ESPE Abstracts

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

Background: Papillary thyroid cancer (PTC) constitutes more than 90% of the thyroid cancer in children. PTC behaves differently in prepubertal children than in pubertal children and between children and adults. BRAF gene activating mutations lead to PTC by creating aberrant activation. The most common mutation is BRAFV600E.Objective and hypotheses: To evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal st...

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

Background: Type 1 diabetes (T1D) is characterized by chronic hyperglycemia and microvascular complications like retinopathy, nephropathy, and neuropathy in long term. Nailfold video capillaroscopy (NVC) is a non-invasive method used to examine the microcirculation in the skin. In this study, we aimed to evaluate the microvascular structure in T1D with NVC, observe capillaroscopic alterations, and reveal the relationship of capillaroscopic abnormalities with g...

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

Backround: Cases diagnosed with congenital hypothyroidism are considered to be at risk of thyroid nodule formation and subsequent thyroid carcinoma due to TSH overstimulation. Few cases has been reported hitherto. We are presenting two siblings diagnosed with congenital hypothyroidism due to dyshormogenesis who developed thyroid papillary carcinoma during follow up.Case presentation: Case 1 was born at term as the first ...

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

Background: In several studies it has been shown that BMI influences the timing of puberty, mostly in girls, but has not been a consistent finding in boys.Objective and hypotheses: To investigate the association between BMI and timing of pubertal onset in a population based sample of Turkish boys.Method: Data on growth and pubertal development were collected by biannual visits to six primary and secondary level schools in Istanbul ...