hrp0089p1-p162 | Growth & Syndromes P1 | ESPE2018

Comparing the Cumulative Dose of Growth Hormone Therapy Using Body Weight-Based Dosing Versus Body Surface Area-Based Dosing in Children with Turner Syndrome – Data from the ANSWER Study

Backeljauw Philippe , Geffner Mitchell , Ross Judith , Holot Natalia , Ostrow Vlady

Background and Objective: The American Norditropin Studies: Web-Enabled Research (ANSWER) Program is a long-term, US-based, non-interventional study designed to collect information on the effectiveness and safety of Norditropin® growth hormone (GH). From June 2002 to September 2016, 20,204 pediatric patients were enrolled by their treating physicians, including 1,003 patients with Turner syndrome (TS). This analysis compares cumulative GH doses when adjusting G...

hrp0086p2-p530 | Fat Metabolism and Obesity P2 | ESPE2016

Vascular Endothelial Growth Factor as The Predictor Microangiopathy in Obese and Diabetic Children

Ben-Skowronek Iwona , Kapczuk Iga , Stapor Natalia , Banecka Bozena

Background: Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and diabetes mellitus. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body.Objective and hypotheses: The...

hrp0086p2-p685 | Growth P2 | ESPE2016

Congenital Hypopituitarism and Giant Cell Hepatitis in a Two-Months-Old Boy

Skorodok Yulia , Arestova Anzhelika , Kazachenko Natalia , Mullachmetova Zuhra , Ivanov Dmitriy

Background: Congenital hypopituitarism (CH) in the neonate which manifests as the deficiency of one or more pituitary hormones can be presented by a highly variable phenotype. Either as isolated hypopituitarism or with associated developmental defects such as ocular, midline, and genital abnormalities. Mutations in genes encoding for a number of transcription factors have been described in a minority of patients with CH. This indicats that further genes remain to be identified...

hrp0084p2-324 | DSD | ESPE2015

DSD 46,XY and Serum Steroid Profile Ambiguity due to Combined 17-Beta Hydroxysteroid Dehydrogenase/21-Hydroxylase Deficiencies

Kuznetsova Elena , Ioutsi Vitaliy , Kolodkina Anna , Kalinchenko Natalia , Tiulpakov Anatoly

Background: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...

hrp0084p3-1128 | Pituitary | ESPE2015

Congenital Adiptical Diabetes Insipidus: A Clinical Case

Zagrebaeva Olga , Solntsava Anzhalika , Kniazkina Olga , Barash Olga , Kizevich Natalia

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...

hrp0084p3-1228 | Thyroid | ESPE2015

Sex and Age Differences in the Incidence of Thyroid Disease in Children with Obesity

Budreiko Olena , Shushlyapina Olena , Kosovtsova Ganna , Shlyachova Natalia , Nikitina Larisa

Background: Obesity in adults is closely associated with an increased prevalence of thyroid gland (TG) pathology, but thyropathy formation issues among children are not sufficiently studied.Objective and hypotheses: To determine the prevalence and structure of TG pathology in children with obesity by gender and degree of puberty.Method: In 121 patients 6–16 years old with obesity a thyropathy detection was conducted (diffuse n...

hrp0095fc3.4 | Early Life and Multisystem Endocrinology | ESPE2022

A common polymorphism in the human P450 reductase gene (POR) causes defective steroid and drug metabolism due to protein instability

Rojas Velazquez Maria Natalia , Noebauer Mathias , Pandey Amit V

Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...

hrp0089p1-p193 | Multisystem Endocrine Disorders P1 | ESPE2018

McCune-Albright-Syndrome: Clinical and Genetic Study in a Large Cohort of Pediatric Patients

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Kolodkina Anna , Zubkova Natalia , Vasiliev Evgeniy , Tiulpakov Anatoly , Peterkova Valentina

Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR...

hrp0082fclb1 | Late Breaking Abstracts | ESPE2014

Top Line Results of Once-Weekly, CTP-Modified Human GH (MOD-4023): Phase 2 Dose Finding Study in Children with GH Deficiency

Zadik Zvi , Rosenfeld Ron , Radziuk Klaudziya , Zelinska Nataliya , Malievsky Oleg , Iotova Violeta , Skorodok Julia , Koren Ronit , Amitzi Leanne , Hart Gili , Herskovitz Oren , Fima Eyal

Objective: GH replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) has been developed for once-weekly administration in GH deficient (GHD) adults and children. Pharmacokinetics (PK), pharmacodynamics, (PD) efficacy and safety analysis of weekly treatment with MOD-4023 in GHD naïve children was performed and compared to daily hGH.Design and metho...

hrp0084fc7.5 | Growth-promoting therapies | ESPE2015

12-Month Safety and Efficacy of a Weekly Long-Acting GH (MOD-4023) Compared to Daily Recombinant Human GH Therapy in Pre-Pubertal GH-Deficient Children; Phase 2 Study: Study CP-4-004 Summary

Zadik Zvi , Rosenfeld Ron , Radziuk Klaudziya , Zelinska Nataliya , Malievsky Oleg , Iotova Violeta , Skorodok Julia , Koren Ronit , Amitzi Leanne , Hershkovitz Oren , Hart Gili

Objective and hypotheses: To compare the PK/PD, safety, efficacy, and tolerability of three doses of once-weekly MOD-4023 to that of a daily recombinant human GH (rhGH) formulation in pre-pubertal children with growth failure due to GH deficiency (GHD).Method: The randomised, controlled phase 2 study was conducted in 53 pre-pubertal, hGH-naïve GHD children randomised to receive one of three MOD-4023 doses as a once-weekly s.c. injection (0.25, 0.48,...