ESPE Abstracts

MODY (Maturity Onset Diabetes of Youth), mitochondrial diabetes, Wolfram syndrome, neonatal diabetes and the group of special syndromes seen due to gene defects that cause insulin resistance are called monogenic diabetes. MODY is an autosomal dominant form of diabetes with a relatively young onset. It constitutes 2-5% of all diabetes cases. The presence of more than one affected family member in extended families has facilitated studies of this type of diabetes. In monogenic d...

Background: Although adequate hydration is recommended for healthy nutrition, the link between less water consumption and obesity is not exactly known. It was demonstrated that less hydrated adults had a higher body mass index (BMI). Data in children are rather limited. Our aim was to compare the hydration status between obese and non-obese children.Subjects and methods: Children aged between 7 and 18 years who had a BMI over 2 standard deviation score (...

Background: Idiopathic premature adrenarche (PA) in girls refers to the presence of androgenic signs before the age of 8 years in the absence of thelarche. Increased adrenal androgens lead to changes in body composition and transient growth acceleration without effecting final height. Although the association between PA and some components of the metabolic syndrome is well known, total body fat and body composition analysis are not widely studied.Subject...

Background: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene can produce LCH. In this poster, we present three siblings with LCH based on the clinical and laboratory findings and the molecular diagnosis.Cases: A seven-year-old child was brought to our hospita...

Objective: Autoimmunity of the adrenal gland, also known as Addison’s disease, is characterised by cell mediated immune destruction of the adrenal cortex. We present a child with Addison’s disease who has severe hyponatraemia and normokalemia, which led to an inappropriately low index of suspicion initially at presentation.Case: A 12-year-old boy diagnosed with adrenal deficiency was admitted to hospital with 2 weeks of vomiting, fatigue and we...

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

Objective: Type 0 glycogen storage disease (GSD0) is caused by deficiency of the hepatic isoform of glycogen synthase. Growth hormone deficiency in this disorder has not been reported.Case: A two-year old girl who had suffered from occasional morning convulsions was admitted to our clinic. Her length and body weight were measured as 80 cm (−2.4 S.D.) and 11.3 kg (−1.3 SD), respectively. Physical examination was unremarkable. Me...

Background: Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function. DBH deficiency is a congenital disorder; however, the diagnosis is not generally recognized until late childhood. In this report, we present a case with DBH deficiency leading to growth hormone deficiency.Case: A ten year old girl who has b...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent and profound hypoglycemia in infants. There are two distinct histologic forms of CHI, diffuse and focal. The distinction between these forms is important in patients who fail medical therapy since surgical strategies may vary. Focal lesions occur due to paternally inherited recessive mutation in ABCC8 or KCJN11 genes with somatic loss of the maternal 11p15 region (paternal uniparental disomy). ...

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...