ESPE Abstracts

Introduction: Subclinical hypothyroidism (SH) is reported up to 20% of obese population and thyroid hormone replacement in these individuals are controversial. In this study, we aimed to determine the effect of thyroid hormones on basal metabolic rate (BMR) in obesity and, thyroid hormone replacement on BMH and weight in obese patients with SH.Method: The study was conducted in 31 obese children (15 of them had subclinical hypothyroidism) admitted to our...

Achieving optimal metabolic control can be extremely challenging in some children and adolescents with T1DM. The adherence to multiple injections/day is among the leading causes of suboptimal control. Recently insulin degludec/aspart co-formulation (70%IDeg+30%IAsp: IDegAsp) has become available. Because of the longer-duration of IDeg, and retained individual pharmacokinetics of IDeg and IAsp, we wanted to test insulin IDegAsp's efficacy in our patients with po...

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...

Objective: Antley-Bixler syndrome Type 1 (ABS1) is a rare form of craniosynostosis characterized by multiple dysmorphic features, radio-humeral synostosis and urogenital abnormalities due to P450 oxidoreductase (POR) gene mutations. ABS is also associated with adrenal and gonadal failure which are sometimes underrecognized due to predominance of skeletal findings in various clinics. We report a female patient with very characteristic skeletal and facial features of AB...

Objectives: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions with immune dysfunction and neurologic involvement which is caused by mutations in ACP5 gene encoding tartrate resistant acid phosphatase 5. Here, we report a three year old girl presented with primary hypothyroidism, developmental delay and thrombocytopenia and diagnosed as SPENCDI.<p class="abstext"...

Objective: Congenital isolated thyrotropin (TSH) deficiency is a rare condition due to autosomal recessive defects in TSHβ, TBL1X, IGSF1, TRHR genes. There are a few patients described with TSHβ mutations to date. These patients display the typical manifestations of severe untreated congenital hypothyroidism. Most patients are unrecognized, even in newborns screening settings due to unelevated TSH levels, which results in severe growth fail...

Background: β-hCG secreting germ-cell tumors (β-hCG-ST) are rare causes of Peripheral precocious puberty (PPP) in boys and usually located in intracranial region. Liver, retroperitoneum, testis and mediastinal cavity are the other localizations reflecting embryonic germ cell sites.Objective and hypotheses: We present a patient with PPP due to elevated β-hCG levels, but extensive efforts to find the source of elevated β-hCG was unrevea...

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 ...