IMPE Abstracts

Introduction: Children classified as idiopathic short stature (ISS) may have a monogenic cause that can explain their growth disorder. In this context, genetic tests emerge as a new diagnostic tool. Objectives: To determine the usefulness of WES for the genetic investigation of children with ISS.Patients and Methods: We sequentially enrolled 95 children with ISS without previous genetic testing, except for karyotyping fo...

Mechanisms underlying long-term sustained weight loss and glycemic normalization after obesity surgery involves changes in gut hormone levels, including glucagon-like peptide 1 (GLP-1) and peptide YY (PYY). Designing dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments co...

Background: The central melanocortin system is involved in metabolic control, receiving, and integrating metabolic signals, such as leptin. Biallelic mutations in several genes of this pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of the melanocortin system contribute to the development of obesity is poorly explored.Objectives: To explore the...

Background: Healthy living, as well as treatment of overweight and obesity, includes a trend towards personalized diets. To better design these diets, predicting an individual’s metabolic response to specific nutrients is necessary and to do so we must understand how nutrients are perceived by metabolic circuits and to identify the signals involved. Moreover, as males and females respond differently to an obesogenic environment, how energy perception dif...

Background: Perinatal stress, fetal growth restriction (FGR) or being small for gestational age (SGA) poses a high risk for neonatal hypoglycemia. The exact pathomechanism is unknown. In an animal model, increased levels of catecholamines were found in FGR sheep, causing β-cell adaptation with suppressed intrauterine insulin secretion, subsequently resulting in a hyper-responsive insulin secretion once the adrenergic stimulus subsides, e.g. after birth. W...

Constitutional delay of puberty (CDP) and congenital central hypogonadism (CH) show great overlap in clinical features and in gonadotrophin and testosterone serum concentrations in boys. The gold standard to distinguish both entities relies on the assessment of pubertal stage beyond 18 years of age. The long lasting insufficient FSH activity in boys with congenital CH may result in lower AMH and inhibin B serum concentrations compared with boys with CDP....

Background: Translocations involving the X and Y chromosome are rare in humans. Here we describe two cases diagnosed during the investigation of short stature. Case 1: She was born at 38 gestational weeks (GW), with birth weight (BW) SDS -1.5 and birth length (BL) SDS -2.7. At the first assessment, she had a chronological age (CA) of 11.3ys, a height SDS of -2.2, a sitting height-to-height SDS of 4.6, and Madelung´s deformity. The height SDS of her mothe...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR) gene, is characterized by low parathyroid hormone (PTH), hypocalcemia, hypercalciuria, hyperphosphatemia, and hypomagnesemia. Patients usually present in childhood, at a median age of 4y, often with severe symptoms of hypocalcemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria and can lead to renal morbidity. Calcilytics that ac...

Introduction: Haematological malignancies represent the most frequent childhood cancer. Little is known about small ovarian follicle function at diagnosis in girls with acute lymphoblastic leukaemia (ALL), acute myeloid leukaemia (AML) or non-Hodgkin lymphoma (NHL). AMH is a useful marker of small follicles.Aim: To determine small ovarian follicle status at diagnosis and after 3 months of chemotherapy in girls and adoles...