ESPE Abstracts

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

Introduction: In cases of precocious puberty, an important factor in making treatment decisions is when adult height estimates based on bone age (BA) determination are behind midparental height. In Turkey, clinicians often use the Greulich Pyle (GP) atlas to determine BA, which can lead to significant differences between assessors. The aim of this study was to compare estimated adult height (EAH) calculations based on BA determined by the automated BoneXpert m...

Background/aims: AMH levels of mini puberty are higher than prepubertal period. In this study we investigated AMH levels in infants with premature thelarche who are presumed to have exaggerated mini puberty due to inadequate/late suppression of pubertal activation.Methods: Fifty five female infants between 3 months and 3 years of age with premature thelarche were enrolled in the study and 49 healthy girls in the same age group were included in the study....

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...

Background/Aim: Prediction of metabolic syndrome (Mets) plays important role in cardiovascular disease risk prevention. Although Mets is relatively common in children with T1DM, diagnosis and prediction are ignored. Visceral Adiposity Index VAI) has been defined as a new cardiometabolic risk marker reflecting abdominal fat distribution and dyslipidemia. The aim of the study is to reveal the relationship between Mets and components of VAI in patients with T1DM....

Context: Olfactory bulb (OB) and eyeball size change depending on age and puberty. There is well-established trade-off between sensory structures of brain such as eye and olfactory bulb.Objective: The aim of this study is to analyze the potential reciprocal changes between OB and eyeball volumes (EV) in girls with precocious puberty (PP), as a sign of early pubertal onset.Design: A...

Introduction: Plasma triglyceride (TG) is formed by an exogenous pathway taken from food and by an endogenous pathway produced from the liver. Primer hypertriglyceridemia occurs by genetic reasons. Higher TG levels occurs in lipoprotein lipase (LPL), ApoC2, ApoA5 gene defects. Secondary hypertriglyceridemia is caused by obesity, insulin resistance, alcohol and some drugs. In that study, we evaluated 10 patients with primer hypertriglyceridemia regards to clini...

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

Aim: To evaluate thyroid function tests and affecting factors in twin and triplet newborns.Method: 655 newborns from 320 multiple gestations (305 twins/15 triplets) were evaluated retrospectively with respect to thyroid function tests (FT4, TSH). The effects of birth order, birth weight SDS, gestational age, maternal thyroid disease, gestational diabetes, assisted reproduction, dopamine were analysed.Results: Gestational age was 25...