ESPE Abstracts

Background: The growth process that transforms a newborn into an adult implies that there is not only an increase in height but above all a constant change in body proportions. Knowledge of the body proportions gives insight into the natural process of maturation and any disturbance can be used as a diagnostic tool.Objective and hypotheses: Manual measurement of body dimensions is a highly time-consuming procedure requiring a variety of measurement tools...

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...

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: 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...