ESPE Abstracts

Background: Nonclassical congenital adrenal hyperplasia (NCAH), which is generally presented with symptoms of androgen excess, is inherited autosomal recessive due to different kind of mutations in the CYP21A2. Recently, high frequency of copy number variations at CYP21A2 gene and predisposition of heterozygous duplicated CYP21A2 for de novo gene aberrations has been reported.Objective and hypotheses: To evaluate clini...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

Congenital hyperinsulinemia occurs due to inappropriate insulin secretion from beta cells of the pancreas. It is the most common cause of resistant and recurrent hypoglycemia in neonates and infants and the threatment is very difficult. Although the incidence is reported as 1/50000, it is seen more frequently in consanguineous countries. Patients may present with lethargy, nourishment, irritability and seizures. If it is not treated, severe hypoglycemia may result in severe ne...

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...

Aim: Quail egg (QE) consumption became popular among children for alleged health benefits. Based on our observation of premature thelarche (PT) in a few children who consumed QE, we investigated the relationship between QE and puberty by a clinical and an experimental studies.Method: In the clinical study, a questionaire was used to compare the frequency and amount of QE consumption (between 55 girls with PT (n ...

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Purpose: Therapeutic goals in the adolescent male with hypogonadotropic hypogonadism(HH) are virilization, optimal adult height, normal bone mass, body composition, psychosocial development, and fertility. Until recently, only testosterone was used to treat adolescent males with HH. However, this treatment did not cover all treatment goals and adverse effects on fertility were reported. Therefore, gonadotropin therapy can be used in addition to testosterone in...

Introduction: Graves’ Disease (GD) is autoimmune hyperthyroidism occurring mostly in adolescent girls. The main pathogenic role of the disease is attributed to TSH receptor antibodies (TRAb), which stimulate the thyroid gland to increase the production of the most active thyroid hormone- triiodothyronine (T3). High levels of TRAb and a large goitre size are commonly known as poor prognostic factors for the disease and are used to predict relapse.<p c...