ESPE Abstracts

Background: Luteinizing hormone stimulating hormone (LHRH) test is the gold standard test in the diagnosis of puberty precocıous (PP). The basal levels of FSH (follicular stimulating hormone) and LH (luteinizing hormone) cannot be always reliable.Objective and hypotheses: To investigate the relation between the LHRH test and basal levels of FSH and LH.Method: Girls with puberty started before the age 8 are investigated. Eighty...

Background: 21-Hydroylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH) and resulted from CYP21 gene mutations. Genotype and phenotype are usually concordant. Homozygous intron 2 splice mutation (IVS2/IVS2) is frequently associated with severe enzyme deficit, and causes classical CAH. Here, we present genotype–phenotype discordant members of two different families with IVS2/IVS2 mutation.Family 1: First child of family ...

Background: The prevalence of autoimmune thyroid disease is higher in children with type 1 diabetes mellitus (T1DM).Objective and hypotheses: The aim of this study is to compare the frequency of autoimmune thyroiditis in children with T1DM according to the presence of diabetes autoantibodies.Method: This study included 533 (49% female) children with T1DM based on hospital records from a single center. Frequency of glutamic acid dec...

Objective and hypotheses: To answer the question of whether the age of diabetes onset is shifting to younger ages and whether the rate of DKA at presentation has changed over the 15 years in children with T1DM.Method: Patients with T1DM from a single center for Pediatric Endocrinology and Diabetes in Turkey since 1999 were included. In a period of 15 years, 517 patients (249 females) were divided into three groups due to the year of diabetes diagnosed (g...

Background: Aromatase inhibitors (AI) are being used in clinical trials in children related to peripheral precocious puberty, and idiopathic short stature to improve height prognosis.Case report: A 2 11/12 year-old boy was referred to our center for evaluation of penile enlargement and pubic hair development. Physical examination revealed a well-developed muscular boy with a body weight of 22 kg (>97p), height of 110.1 cm (>97p), with ...

Background: Pituitary adenomas in childhood are 2–6% of all surgically treated pituitary adenomas at all ages. It has been estimated that TSH secretion is rare (<1% of all pituitary adenomas). Therefore, TSH secreting adenoma is very rare in childhood. Here we present the youngest patient with TSH secreting adenoma.Case: A 7-year-old boy was referred to our clinic with thyroid dysfunction by the psychiatry clinic, during his evaluation of hypera...

Background: Papillary thyroid cancer (PTC) is the most common endocrine malignancy in children. PTC shows more aggressive progress in children than in adults in respect to local and distant metastases. Here we presented a PTC case with primary pulmonary symptoms and pulmonary metastasis.Case: A 15.5-year-old male patient presented to the clinics with cyanosis and respiratory difficulty for the last 2 years. He had dyspnea, central cyanosis, clubbing, and...

Background: Hypothalamic obesity is the most flagitious endocrinologic problem following surgical intervention for childhood brain tumors. Thus, recognition of this condition and identification of risk factors for mortality is important.Objective and hypotheses: In this study, we have shared our single center experience in obesity-related mortality in children with hypothalamic obesity.Method: We retrospectively analyzed 20 patient...

Background: Studies evaluating the gain in final height in patients with idiopathic central precocious puberty (ICPP) report variable outcomes and mostly lack comparison with untreated controls.Objective and hypotheses: To compare the final height of ICPP patients treated with GnRH analog with and untreated control group.Method: 48 girls with ICPP treated with GnRH analog and 52 untreated girls with ICCP (due to late referral or re...

Background: Friedreich’s ataxia (FA) is an autosomal recessive neurodegenerative disorder characterised by progressive ataxia with limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, decreased vibratory sense and proprioception. The most common molecular abnormality is a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. Patients with FA are at risk of getting increased blood sugar levels, or ...