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 ...

Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin–neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.Objective and hypotheses: To determine clinical and molecular characteristics of patients with familial central DI from two different families.Method: The diagnosi...

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...

Background: Endocrine disruptors cause harmful effects to human body through various exposure routes. These chemicals mainly appear to interfere with the endocrine or hormone systems. Bisphenol A (BPA) is known as an endocrine disruptor with an estrogenic effect and it is supposed that it may have a role on development of precocious puberty (PP). Kisspeptin, a hypothalamic peptide, is a neuromodulator of GnRH and it has a big role on regulation of the onset of puberty.<p c...

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...

Aim: The onset of the infancy-childhood growth spurt (IC spurt) is identical with the onset of the childhood component of the infancy-childhood-puberty growth model. The aim of this study was to determine the timing of IC spurt and to investigate the factors affecting it in healthy children.Materials and Methods: The files of 231 healthy children who were followed up regularly (at 0, 2, 4, 6, 12, 15, 18, 24, 30 and 36 months) at the Ista...