Endocrine Abstracts

Most mutations found in the androgen receptor (AR) are associated with some form of androgen insensitivity syndrome (AIS), and correlate with a loss of either hormone, DNA or coactivator binding. For some mutations in the ligand binding domain (LBD) of the AR, it is unclear what the underlying mechanism of the AIS could be. In the beginning of 2017, a new dimerization interface was uncovered in a crystal structure of the ligand-binding domain (LBD) which provides a possible me...

Background: Salivary biomarkers are attractive diagnostic tools for paediatric practice, enabling non-invasive sampling at home. Salivary cortisol (SCl) and cortisone (SCn) are sensitive markers of adrenal insufficiency during inhaled corticosteroid treatment(1). SCn is reported to be the best correlate of plasma cortisol. Measurements of SCl may not be necessary, reducing cost and sample volumes.Eleven beta hydroxysteroid dehydrogenase type 2...

Introduction: Bone metabolism is impaired in several lipid storage diseases. At now no data are available in Fabry disease (FD), a genetic lipid storage disease characterized by systemic accumulation of glicolipids. The aim of this study was to evaluate bone metabolism and calcium/vitamin-D pathway in patients with FD.Methods/design: Study population included 15 FD patients (8 M and 7 F, age 28–59 years) and 15 sex-, age- and BMI-matched normal subj...

Background: Craniopharyngiomas are benign tumors of the parasellar and sellar region. Patients with craniopharyngioma, treated with surgery, have comorbidities such as obesity and multiple pituitary deficiencies.Aim: To evaluate the metabolic parameters of patients with craniopharyngioma treated with surgery.Methods: We recruited 20 patients with craniopharyngioma (M=11, 46.6±12.6) and 20 patients (M=10, 53.5&#17...

Objective: To compare the effects of a classic therapy to those of a novel treatment for androgen excess in adolescent girls.Study design: Randomized, open-labeled trial over 12 months.Study participants: Adolescents (n=34; mean age 16 year, BMI 23 kg/m2) with hyperinsulinemic androgen excess and without risk of pregnancy.Interventions: Ethinyl estradiol-cyproterone acetate (EE-CA; Diane 35 ...

Background: Primary hyperparathyroidism (PHPT) affects mainly cortical bone. It is thought that PTH indirectly regulates the activity of osteoclasts by means of the osteoprotegerin/ligand of the receptor activator of nuclear factor-κβ (OPG/RANKL) system. Several studies have confirmed that OPG and RANKL loci are determinants of bone mineral density (BMD) in the general population. The aim of this study is to analyze the relationship between fractures and BMD and the ...

Human securin, known also as pituitary tumor transforming gene (PTTG), has established oncogenic and cell regulatory functions. PTTG transforms cells in vitro, inhibits sister chromatid separation and regulates secretion of fibroblast growth factor-2 (FGF-2). FGF-2 is a key regulator of CNS development and PTTG/securin expression has previously been reported in murine fetal brain. We examined mRNA and protein expression of PTTG and FGF-2 in 35 first trimester (7-12 weeks) and ...

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to a haploinsufficiency of the zinc-finger transcription factor, GATA3 (Nature (2000) 406: 419) whose gene is located on chromosome 10p15. In order to further characterise GATA3 abnormalities we have investigated 6 HDR patients for GATA3 mutations. Leukocyte DNA samples from the 6 probands and an unrelated normal individual were used with 9 pairs of oligonucleotide...

The association of hyperandrogenism and insulin resistance is common in several syndromes. The proposed mechanism is the stimulation of ovarian theca cells by insulin to produce testosterone. Weight loss, improves insulin resistance, reduces insulin levels and consequently decreases circulating androgens.Material and methods:Ten female subjects with severe obesity and hyperandrogenism were evaluated before and after weight loss at...

Permanent pan-anterior hypopituitarism is a rare complication of bacterial sinusitis, with only six cases reported worldwide. However, all were reported before the advent of MR imaging and most did not have what is now regarded as gold standard evaluation of pituitary function. Also, all previous cases noted an interval of months between resolution of sinusitis and development of hypopituitarism. We report two cases of previously healthy Caucasian adults who developed pan-ante...