ESPE Abstracts

ESPE Abstracts

Published by BioScientifica

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hrp0084p1-96 | Growth | ESPE2015

Ligase IV Deficiency Syndrome as a Cause of Microcephalic Primordial Dwarfism in Dizygotic Twins

Girardin Celine , Ranza Emmanuelle , Klee Philippe , Dirlewanger Mirjam , Caflisch Marianne , Bottani Armand , Schwitzgebel Valerie

Background: Microcephalic primordial dwarfism (MPD) is a group of rare genetic disorders defined by severe growth restriction of both prenatal and postnatal weight (W), height (H), and particularly head circumference (HC).Objective and hypotheses: To elucidate the genetic origin of the MPD in dizygotic twins.Method: Exome sequencing of 19 genes known to be implicated in microcephaly was performed.Results: Diz...
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hrp0095mte2 | Use Androgens During Infancy, Childhood, and Adolescence | ESPE2022

Skovsager Andersen Marianne

Abstract unavailable...
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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...
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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 genesÂ’ expressions in placentae are altered in maternal obesity.Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene ...
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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...
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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...
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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...
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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...
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hrp0082p1-d2-8 | Adrenals & HP Axis | ESPE2014

Normal Value of Steroids in Amniotic Fluid by LC–MS/MS Method

Plotton Ingrid , Ruet Severine , Rigaud Chantal , Till Marianne , Sanlaville Damien , Morel Yves

Background: Determination of steroids in amniotic fluid (AF; Forest et al., J Clin Endocrinol Metab, 1980) has been essentially used in the three past decades for the prenatal diagnosis of 21-OH deficiency. With the recent advances of ultrasound technology (US) and the widespread use of amniocentesis, prenatal diagnosis of DSD appears more common especially if a mismatch between karyotype and external genitalia detected by US occurs. An accurate and specific ...
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hrp0082p2-d3-446 | Growth Hormone (2) | ESPE2014

Evaluation of the Safety and Usability of FlexPro® 30 mg/3 ml, for the Delivery of Norditropin® in Patients Requiring GH Therapy

Fuchs Gitte Schoning , Wen Yanhong , Klinck Rasmus , Qvist Marianne , Kappelgaard Anne-Marie

Introduction: This test assessed the safety and usability of FlexPro® 30 mg/3 ml (Novo Nordisk A/S, Denmark), a pen-injector for injection of human GH in patients with GH deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA), and validated the instructions for use (IFU) and instructional video.Methods: Children with GHD/SGA or TS/NS, adult patients, caregivers of patients with GHD/S...
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