ESPE Abstracts

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

Background: Hyponatremia is an electrolyte disorder, that may lead to severe complications such as rhabdomyolysis, seizures, coma, and death. Clinicians do take hyponatremia seriously. However sometimes clinicians should be careful in interpreting the low laboratory sodium level as it does not necessarily reflect the actual natremic status especially when the patient is euvolemic and having normal serum osmolality, for which pseudohyponatremia should be consid...

Background and Aims: In patients with congenital hyperinsulinism (CHI), recurrent hypoglycaemia can lead to longstanding neurological impairments. At present, glycaemic monitoring is with infrequent fingerprick tests; a practice which can miss hypoglycaemic episodes between tests. Continuous glucose monitoring (CGM) is a promising alternative method which has the utility to identify risk and patterns of hypoglycaemia. Although CGM is well established in type 1...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

Background: One of the speculated causes of the decreasing age of onset of type 1 diabetes is the increase in body weight in children. This so-called accelerator hypothesis is, however, controversial. The aim of the study was to test whether younger age of type 1 diabetes onset is associated with higher BMI-SDS at the time of diagnosis.Methods: Retrospective data analysis from medical records of all patients und...

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

Background: The link between obesity and dysregulation of adipocytokines, inflammatory cytokines, and oxidative status has been found to underline the pathogenesis of obesity-related complications, such as cardiovascular disease and type 2 diabetes.Objective and hypotheses: The objectives were i) to evaluate the effect of a group-based lifestyle modification program on adipocytokines, inflammatory cytokines, oxidative status, and brachial-ankle pulse wav...