ESPE Abstracts

CHARGE syndrome is a rare and complex disorder with an incidence of 1:15000 to 1:17000 live births. It is associated with a wide range of issues, including, but not limited to, coloboma of the eye, congenital heart disease, atresia of the choanae, retardation of growth and development, hypogonadotropic hypogonadism, ear abnormalities and hearing loss. Hypogonadotropic hypogonadism is present in 60-88% of individuals with CHARGE syndrome. In these patients, hormone replacement ...

The easypod™ electromechanical injection in combination with the easypod Connect platform electronically records and transmits, in real time, accurate, objective records of the date, time and dose injected for patients receiving Growth Hormone (GH) for growth disorders, limiting the risk of misreporting and allowing physicians to accurately monitor patient behavior.The aim was to study individual patterns of adherence from start treatment up to 24 m...

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...

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....

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) ...

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...

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...

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...

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...

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...