Endocrine Abstracts

Background: The KISS1 gene, is a critical regulator of normal reproductive function. In humans, KISS1 deletion results in a failure to go through puberty while activating mutations result in central precocious puberty. Administration of kisspeptin induces ovulation in rodents and sheep. However chronic exposure to exogenous kisspeptin-54 leads to profound tachyphylaxis in women with hypothalamic amenorrhoea. It is not known whether exogenous kisspeptin can alter the m...

Background: Hypopituitarism after traumatic brain injury (TBI) is considered to be a prevalent condition, and may affect quality of life (QoL) and cognitive function. However, the prevalence of hypopituitarism differs considerably among reported studies due to differences in definitions, endocrine assessments of hypopituitarism, and confounding factors, like timing of evaluation and the severity of the trauma.Aim: To evaluate the prevalence of hypopituit...

The melanocortin-4-receptor (MC4R) plays an important role in body weight regulation. Mutations in the MC4R gene are the most common genetic cause for obesity. The most frequent Northern European mutation is Y35X, associated with D37V on the same allele. Furthermore, there are two variants with a relatively high frequency: V103I and S127L. In rare cases, we identified the variants V103I and S127L on the same allele. The occurrence of two variants on the same allele makes a fou...

Objectives: GH measurements during OGTT have profound effects on therapy and follow-up management of acromegaly. To minimize the discordance between immunoassays, it is recommended to calibrate them using 22 kDa-GH-preparation instead of the use of pituitary-derived calibrants. The aim of our study was to evaluate the between-method discrepancies in GH determinations by assays using different calibrants considering further confounders like age, gender, and BMI.<p class="ab...

Introduction: In the past 20 years, obesity has become a major health problem occurring as well in adults as in children. Beside environmental influences on body weight, the genetic background of a person plays an important role in body weight control. After the description of monogenetic mutations linked to obesity most current studies investigate polygenetic forms of obesity.Recent studies showed an association between two SNPs, located in the promoter...

Objective: The increasing incidence of obesity is a major health problem world-wide. So far, mutations were identified in genes encoding major contributors in energy homeostasis. With the exception of mutations in the melanocortin-4-receptor gene (MC4R) obesity-causing mutations are very rare. To date great efforts were undertaken to identify gene variants that contribute to polygenic obesity. The GIPR belongs to the large superfamily of G-protein coupled recepto...

Aims: To define the ultradian pattern of corticosterone secretion in the rat, how this may be altered in different physiological states and the relevance of these patterns to nuclear signalling in the hippocampus.Methods: Rats were cannulated and attached to our automated blood sampling system. Some rats had simultaneous intracranial microdialysis for free corticosterone in the hippocampus and other rats were adrenalectomised and corticosterone replaced ...

Objectives: Besides the measurement of IGF-1, GH suppression during OGTT to assess the biochemical status in acromegaly is recommended. However, as a consequence of the development of highly sensitive and specific GH assays a critical re-evaluation of the criteria for the diagnosis and follow-up management of acromegaly is mandatory. The aim of our study was to evaluate the between-method discrepancies in GH determinations by different immunoassays considering further confound...

Background: A metastatic mesenteric mass is a hallmark of small intestinal neuroendocrine tumours (SI-NETs). However, little is known about the evolution of a SI-NET-associated mesenteric mass over time.Methods: Retrospectively, 530 patients with proven SI-NET and ≥2 available CT-scans were assessed for clinical characteristics at diagnosis and the presence and growth of a mesenteric mass on every consecutive CT-scan until end of follow-up or resec...

Background: The age at adiposity rebound (AR), at which BMI begins to rise after infancy around the age of 5 years, is associated with obesity and metabolic alteration in later life. Given that polycystic ovary syndrome (PCOS) has strong metabolic components, early growth patterns could reveal predisposition for PCOS. Thus, we aimed to investigate the associations of growth trajectories from birth to puberty with PCOS diagnosis,vbody composition and hyperandrogenism later in a...