hrp0086p1-p743 | Pituitary and Neuroendocrinology P1 | ESPE2016

Proton Therapy as a Promising Therapeutic Option for Children with Aggressive and Uncontrolled Pituitary Macro Adenoma: A Case Report

Petit Isabelle Oliver , Bertozzi Anne-Isabelle , Boetto Sergio , Sevely Annick , Tauber Maithe , Caron Philippe , Alapetite Claire

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

hrp0084p2-300 | Diabetes | ESPE2015

Non-Immune Diabetes Mellitus and Neurodegeneration: Two Distinct Cases of Wolfram Syndrome

Lemay Annelies , Sinnema Margje , den Brinker Marieke , Dotremont Hilde , France Annick , Rooman Raoul , Straetemans Saartje

Background: Wolfram syndrome features diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness (DIDMOAD). Especially the neurological degeneration usually leads to a very poor prognosis. We present two cases of Wolfram syndrome, an autosomal dominant and an autosomal recessive type, caused by heterozygous mutations in the WFS1 gene.Case report: Case 1: a 13-year-old girl with a history of progressive sensorineuronal hearing loss ...

hrp0084p3-672 | Bone | ESPE2015

Pseudohypoparathyroidism: Clinical Heterogeneity Illustrated by Three Different Cases

Lemay Annelies , den Brinker Marieke , Dotremont Hilde , Ceulemans Berten , France Annick

Background: Pseudohypoparathyroidism represents a group of clinical and molecular heterogeneous disorders, characterized by functional hypoparathyroidism, caused by end-organ resistance to the action of PTH. Pseudohypoparathyroidism manifests as hypocalcemia, hyperphosphatemia and elevated plasma levels of PTH. A combination of features, also known as Albright osteodystrophy including disproportionate short stature, obesity, dysmorphia, may co-exist.Case...

hrp0097p2-249 | Late Breaking | ESPE2023

Longitudinal Improvements in Health-Related Quality of Life among Children and Adolescents enrolled in Canadian Pediatric Weight Management Programs

Ybarra Marina , Rebekah Grace , D. C. Ball Geoff , Buchholz Annick , Hamilton Jill , Zenlea Ian , Morrison Katherine

Background: It is critical to understand patient-reported outcomes in pediatric patients enrolled in pediatric weight management (PWM) clinics. Health-related quality of life (HRQoL) is low in children with obesity. Utilizing data from the CANadian Pediatric Weight Management Registry (CANPWR), we examined (1) changes in HRQoL up to 3 years after enrollment in PWM and (2) factors associated with change in HRQoL over time.Methods:...

hrp0084p3-1101 | Pituitary | ESPE2015

Baseline Characteristics, GH Response, and Long term Evolution in 67 Patients with Pituitary Stalk Interruption According to the Initial Presentation

Bar Celine , Zadro Charline , Diene Gwenaelle , Oliver Isabelle , Pienkowski Catherine , Jouret Beatrice , Audrey Cartault , Sevely Annick , Tauber Maithe , Edouard Thomas

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...

hrp0098p2-210 | Multisystem Endocrine Disorders | ESPE2024

Endocrine Phenotypic Variability in Schaaf-Yang Syndrome: Insights from a Case Series

Goldman Shira , Gruber Noah , Mazor Aronovitch Kineret , Katz Julia , Pode-Shakked Ben , Rein-Rothschild Annick , Pinhas-Hamiel Orit

Introduction: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder first identified in 2013, characterized by features overlapping with Prader-Willi syndrome (PWS) but distinguished by unique symptoms, such as joint contractures and high rates of autism spectrum disorder (ASD). SYS is caused by pathogenic heterozygous variants in the paternally-derived MAGEL2 allele. We sought to describe a case series of three SYS patients, highlighting t...

hrp0084p3-1102 | Pituitary | ESPE2015

Clinical Characteristics of Children with Congenital Combined GH Deficiency without Associated Syndrome in Belgium

Zeevaert Renate , Verlinde Franciska , Thomas Muriel , De Zegher Francis , Cools Martine , Heinrichs Claudine , Beauloye Veronique , France Annick , Lebrethon Marie-Christine , Massa Guy

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...

hrp0089p2-p220 | GH & IGFs P2 | ESPE2018

The ZOMATRIP Study: Four Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Adult Height Outcome

Dotremont Hilde , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Massa Guy , Lebrethon Marie-Christine , Gies Inge , Van Besien Jesse , Derycke Christine , De Schepper Jean , Rooman Raoul

Background: A combination of GH and a gonadotropin releasing hormone analogue (GnRH a) is hypothesized to improve adult height in children with a poor adult height prediction.Study design: In this multicenter study, 24 girls in early puberty (bone age ≤12.0 y),with a predicted adult height ≤151.0 cm and normal body proportions were treated with GH (Zomacton) 50 μg/kg per day and triptorelin (Gonapeptyl) 3.75 mg/month SC or IM (for 4 year...

hrp0086p2-p863 | Syndromes: Mechanisms and Management P2 | ESPE2016

Quality of Life in Growth Hormone Treated Children and Adolescents with Growth Hormone Deficiency and Smallness for Gestational Age

De Schepper Jean , Van der Straaten Saskia , Reynaert Nele , France Annick , Gies Inge , Parent Anne-Simon , Beauloye Veronique , Massa Guy , Beckers Dominique , Heinrichs Claudine , Logghe Karl , Depoorter Sylvia , Thomas Murielle , Verlinde Franciska , Vanderfaeillie Johan

Background: The potential benefit of growth hormone (GH) therapy on health-related QOL (HQoL) of children with short stature related to GH deficiency (GHD) or smallness for gestational age (SGA) has not been well documented.Objective and hypotheses: Our objective was to assess potential disease and treatment related predictors for a poor HQoL in GH treated children. Children with male gender, SGA disorder, greater height deficit at start of GH and poor h...

hrp0082p1-d3-170 | Growth (2) | ESPE2014

The ZOMATRIP Study: 4 Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Interim Results at the End of the Treatment Phase

Rooman Raoul , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Masa Guy , Lebrethon Marie-Christine , Bourguignon Jean-Pierre , Gies Inge , Van Besien Jesse , De Rycke Christine , De Schepper Jean

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...