hrp0092p2-216 | Multisystem Endocrine Disorders | ESPE2019

Hypothyroidism in a Two and a Half Year-Old Boy with an Angelman Syndrome (AS)

Janchevska Aleksandra , Bozinovski Georgi , Jordanova Olivera , Tasic Velibor , Gucev Zoran

Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te...

hrp0086rfc15.6 | Late Breaking | ESPE2016

Safety of GH in Paediatrics: The GeNeSIS Prospective Observational Study Experience between 1999 and 2015 (NCT01088412)

Blum Werner , Child Christopher , Chrousos George , Cummings Elisabeth , Deal Cheri , Hasegawa Tomonobu , Holterhus Paul-Martin , Jia Nan , Lawrence Sarah , Linglart Agnes , Loche Sandro , Maghnie Mohamad , Sanchez Jacobo Perez , Polak Michel , Predieri Barbara , Richter-Unruh Annette , Rosenfeld Ron , Tajima Toshihiro , Yeste Diego , Yorifuji Tohru

Background: Although GH’s safety profile since 1987 is good, concerns remain regarding cancer (CA) risk, and French SAGhE data indicated increased mortality and cerebrovascular disease (CVD) in certain GH-treated patients (pts).Objective and hypotheses: To evaluate key safety outcome incidence in GH-treated pts of all short stature diagnoses (dx) who participated in GeNeSIS (1999–2015, 30 countries).Methods: Pt history/ca...

hrp0098fc4.4 | Adrenals and HPA Axis 1 | ESPE2024

Crinecerfont, a Corticotropin-Releasing Factor Type 1 Receptor (CRF1) Antagonist, Reduced Excess Adrenal Androgens and Glucocorticoid Doses in Children and Adolescents with Classic Congenital Adrenal Hyperplasia: Results from CAHtalystTM Pediatric

Sarafoglou Kyriakie , S. Kim Mimi , Lodish Maya , I. Felner Eric , Martinerie Laetitia , J. Nokoff Natalie , Clemente Maria , Y. Fechner Patricia , G. Vogiatzi Maria , W. Speiser Phyllis , B.G. Rosales Gelliza , Roberts Eiry , S. Jeha George , Farber Robert , L. Chan Jean , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Introduction: Children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens. Supraphysiological GC doses are typically required, predisposing patients to GC-related comorbidities. In Phase 2 studies, participants with CAH who received crinecerfont, a novel oral CRF1 antagonist, experienced reduction of the adrenal a...

hrp0089p3-p043 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Low Level of Vitamin D in Children Increases the Risk of Bone Fractures

Nicolas Georges , Hoyek Fady , Assaf Elias , Abi Fares Georges , Akiki Simon

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

hrp0089p1-p131 | Fat, Metabolism and Obesity P1 | ESPE2018

The Importance of Universal Lipid Profile Screening in Two to Ten Years Old Lebanese Children

Nicolas Georges , Akiki Simon , Faddous Khalifeh Marie-Claude , Nawfal Georges , Bassil Naim , Matta Perla

Introduction: Dyslipidemia has been recognized as a risk factor for cardiovascular diseases. Studies showed that the development of atherosclerotic lesions begins in childhood and progresses throughout life. While the prevalence of dyslipidemia in adults has been reported to be 10 times higher in Lebanon, there is no available data on the prevalence of dyslipidemic children in Lebanon.Objectives: This study was conducted to check if a protocol for univer...

hrp0092p1-425 | Thyroid (2) | ESPE2019

Maternally Inherited Resistance to Thyroid Hormones with Discordant Postnatal Phenotypes in Two Infant Brothers

Cavin Rosalie , Chevalier Claudia , Van Vliet Guy , Deladoëy Johnny

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

hrp0086p2-p174 | Bone & Mineral Metabolism P2 | ESPE2016

Management of Hypoparathyroidism: Follow-Up of 20 Patients

Darcan Sukran , Ozcan Nurhan , Ozen Samim , Goksen Damla

Background: Hypoparathyroidism is a rare disease characterized by inadequate parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia. Hypoparathyroidism can be transient, inherited, or acquired, and is caused by inability to synthesize or secrete PTH, abnormal parathyroid gland development, destruction of parathyroid tissue, or peripheral resistance to PTH.Methods: Medical records from 20 children and adolescents diagnosed with hypopar...

hrp0082p3-d2-685 | Bone (1) | ESPE2014

Autosomal-Dominant Hypocalcaemia, New Clinical Features

Gea Isabel Leiva , Fuentes-Bolanos Noemi Auxiliadora , Munoz-Garach Araceli , Gonzalez Luis Castano , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...

hrp0086p1-p338 | Gonads & DSD P1 | ESPE2016

Primary Ovarian Insufficiency in Childhood Cancer Survivors: A Report from the St Jude Lifetime Cohort (SJLIFE)

Chemaitilly Wassim , Li Zhenghong , Krasin Matthew , Wilson Carmen , Green Daniel , Klosky James , Barnes Nicole , Clark Karen , Frenandez-Pineda Israel , Metzger Monika , Ching-Hon Pui , Kirsten Ness , Kumar Srivastava Deo , Robison Leslie , Hudson Melissa , Sklar Charles , Yasui Yutaka

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

hrp0082p3-d1-816 | Growth | ESPE2014

The Level and Conformation of Blood Plasma Carotenoids in Girls with Turner Syndrome After 1 Year of GH Therapy

Pankratova Maria , Faassen Maria , Kovalenko Svetlana , Yusipovich Alexander , Baizhumanov Adil , Shiryaeva Tatyana , Maksimov Georgy

Background: The concentration and conformation of carotenoids and blood plasma in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The level and conformation of blood plasma carotenoids could be used as markers of overall condition of patients. The obtained data was compared with the parameters of antioxidant status before and after 1 year of GH therapy.Method: 12 prepubertal girls (median 13.2 years) with TS...