data concerning diabetes is still conflicting. Also the benefit of surgical therapy varies strongly depending on individual patient characteristics.Methods: Therefore we intended to investigate a heterogeneous group of obese patients (n=215) undergoing bariatric surgery in terms of related comorbidit...

Background: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. We aimed to characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis.Design: Cross-sectional comparative.Patients and methods: Of 27 Caucasian patients with classic 21HD (4–31 years); 27 sex-, age- and BMI-matched controls. Cli...

The human somatostatin receptor 3 (hsst3) is expressed in about 50% of all neuroendocrine tumours. The sst3 receptor is unique among somatostatin receptors which can initiate apoptosis of tumour cells through activation of the tumour suppressor p53. Furthermore, treatment of the sst3 receptor with somatostatin or stable somatostatin analogues such as octreotide or pasireotide can inhibited tumour cell proliferation. However, at present little is known about the agonist-induced...

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...

Introduction: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) replacement therapy. Today daily GC doses are still higher than the reported adrenal cortisol production rate, and are not able to reproduce the physiological secretion pattern. This might result in long-term morbidities such as osteoporosis. Until now no prospective trial was performed investigating the long-term effect o...

Introduction: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause osteoporosis.Objective: i) Is bone mineral density (BMD) depending on the height of the daily glucocorticoid dose? ii) Is BMD decreasing over a 2-year period of glucocorticoid replacement therapy?Methods: Prospective, longitudinal study including 56 pati...

Background: Tumor-associated macrophages (TAMs) with dysregulated inflammatory phenotypes play a key role in carcinogenesis. In thyroid carcinoma (TC), excessive release of proinflammatory cytokines decreases the expression of sodium-iodine transporter and inflammation potentiates tumor progression.Aim: To assess the impact of TC cells on the functional reprograming of TC-induced macrophages at the level of transcriptome and metabolic pathways, and asses...

Introduction: Patients with hypoparathyroidism (hypoPT) suffer from a number of complaints and reduced quality of life (QoL) besides having serum values for disease-specific parameters in the target range. To be able to quantify symptoms in hypoPT patients we lately developed a disease-specific questionnaire, the Hypoparathyroidism patient questionnaire with 28 items (HPQ28). The aim of this study was to present normative values for the HPQ28.Methods: A ...