ESPE Abstracts

Background: Polyuria-polydipsia syndrome (PPS) is a common condition in children, and its etiology is not always easily elucidated. Although the water deprivation test remains the gold standard for diagnosis, its limitations necessitate the search for alternative diagnostic methods. Due to its stability, copeptin is a valuable current parameter that is considered more reliable than AVP measurement. This study aims to compare copeptin levels between patients wi...

Objective: As obesity rates rise among children, non-alcholic fatty liver disease (NAFLD) is becoming more prevalent. Although liver biopsy is considered the gold standard for diagnosing NAFLD, it is an invasive procedure and not practical for screening. Asprosin, a recently unveiled adipokine, is released in response to fasting. In this study, we aim ed to investigate the diagnostic value of asprosin for NAFLD in obese patients....

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting from a genetic defect in one of the enzymes involved in the synthesis of cortisol from cholesterol in the adrenal cortex. Although steroid hormone levels are used in the diagnosis and monitoring of CAH, not all steroid hormone levels can be measured by ELISA. Steroid hormone levels are measured using immunoassay and liquid chromatography-mass spectrometry (L...

Objective: We aimed to evaluate the relation between the peak growth hormone (GH) levels on provocative tests and response to recombinant human GH (rhGH) therapy in patients with GH deficiency (GHD).Methods: This was a cross-sectional, single-center, and retrospective study. A total of 518 patients who received rhGH therapy under the age of 16 in the Endocrinology Clinic of Akdeniz University Hospital between 1997 and 20...

Objective: We aimed to examine the auxological findings of the girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the Gonadotropin-releasing hormone analogs (GnRHa) treatment and to investigate the effect of related factors on the height gain of those patients.Methods: This study was designed as single-center, descriptive, cross-sectional retrospective study. A total of 43 patients who were di...

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

Objectives: Type 1 diabetes mellitus (DM) is an autoimmune disease caused by the destruction of pancreatic beta cells. The frequency of Type 1 DM is increasing, and the highest incidence rate is in children under 5 years of age. It is estimated that children under the age of five will develop approximately 70% of the cases under the age of 15, with an increased incidence.In our study, we aimed to evaluate the demographic, clinical an...

Introduction: A rare cause of diabetes mellitus is Wolfram Syndrome, which arises from mutations in wolframin gene found on chromosome 4. Optic nerve atrophy, diabetes insipidus, sensorineural deafness, psychiatric problems can accompany diabetes mellitus, so it can be also named as DIDMOAD syndrome. Hypergonadotrophic hypogonadism can be rarely observed in Wolfram syndrome. A case of novel homozygous mutation in the wolframin gene has been reported because of concomitant rare...

Introduction: The most common type of diabetes in childhood is type-1 diabetes. The group of diabetes called MODY (maturity-onset diabetes of the young) is rarer. Mutations that occur in glucokinase gene cause disruption in the perception of the resultant glucose level and, consequently, impaired insulin release, leading to the development of MODY-2. In this case, resulting hyperglycemia is usually at a mild, non-progressive level and does not require insulin therapy. For this...

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...