ESPE Abstracts

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

Introduction: 5-Hydroxymethylfurfural (HMF) is formed when sugars like glucose and fructose are heated in the presence of amino acids. HMF is naturally present in many foods and we are exposed to HMF in daily life. There are conflicting data on potential genotoxic, mutagenic, carcinogenic, DNA-damaging, organotoxic and enzyme inhibitory effects of HMF and its metabolites. We aimed to investigate toxic effects of HMF on reproductive system in peripubertal rats....

Background: In adult studies, serum uric acid level (SUA) has been shown to be associated with cardiometabolic anomalies of metabolic syndrome such as insulin resistance, hypertension, increased carotid intima thickness, and hyperuricemia is considered as an independent risk factor for atherosclerosis and cardiovascular disease. Early cardiovascular changes in obese children and studies on the relationship between metabolic syndrome and hyperuricemia are quite...

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: Inactivating mutations in the calcium sensing receptor (CASR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT).Objective and hypotheses: We report two cases with NSHPT together with their treatment and long-term follow-up.Method: Two cases were referred with severe hypercalcemia in the neonatal period....

The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm ...

Introduction: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseases in the pancreatic β–cell that impair insulin secreation. It mostly caused by heterozygous mutations in one of 11 different genes associated with β–cell function. The aim of this study is detection of the distribution of both known and novel point mutations of these genes in Turkish population.Pati...

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

Background: Proopiomelanocortin (POMC) deficiency is characterized by early-onset obesity, adrenal failure, red hair and pale skin. The first genetic mutation in the POMC gene was demonstrated in 1998. This disorder is rare, but has increased our insight into the important role of the leptin-melanocortin pathway in energy balance. POMC deficiency causes obesity due to the inadequate production of alpha and beta MSH from POMC, which normally activate the melanocortin 3 receptor...

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...