ESPE Abstracts

Background: Pycnodysostosis is an autosomal recessive disease characterized by short stature, osteosclerosis, increased bone fragility. In these patients maxillary and mandibular hypoplasia, flattening of the mandibular angle, long soft palate, narrow palate structure can lead to pharyngeal narrowing and obstructive sleep apnea syndrome (OSAS).Objective and hypotheses: Our aim was to evaluate sleep disordered breathing in children with pycnodysostosis.</...

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...

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...

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 ...

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

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: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...

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 ...