ESPE Abstracts

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: 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: Aetiologic causes should be evaluated in patients with central diabetes insipidus. Inflammatory and malign diseases must be exclude.Objective and hypotheses: A 9-year-old girl suffered from polyuria and polydipsia was diagnosed CDI. Adenohypohysis height and infudibulum thickness were increased 8 and 9 mm respectively. Physical findings were consistent with Tanner stage 1, height SDS −0.48, and BMI 91 percentile. Tumor markers and adeno...

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...

Background: Ovarianleucodystrophies are one of the rarest leucodystrophies associated with primary ovarian failure. Patients may present with variable disease manifestations such as neurologic, psychiatric or ovarian failure. Disease onset may occur in infancy, adolescence or adulthood caused by mutation in the eukaryotic initiation factor 2B (eIF2B) which has a poor prognosis.Objective and hypotheses: Seventeen-year-old girl was brought with tremor, gai...

Background: Drug intoxication is one of the rare reasons of hyperinsulinism; it may occur not only accidentally but also deliberately.Objective and hypotheses: Herein, we report a case who presented with factitious hyperinsulinaemic hypoglycemia and diagnosed with Münchausen syndrome by proxy (MSBP) which is an uncommon condition of child abuse.Method: A 7-year-old girl was referred to our department due to hyperglycemic and h...

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...

Background: Data on the epidemiology of type 1 diabetes among children in Turkey are limited.Objective and hypotheses: The aim of this study was to report, for the first time, the incidence and prevalence of childhood type 1 diabetes in Turkey using a nationwide registry.Method: Information on birth date, city of birth, diagnosis date and gender of all type 1 diabetes patients aged less than 18 years were obtained from the Turkish ...

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

Background: Turner syndrome is one of the most common chromosomal disorders and is seen in 1:2500 female live births. The disease manifests with various clinical features and can be classified according to karyotype as monosomy, mosaicism, numeric, and structural abnormalities.Objective and hypotheses: Patients with Turner syndrome have complicated with various manifestations congenital or acquired. In this study we aimed to emphasise the importance of a...