Endocrine Abstracts

Introduction: Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. In PWS, up to 3% of patients die every year. In half of the patients, the cause of death is obesity related and / or of cardiovascular origin. Obesity is caused by hyperphagia combined with a low energy expenditure. Untreated hormone deficiencies like hypogonadism and hypothyroidism can cause low muscle...

Medical treatment of acromegaly is based on either suppressing pituitary GH secretion or inhibiting GH action by preventing interaction with its receptor in order to suppress the elevated levels of IGF1. AZP-3813 is a 16-amino acid, bicyclic peptide antagonist of the GH receptor (GHR) derived from peptide sequences discovered using a unique, cell-free in vitro transcription-translation system screened against the human GHR, and that was optimized by rational design to increase...

Background: A common request at an endocrine outpatient clinic is to rule out acromegaly in a patient with acromegaloid features. It is important to do so, since the excessive excretion of growth hormone can result in various serious comorbidities. But when growth hormone-IGF-1 axis abnormalities are excluded, the physician faces a diagnostic dilemma. Here we provide a systematic approach to these patients.Methods: We present a case series of patients vi...

Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...

Purpose: Although quality of life (QoL) is improved in patients with acromegaly after disease control, QoL correlates only weakly with traditional biomarkers. Our objective is to investigate a potential relation between the new serum biomarker soluble Klotho (sKlotho), GH and insulin-like growth factor 1 (IGF-1) levels and QoL.Methods: In this prospective cohort study, we investigated 54 acromegaly patients biochemically well-controlled on combination tr...

Ghrelin circulates in two different forms. Acylated ghrelin (AG), a natural ligand of the GH Secretagogue receptor (GHS-R) type 1a, exerts several biologic central and peripheral actions including stimulation of GH secretion, but also modulation of insulin secretion, glucose and lipid metabolism. Unacylated ghrelin (UAG), despite unable to bind the GHS-R1a, is biologically active showing some influence in vitro and in vivo on glucose and lipid metabolism likely m...

Cortistatin (CST), a neuropeptide with high structural homology with somatostatin (SS), binds all SS receptor (SS-R) subtypes but, unlike SS, also shows high binding affinity to ghrelin (GRLN) receptor (GRLN-R). In humans CST exerts the same endocrine activities of SS, suggesting that the activation of the SS-R might mask the potential interaction with the GRLN system.CST-8, a synthetic CST-analogue devoid of any binding affinity to SS-R but capable to b...

Background: Turner syndrome (TS) is a rare genetic developmental disorder characterized by gonadal dysfunction, short stature and heart defects, among others. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, but it rarely solves the problem. To prevent the personal and financial burden of unnecessary diagnostic procedures, it is crucial to understand fatig...