Endocrine Abstracts

The myokine irisin is secreted after cleavage of the transmembrane protein Fibronectin type III domain-containing protein five and was shown to induce a thermogenic program in white adipose tissue. This cleavage can be induced by exercise, thus linking exercise with browning of adipose tissue. We investigated the response of Fndc5/irisin as well as its inducer Peroxisome proliferator-activated receptor gamma co-activator 1α (Ppargc1a) in mice long-term selected for high t...

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...

Introduction: X-linked hypophosphatemic rickets is the most common form of familial hypophosphatemic rickets. It is caused by a defect in renal phosphate transport leading to phosphate wasting and hypophosphatemia. Furthermore 1,25-dihydroxyvitamin D concentrations are inappropriately normal in regard to hypophosphatemia. Clinical manifestation of the disease are skeletal deformities, short stature, osteomalacia, dental abscesses, bone pain, and loss of hearing. PHEX is locate...

Introduction: A newborn baby boy of a family of Asian origin with an uncommon, but logical diagnosis.Case: Of 8 days old, term baby boy. Normal pregnancy, spontaneous delivery, uncomplicated postnatal period. On day 5, jerking movements of the whole body. Fully breastfed, not feeding well lately. Medical and neurological clinical examination normal. Tonic-clonic epileptic fit during the 1 h of admission.Blood results: Calcium 1.48 ...

The aim of the study was to investigate the effect of different coagulants and storage conditions on the stability of ACTH in plasma using the LIAISON-ACTH-Chemiluminescence Immunoassay.Design and methods: Sequential human blood samples were collected from healthy volunteers (n=83) between 8 and 10 pm into EDTA collection tubes (Sarstedt) and EDTA plus aprotinin tubes (Vacuette, Greiner Labortechnik), respectively. After collection the blood sampl...

Genome sequence projects in combination with advances in mass spectrometry and bioinformatics have created several new possibilities for comparative endocrinology. In 2001 we introduced the peptidomics technology that allows the identification of the complement of native (neuro)peptides in cells, tissues, organs and organisms. Especially when genome sequence information is available (D. melanogaster, A. mellifera, C. elegans…), neuropeptidomes were successfully id...

Background: In Belgium, a land with borderline iodine intake, the prevalence of goiter is 6 to 40%. This raises the question of an economically affordable treatment with few side effects. In euthyroid goiters, the effect of radioiodine on volume reduction is debated. Most data were described last century and do not take into account recent thyroid hormone measurements, newer ultrasonography techniques and changes in iodine supplementation. Doses administered in the past and el...

IntroductionInsulinoma-associated-1 (INSM1), encoded by the INSM1 gene is key factor in pancreatic endocrine, sympatho-adrenal and pan-neurogenic development. It has also been identified in multiple tumors of neuroendocrine origin but not thoroughly investigated as a potential neoplastic biomarker. The aim of the study was to evaluated INSM1 as a semiquantitative immunohistochemical biomarker as well as quantitative reverse transcriptase polymer...

Introduction: Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting about 5-10% of women. PCOS is characterized by hyperandrogenism, ovulatory disturbances, and polycystic ovaries. Many women with PCOS present with insulin resistance and central obesity and are at an increased risk for developing diabetes and cardiovascular disorders. Vitamin D deficiency is an important pathogenetic factor in the development of type II diabetes. The aim of the study was to...

Objective: Age- and gender-specific reference values for quality of life (QoL) measures are important to assess the impact of growth hormone deficiency (GHD). The objective of this study was to develop population-based data for the QoL-AGHDA instrument for Germany and to compare this data with corresponding Qol-AGHDA scores of the German KIMS cohort during growth hormone treatment, to investigate the association between the Qol-AGHDA score and the IGF-1 values in the German KI...