ESPE Abstracts

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

Background: Melanocortin4-receptor (MC4R) deficiency is the most common cause of monogenetic obesity. Other forms of genetic obesity, like 16p11.2 deletion syndrome, are associated with increased head circumference (HC). Little is known about HC in patients with MC4R deficiency.Methods: This study included patients with homozygous or heterozygous, pathogenic or likely pathogenic ACMG class 4 or 5 MC4R variants. Pediatric...

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 ...

Background: Pseudoisodicentric X chromosomes with an Xq deletion (46,X,idic(Xq)) are rare. Most cases are mosaic, the other cell line being 45,X. Nonmosaicism is rare. Phenotype is characterized by the resultant of the X deletion. Variations from short to tall stature can occur and premature ovarian failure is a common feature.Case presentation: A 16 year old girl was referred to our clinic with primary amenorrhoea. She ...

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: In children born SGA with persistent short stature, growth hormone (GH) treatment is an approved therapy for increasing adult height (AH). Some SGA children have an advanced bone age (BA) during GH. Heterozygous mutations in the ACAN-gene have been described in children with idiopathic short stature and advanced BA.Objective and hypotheses: To assess growth during GH treatment with additional GnRHa treatment, in children with ACAN-gene mutati...

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

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) ...