hrp0084fc9.6 | Beta cell disorders | ESPE2015

Pharmacokinetics of a New Suspension of Glibenclamide for Use in Young Patients and Infants with Neonatal Diabetes

Beltrand Jacques , Busiah Kanetee , Berdugo Marianne , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel. Its galenic form (tablets) is not suitable for children, as the dosage can’t be easily modulated and as it induces large pharmacokinetics (PK) variations when administer to young children.Objective and hypotheses: To measure relative biodisponibility of a new galenic form of glibenclamide and ...

hrp0095p1-286 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Sulphonylurea for Improving Neurological Features in Neonatal Diabetes: a systematic review and meta-analyses

de Gouveia Buff Passone Caroline , Giani Elisa , Vaivre-Douret Laurence , Karayawasam Dulandjalee , Berdugo Marianne , Garcin Laure , Beltrand Jacques , Marques Bernardo Wanderley , Polak Michel

Background: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulphonylureas improve long-term glycaemic control. Although KATP channels are extensively expressed in the brain, the effect of sulphonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulphonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-...

hrp0095p1-34 | Diabetes and Insulin | ESPE2022

Early treatment of neonatal diabetes with oral glibenclamide suspension (Amglidia®) in an extremely preterm infant: evidence for efficacy, safety and easiness.

Galderisi Alfonso , Kermorvant-Duchemin Elsa , Daruich Alejandra , Alice Bonnard Adeline , Lapillonne Alexandre , Aubelle Marie-Stéphanie , Perrella Bruna , Cave Héléne , Berdugo Marianne , Jarreau Pierre-Henri , Polak Michel , Beltrand Jacques

Background: Early treatment of neonatal diabetes with sulfonylureas has shown to improve neurodevelopment, beyond the demonstrated efficacy on glycemic control. Several barriers still prevent its use as an early treatment in preterm babies including the limited availability of a suitable galenic form of glibenclamide. Recently, an oral suspension of glibenclamide (Amglidia®) has been approved for use in EU.Methods: W...

hrp0094mte2 | Diagnosis and management of a child with pituitary adenoma | ESPE2021

Diagnosis and management of a child with pituitary adenoma

Skovsager Andersen Marianne ,

A prolactinoma is the most common pituitary adenoma, but a pituitary adenoma is rarely diagnosed in children. Corticotropinomas and somatotropinomas are observed, whereas clinically non-functioning pituitary adenomas, TSH-adenomas and gonadotroph adenomas are very rare in children; a minor percentage of pituitary tumours are aggressive. Genetic cause and syndromic disease are more often seen in children and adolescents with a pituitary adenoma compared to adults, and it is nec...

hrp0084fc8.5 | Obesity - Basic | ESPE2015

Adipocytokines in Placenta and Cord Blood in Relation to Maternal Obesity, and Foetal and Postnatal Growth of the Child

Allbrand Marianne , AEman Jan , Lodefalk Maria

Background: The nutritional and hormonal state in utero may be a link between maternal obesity and obesity in the offspring. The gene expression in placentae in pregnancies complicated by diabetes is reduced for leptin, but increased for ghrelin. It is not known whether these genes’ expressions in placentae are altered in maternal obesity.Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene ...

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...

hrp0082p2-d1-420 | Growth Hormone | ESPE2014

S.c. Injections of a Reversible Albumin-Binding GH Derivative (NNC0195-0092) in Adult Subjects with GH Deficiency is Well Tolerated

Rasmussen Michael Hojby , Janukonyte Jurgita , Klose Marianne , Marina Djordje , Tanvig Mette , Nielsen Lene , Hoybye Charlotte , Andersen Marianne , Feldt-Rasmussen Ulla , Christiansen Jens

Background: Recombinant human GH (rhGH) is normally administered as a daily s.c. injection. NNC0195-0092 is a reversible albumin-binding GH derivative developed with the aim of reducing clearance and thereby extending the exposure. It has previously been demonstrated that NNC0195-0092 is well tolerated in healthy subjects with the potential for once weekly administration.Objective and hypotheses: In this trial NNC0195-0092 was administrated subcutaneousl...

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...

hrp0086p2-p428 | Gonads & DSD P2 | ESPE2016

Hematocolpos Revealed by Non-cyclic Lower-back Pain in a Pre-menarcheal Girl

Ly Nathalie , Jaroussie Marianne , Kyheng Christele , De Filippo Gianpaolo , Levy-Zauberman Yael , Fernandez Herve , Duranteau Lise

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...