ESPE Abstracts

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...

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

Background: Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1, have also been implicated in TNDM.Objective and hypotheses: To describe clinical features and lab...

Hypophosphatasia (HPP), an inborn-error-of-metabolism, has broad-ranging severity caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase (TNSALP). HPP in children features premature loss of deciduous teeth often with impaired skeletal mineralization, poor growth, static myopathy, and compromised physical function. To date there are no approved treatments for HPP. Perinatal and infantile forms have very high morbidity and mortality and the j...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...