hrp0082p3-d2-686 | Bone (1) | ESPE2014

I.V. Zolendronic Acid: Experience of Treatment of Children with Osteogenesis Imperfecta in Indonesia

Pulungan A , Zacharin M , Armstrong K , Soesanti F , Pramesti D L

Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.<p class...

hrp0084p3-1234 | Turner | ESPE2015

Cardiovascular Assessment in Turner Syndrome: Current Practice in the United Kingdom

Mason A , Smyth A , Ahmed S F , Wong S C

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

hrp0084p3-637 | Autoimmune | ESPE2015

About a Case of Basedow-Graves’ Disease in a Infant

Bassaid M A , Bouriche K , Senouci D , Mazari W , Kaddour F Hadj , Ghellai F , Bendjelloul A , Medjahdi A , Berber N , Bendeddouche A S

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

hrp0094p2-452 | Thyroid | ESPE2021

Complications after pediatric thyroidectomy: lymph node dissection is a risk factor for permanent hypocalcemia

van Rooijen Jesse J. , Paul van Trotsenburg A.S. , Zwaveling-Soonawala Nitash , Nieveen van Dijkum Els J.M. , Engelsman Anton F. , Derikx Joep P.M. , Mooij Christiaan F.

Background: Thyroidectomy is a definitive treatment option in some benign thyroid disorders and the definitive treatment option for thyroid cancer. As postoperative mortality is extremely rare data on postoperative complications and long-term health consequences are important.Objective: To evaluate the frequencies of short- and long-term complications, and their risk factors in pediatric patients (0-18 years) who underwent a thyroidectomy in a tertiary c...

hrp0092p2-20 | Adrenals and HPA Axis | ESPE2019

Polydipsia, Hyponatremia and a Biochemical Profile of Aldosterone Synthase Deficiency

Reinauer Christina , Förtsch Katharina , Meissner Thomas , Mayatepek Ertan , Holterhus Paul Martin , Kummer Sebastian

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

hrp0089p2-p308 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Inactivating Compound Heterozygous Mutation in KISS1R/GPR54: Cases of Three Siblings

Nalbantoglu Ozlem , Arslan Gulcin , Koprulu Ozge , Hazan Fılız , Gursoy Semra , Ozkan Behzat

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

hrp0086fc8.5 | Growth: Clinical | ESPE2016

Longitudinal Study on Body Composition, Insulin Sensitivity and β-cell Function in SGA Adults from Stop of Long-term GH Treatment until 5 Years after Stop

van der Steen Manouk , Kerkhof Gerthe F. , Hokken-Koelega Anita C.S.

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

hrp0086rfc4.5 | Pathophysiology of Obesity | ESPE2016

Steroid Metabolomic Signature of Liver Disease in Childhood Obesity

Gawlik Aneta , Shmoish Michael , Hartmann Michaela F. , Malecka-Tendera Ewa , Wudy Stefan A. , Hochberg Ze'ev

Background: Analysis of steroids by gas chromatography-mass spectrometry (GC-MS) defines a subject’s steroidal fingerprint. Here, we compare the steroidal fingerprints of obese children with or without liver disease to identify the ‘steroid metabolomic signature’ of childhood non-alcoholic fatty liver disease.Methods: Urinary samples of 85 children (43 girls) age 8.5–18.0 with obesity (BMI >97%) were quantified for 31 steroid meta...

hrp0086p2-p56 | Adrenal P2 | ESPE2016

The Effect of Anti-TNF on the Metabolism of Adrenal Hormones; A Steroid Metabolomic Approach

Keinan Ariel , Hartmann Michaela F. , Butbul Yonatan , Wudy Stefan A. , Tiosano Dov

Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease seen in children. The systemic features of JIA are mediated by cytokine products of an activated immune system. Recent studies showed that the median level of urine cortisol in active JIA patients is significantly lower than remission period and control groups.Objective and hypotheses: One of the najor drugs in JIA is TNFα blocker (Enbrel). The aim of the study was ...

hrp0086p1-p112 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Bone Health and Body Composition in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , Shepherd S , McMillan M , Ahmed S F , Shaikh M G

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...