ESPE Abstracts

Background/Objective: The olfactory bulb (OB) and pubertal development have a close relationship as they share a common ontogenetic origin. The aim of this study is to analyze the potential relationship between the precocious puberty in girls as a sign of early pubertal timing and their OB volume as an indicator of its functional activity.Design: In the study group (n=125), OB volume, pituitary height, body ...

Objective: Congenital hypothyroidism; currently, it is one of the most common causes of preventable mental retardation in children. Thyroid dysgenesis, thyroid hormone production and efficacy disorders or temporary hypothyroidism can be seen with the tables. In this study; The aim of this study was to evaluate the etiology and prognosis of congenital hypothyroid patients guided by national screening and neonatal centers. In this way; Our aim is to produce the ...

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...

Objective: The clinical, laboratory and prognostic findings of the patients diagnosed with Kowarski Syndrome (biologically inactive growth hormone) were evaluated between February 2009 and February 2019 in order to contribute to literature.Materals and Methods: 110 cases diagnosed with Kowarski syndrome between February 2009 and February 2019 were evaluated retrospectively. 97 cases continued to work. 92 cases at least one year, 62 cases...

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare pediatric neuroendocrine tumors. Data on the diagnosis, treatment and follow-up of PPGL in children are limited and lack standardization. Furthermore, variations in access to diagnostic and therapeutic resources across centers contribute to inconsistencies in clinical management.Aim: To identify variations in the clinical management of paediatric PPGL with...