ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Introduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after binding to the growth hormone receptor. STAT-5b deficiency, is characterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare dise...

Introduction: X-linked hypophosphatemia or XLH is a rare genetic disease, often revealed in children by rickets, growth failure, delayed walking, and leg bowing. Clinically the severity is reflected by leg deformities. The aim of our study was to assess the clinical and biochemical parameters correlated to the severity of XLH at the end of growth.Materiel and methods: Monocentric retrospective study of patients treated with phosphate supplements and vita...

Objective: Most recent evidence from conducted in human and animal studies suggests that vitamin D has a potential role in the physiology of reproductive function in both genders. We investigate the role of vitamin D in male and female gonadal function at mini-puberty period with particular emphasis on production of sex steroids and gonadal peptide hormones. Additionaly, this study evaluated serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradio...

Introduction: Growth retardation as clinical manifestation among children with acquired hypothyroidism is observed later in the course of the illness. Thyroid hormones along with insulin like growth factors (IGF) have important role in somatic and skeletal growth. Studies addressing role of IGF’s towards growth retardation in children with acquired hypothyroidism are limited.Objective: To evaluate effect of Insulin like growth factors in children wi...

Introduction: Congenital Hypothyroidism if not treated timely presents with growth & developmental delay. Thyroid hormones and Growth hormone- Insulin like growth factor 1 axis (GH-IGF-1) together are critical for somatic and skeletal growth. Hypothyroidism and derangement in this axis leads to profound growth retardation and delayed skeletal maturation. Limited studies suggest that thyroxine directly regulates IGF-1 independent of GH in congenital hypothyroidism.<p cl...

Background and aim: Epidemiologic studies have been shown that obesity increases the risk of renal disease and it impact on prognosis. In this study, we aimed to investigate both glomerular and tubular involvement in asymptomatic obese children and to investigate the association of metabolic-anthropometric parameters with renal parameters.Material-method: Children with BMI ≥95th percentile and diagnosed as primary obesity (n=43) were inclu...

Introduction: The association of precocious puberty and/or polycystic ovaries, delayed bone age and hypothyroidism is known as the Van Wyk and Grumbach syndrome (VWGS). Clinically this syndrome is a diagnostic challenge because hypothyroidism usually leads to pubertal and growth delay, whereas in case of VWGS hypothyroidism it leads to growth delay and precocious puberty. We report a boy with long-standing, untreated hypothyroidism who presented with precocious puberty.<p ...

Background: Strong association of early postnatal catchup growth in SGA with higher leptin levels and increased risk of insulin resistance has been described.Objective: To determine leptin levels in term small for gestational age (SGA) children at 15–18 months age and assess their relationship with postnatal catchup growth (CUG).Methods: Birth and current weight and length of 60 term SGA (<10thpercentile) childr...