hrp0095p1-431 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Kenny-Caffey Type 2 syndrome (KCT2S) as a rare cause of hypoparathyroidism causing neonatal seizures

Granzotto Marguerite , Weitzel Christina , Scalais Emmanuel , Becker Marianne

We report a male patient born small for gestational age (birth weight 2090 g, -2.97 SDS; birth length 43.5 cm, -3.37 SDS), with dysmorphic features (triangular face, low-set, posteriorly rotated ears, pectus excavatum, large anterior fontanel) who presented with seizures at the age of 4 weeks. The child was treated with antiepileptic drugs (Levetiracetam, Midazolam, Phenobarbital, carbamazepine) for 1 year until a severe hypocalcemia (Calcium 6.4 mg/dl, ionised calcium 0.78 mm...

hrp0089p3-p386 | Thyroid P3 | ESPE2018

Papillary Thyroid Carcinoma in a 7 Year Old Boy Presenting with a Goiter Without Microcalcifications and Enlarged Cervical Lymph Nodes

Becker Marianne , Vega Letizia , De Beaufort Carine , Philippe Paul , Kieffer Isabelle

Introduction: Only 1.8% of thyroid malignancies occur during childhood, explaining very limited pediatric data. Most frequent in children are papillary thyroid carcinoma (PTC), occurring after exposure to radiation, and presenting as a thyroid nodule ± cervical lymph nodes. PTC may present as diffusely infiltrating disease of the thyroid with microcalcifications. We report an uncommon presentation of a PTC in a 7 year old boy.Case report: The boy wa...

hrp0094p2-103 | Diabetes and insulin | ESPE2021

Diabetes in a child with infantile onset multisystem neurological, endocrine and pancreatic disease (IMNEPD)

Becker Marianne , Seneca Sara , Schierloh Ulrike , Witsch Michael , de Beaufort Carine , Scalais Emmanuel ,

IMNEPD is a mitochondrial disease caused by homozygous mutations in the PTRH2 gene, a nuclear gene coding for a primary mitochondrial protein. IMNEPD was first described in 2014. So far only 3 other case reports have been published, reporting on a total of 15 patients. We report on two affected siblings of whom the girl developed an antibody negative diabetes at 13 years of age with typical symptoms (polyuria, polydipsia, weight loss of 1,5 kg), and without diabetic k...

hrp0095p1-115 | Growth and Syndromes | ESPE2022

Validation of referral criteria for growth monitoring in Flanders based on height at the start of GH therapy in children with growth hormone deficiency and Turner syndrome

Klink Daniel , Logghe Karl , Thomas Muriel , Roelants Mathieu , Van Hoeck Katelijne , Lysy Philippe , Becker Marianne , Staels Willem , de Schepper Jean

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...

hrp0092p1-179 | Diabetes and Insulin (1) | ESPE2019

Longitudinal Metabolic Control After Initiation of Insulin Pump in 5,040 Pediatric Type-1-Diabetes Subjects – Heterogeneous HbA1c Trajectories Over Three Years from the DPV Registry

Prinz Nicole , Schwandt Anke , Becker Marianne , Biester Torben , Hess Melanie , Holder Martin , Karges Beate , Näke Andrea , von Sengbusch Simone , Tauschmann Martin , Holl Reinhard W.

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

hrp0095fc10.5 | GH and IGFs | ESPE2022

Features and outcomes of syndromic vs non-syndromic children born small for gestational age (SGA) under growth hormone therapy in a Belgian cohort

Becker Marianne , Thomas Muriel , Brachet Cécile , Heinrichs Claudine , Dotremont Hilde , Logghe Karl , Casteels Kristina , Rochtus Anne , Klink Daniel , Cools Martine , De Waele Kathleen , Parent Anne-Simone , Massa Guy , Staels Willem , Gies Inge , Lysy Philippe , Beckers Dominique

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

hrp0094p2-260 | Growth hormone and IGFs | ESPE2021

Current growth hormone therapy practices in Belgium for the treatment of short children born small for gestational age

Thomas Muriel , Casteels Kristina , Rochtus Anne , van der Straaten Saskia , Van Aken Sara) , Fudvoye Julie , Boros Emese , Dotremont Hilde , Vanbesien Jesse , Mouraux Thierry , Chivu Olimpia , Logghe Karl , Reynaert Nele , Massa Guy , Depoorter Sylvia , Klink Daniel , Becker Marianne , Lysy Philippe , De Schepper Jean ,

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...