ESPE Abstracts

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. ...

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

Background: Polycystic ovary syndrome (PCOS) is a common endocrinological disorder of unclear etiopathogenesis characterized by hormonal and reproductive abnormalities which may coexist with metabolic disturbances.Objective and hypotheses: To investigate the role of endocrine disruptor bisphenol A (BPA) in etiopathogenesis of PCOS in adolescent girls. Additionally, we wished to investigate the relationship between BPA and metabolic parameters, insulin re...

Background: Polycystic ovary syndrome (PCOS), characterized by hyperandrojenemia, anovulatory periods and polycystic ovaries, is a disorder in which metabolic and reproductive abnormalities overlap. The etiopathogenesis is currently unclarified. Besides the evidence of genetic causes, environmental factors are considered to be involved in development of phenotype. Phthalates are widely used industrial chemicals and have several known untoward effects on human reproductive heal...

Background: Recent studies have shown a rising trend in pediatric obesity. However, studies dealing with the ultimate metabolic consequences of pediatric obesity and the means of accurately predicting these consequences are limited.Objective and hypotheses: To study the utility of WHtR as a marker of insulin resistance. To validate the presently used cutoffs (≧0.5) and validate its utility in populations studies.Method: 96 c...

Background: Euthyroid sick syndrome (ESS), also known as non-thyroidal illness or low T3 syndrome, is defined as low T3, low/normal T4 and inability of rise in TSH due to extrathyroidal diseases. Any condition resulting stress such as infectious diseases, sepsis, metabolic disorders and severe malnutrition can associate to ESS. Patients presented with type 1 diabetes mellitus (T1DM) are usually being screened for other autoimmune diseases inclu...

Background: Neonatal hypoglycaemia is an emergency condition requiring immediate treatment to prevent serious outcomes. Today blood glucose meter is a current methods for detecting blood glucose in health centre of our country.Objective and hypotheses: To determine the accuracy of blood glucose meter in comparison to laboratory method in detecting neonatal hypoglycaemia.Method: This cross-sectional study was conducted in the neonat...

A 7 year old girl presented with breast development, mood changes and rapid growth spurt from 6.5 years. Clinically she was tall for her family and had Tanner stage 2 breast development and pubic hair. Bone age was 3 years advanced and pelvic ultrasound demonstrated globular anteverted uterus with endometrial lining and enlargement of the ovaries with follicles. LHRH test confirmed central precocious puberty with peak LH 44mIU/ml and FSH 19mIU/ml, with baseline estradiol of 92...

In children, autoimmune thyroiditis is often diagnosed with signs and symptoms such as goiter, short stature, and constipation. Delayed diagnosis of hypothyroidism may result in atypical signs and symptoms at presentation, depending on the severity of hypothyroidism. Von Willebrand disease (vWD) is the most common bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF). Acquired vWD (avWD) is a disorder characterized by low levels ...

Objectives: We describe 5 pedigrees with a novel phenotype including GHD associated with primary ovarian insufficiency (POI) and investigate the underlying molecular basis.Patients and Methods: 6 Turkish patients (5F, 1M) born to 5 consanguineous pedigrees with severe GHD were identified. All females had POI; the male had normal puberty. All had severe postnatal growth retardation (height -4.4 to -8.9 SDS at presentation...