ESPE Abstracts

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

Objective and hypotheses: To establish clinical, laboratory peculiarities of manifestation, short-term effects of performance of hormonotherapy children with CACH.Method: We examined 32 children with CACH (29 children – with salt-losing form (SLF) (boys/girls=18/11), 3 – virile form (VF) (boy/girls=1/2)) in onset and after 1 year of therapy. Weight and growth dynamics, parameters of potassium (K), sodium (Na), glucose, adrenocorticotropic hormo...

Background: Tubular immaturity, responsible for sodium wasting, is critical during the neonatal period, particularly in preterm neonates. This relates to partial renal aldosterone resistance (Martinerie, Ped Res 2009), coincident with low tubular expression of the mineralocorticoid receptor in newborns (Martinerie, Endocrinology 2009).Objective and methods: Our clinical trial (NCT01176162) aimed to assess aldosterone resistance in neona...

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

Background: Congenital adiptical diabetes insipidus is rare condition in infancy. Immediate diagnosis and treatment is required to ensure normal development.Case report: A boy, from the 2nd pregnancy, 1st term delivery was born with weight 4480 g. Bottle feeding from the 1st months. Weight at 1st months – 4500 g, at 2nd – 5000 g. Until the first 2 months mother complained on child’s apathia, feeding problems, vomiting, weight stagnation. A...

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...