hrp0089p3-p007 | Adrenals and HPA Axis P3 | ESPE2018

Refractory Cyclical Cushing’s Disease - a Case of Multiple Pituitary Micro-adenomas in a Three Year Old Girl after 8 Years Follow up

Robinson Elizabeth , Poonam Poonam Dharmaraj , Heyningen Carl van

Case presentation: A 3 years 10 months old British white girl presented with rapid weight gain of 11 kg over 4 months, hirsutism, central obesity, moon face, buffalo hump and hypertension.Investigations: Plasma cortisol, IGF-1 and ACTH levels were elevated. The 9am plasma cortisol was 1035 nmol/l (140–500) with simultaneous plasma ACTH 13 pmol/l (1–11). Plasma cortisol and ACTH levels responded to both dexamethasone suppression and CRH stimulat...

hrp0086rfc9.7 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Chronotype and Type 2 Diabetes Risk in Preadolescents

Dumin Magdalena , O'Sullivan Katie , Van Cauter Eve , Koren Dorit

Background: An individual’s chronotype, or preference in the timing of sleep or food intake, may have metabolic implications. Late chronotype has been associated with higher body mass index (BMI) and hemoglobin A1c (HbA1c) in adults and greater BMI, portion sizes, and lower HDL cholesterol levels in adolescents.Objective and hypothesis: To examine associations between chronotype and risk factors for type 2 diabetes in children ages 10–13 years....

hrp0082p2-d1-518 | Pituitary | ESPE2014

Goliath, a Variant of DAVID Syndrome?

Hasselmann Caroline , Samuels Mark E , Van Vliet Guy

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

hrp0084p1-119 | Puberty | ESPE2015

Lipid Profiles in Gender Dysphoric Adolescents Treated with GnRH Agonists Alone and in Combination with Cross-Sex Hormones

Schagen Sebastian , Delemarre-van de Waal Henriette , Hannema Sabine

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. Subsequently cross sex hormones can be given to induce pubertal development of the experienced gender. Only few data are available on the safety of this treatment. Lipid levels are known to increase during puberty and pubertal suppression may alter this increase. In gender dysphoric male-to female (MtF) adults oestrogens has been shown to result in a more fa...

hrp0084p2-191 | Adrenals | ESPE2015

Central Adrenal Insufficiency is not a Common Feature in CHARGE Syndrome

Bocca Gianni , Wong Monica , Ravenswaaij-Arts Conny van

Background: CHARGE syndrome (acronym for coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital hypoplasia, and ear abnormalities) is caused by a mutation in the CHD7 gene. CHARGE syndrome shares features with Prader-Willi syndrome, especially regarding hypothalamic-pituitary abnormalities. In Prader-Willi syndrome, central adrenal insufficiency (CAI) during stressful conditions has been described in a large number of pati...

hrp0084p2-263 | Diabetes | ESPE2015

Insulin Sensitivity in Adolescents with Gender Dysphoria During Puberty Suppressing Therapy with GnRH Agonists

Schagen Sebastian , Delemarre-van de Waal Henriette , Hannema Sabine

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. The metabolic implications of the pubertal suppression have not yet been explored. Insulin sensitivity is known to be influenced by pubertal changes. During puberty a decrease in insulin sensitivity is normally observed.Objective and hypotheses: The effects of GnRH agonists on insulin sensitivity during 2 years of treatment in adolesce...

hrp0084p2-515 | Pituitary | ESPE2015

Contrasting Central Diabetes Insipidus due to preproAVP Mutations: Earlier Onset of Symptoms in Recessive than in Dominant Forms

Bourdet Karine , Valette Sophie , Deladoey Johnny , Vliet Guy Van

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...

hrp0084p3-923 | GH & IGF | ESPE2015

IGFI and Relation to Growth in Infancy and Early Childhood in Very-Low-Birth-Weight Infants and Term Appropriate for Gestational Age Infants

Jong Miranda de , Cranendonk Anneke , van Weissenbruch Mirjam M.

Background: IGFI regulates early postnatal growth of preterm infants and also plays an important role in growth in childhood. Very-low-birth-weight (VLBW) infants are at risk for reduced growth in early childhood.Objective and hypotheses: To compare IGFI and the correlation to growth parameters in infancy and early childhood in VLBW and term appropriate for gestational age (AGA) infants.Method: We included 41 VLBW children and 64 t...

hrp0094fc2.5 | Fat, Metabolism and Obesity | ESPE2021

Reference values for longitudinal body composition in children aged 0-5 years, using Dual-energy X-ray (DXA) absorptiometry

van Beijsterveldt Inge , de Fluiter Kirsten , Hokken-Koelega Anita ,

Background and Objectives: Childhood obesity is a global public health threat, with an alarming rise in incidence. Obesity at young age has short-term consequences, as well as long-term morbidity. It is, therefore, important to determine body composition longitudinal throughout infancy and childhood to prevent excess adiposity. Multiple methods are used to determine body composition in infants and young children, but none are described as suitable for longitud...

hrp0094fc9.2 | Growth Hormone and IGFs | ESPE2021

A simple model with height and age at start of treatment with recombinant human growth hormone can accurately predict future growth in children with growth disorders

van Dommelen Paula , Arnaud Lilian , Masne Quentin Le , Koledova Ekaterina ,

Background: A growth prediction model would not only allow patients with growth disorders the opportunity to see the expected effect of their recombinant human growth hormone (r hGH) treatment, but also support healthcare professionals to individualise treatment to optimise growth outcomes.Aim: To develop a growth prediction model in children with growth disorders.Patients and Methods: Height and c...