ESPE Abstracts

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...

Copy-number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. CNVs have been associated with different clinical phenotypes, such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been rep...

Background and aim: Epidemiologic studies have been shown that obesity increases the risk of renal disease and it impact on prognosis. In this study, we aimed to investigate both glomerular and tubular involvement in asymptomatic obese children and to investigate the association of metabolic-anthropometric parameters with renal parameters.Material-method: Children with BMI ≥95th percentile and diagnosed as primary obesity (n=43) were inclu...

Introduction: The association of precocious puberty and/or polycystic ovaries, delayed bone age and hypothyroidism is known as the Van Wyk and Grumbach syndrome (VWGS). Clinically this syndrome is a diagnostic challenge because hypothyroidism usually leads to pubertal and growth delay, whereas in case of VWGS hypothyroidism it leads to growth delay and precocious puberty. We report a boy with long-standing, untreated hypothyroidism who presented with precocious puberty.<p ...

Background: Adrenocortical tumor is very rare in the pediatric age group. These tumors may cause peripheric precocious puberty, Cushing’s syndrome or both. It is seen most commonly in children under 5 years of age and fourth decade. p53 mutation and other pathologies that may accompany should be investigated especially in young children.Objective and hypotheses: A 18-month-old boy was brought with pubarche and phallic enlargement, and was noticed 6 ...

Background: Wolcott–Rallison syndrome (WRS) is an autosomal recessive, multi-system disorder with early onset diabetes in infancy. It is associated with clinical features that show variability between WRS cases. Clinical data are still scarce.Patient data: A 9 year old girl followed-up due to diabetes and growth failure since 2 months of age from another centre presented with ketoacidosis and multi-organ failure. After resolution of her decompansate...

Background: HVDRR is characterised by hypocalcaemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is diagnosed easily especially associated with alopecia.Objective and hypotheses: Successful treatment requires reversal of hypocalcaemia and secondary hyperparathyroidism and is usually failed by high dose calcitriol but sometimes accomplished by administration of high doses calcium. Some patients need enteral or parenteral co...

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

Background: Laron syndrome, which is characterised with GH insensitivity, is caused by mutations of GH receptor (GHR). GHR, consisting of nine exons, is located on 5th chromosome. Typical findings of this syndrome are immature facial appearance, prominent forehead and eyes, depressed nasal bridge, low IGF1 and IGFBP3 levels which do not increase with IGF-generation test.Case report: A 4-year and 3-month old boy was admitted because of growth retardation....

Background: Experience with oral desamino-D-arginine-8-vasopressin lyophilisate (OLD) for central diabetes insipidus (CDI) in children with CNS malformations is limited.Objective and hypotheses: We aimed to assess the efficacy of oral use of OLD in children with CDI.Methods: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were eva...