ESPE Abstracts

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...

Background: Prevalence of obesity has been rising throughout the world. Dyslipidemia, hypertension, insulin resistance, and type 2 diabetes mellitus (DMT2) (metabolic syndrome) are frequently observed serious complications of obesity. The primary approach in the treatment of metabolic syndrome is improving insulin resistance. Metformin is considered as an option for treatment in children with insulin resistance. During the last decade, numerous studies have been published demo...

Background: It has been reported that there is a relationship between circulating leptin and sex steroid hormones and leptin is able to stimulate estrogen secretion by increasing aromatase activity in adipose stromal cells and breast tissue. Leptin receptors have been also shown in mammary epitheleal cells and it has been suggested that leptin is involved in the control of the proliferation of both normal and malignant breast cells.Objective and hypothes...

Background: We aimed to investigate the differences of serum leptin, gonadotropin hormones levels on GnRH stimulation test, and pelvic ultrasound (US) findings between girls with idiopathic central precocious puberty (ICPP) and premature telarche (PT). Additionally, we aimed to determine correlations between leptin and other parameters.Method: Thirty-nine girls who had the breast budding before the age of 8 years and 19 healthy age-matched pre-pubertal g...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

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: Close monitoring of growth is vital when following children with achondroplasia yet existing growth curves suffer from a simple chart format and their clinical use is therefore limited. Also, references for body proportions; i.e. sitting height, relative sitting height and arm span, are lacking.Objective and hypotheses: The aim of this study was to construct age-specific growth curves for height, weight, BMI, head circumference and body propo...

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...

Purpose: The purpose of this study was to assess the values of the mean platelet volume (MPV), a predictor of cardiovascular disease, in paediatric patients with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASD), in addition to healthy controls, to determine the risk of cardiovascular disease in these two disorder groups.Material and method: The study included a total of 79 patients aged 3–18 with ADHD (36 pati...

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects, even different functions of vitamin D has been studied by advocating that vitamin D should be classified as a neurosteroid. It has been long known that vitamin D deficiency, VDR dysfunction, hyperparathyroidism and hypervitaminosis are potential causes for sensorineural ...