ESPE Abstracts

Background: Several symmetric monogenic overgrowth syndromes with tall stature have been described, which is why children with syndromic tall stature should undergo comprehensive diagnostics. Tall stature has not been associated with chromosome 1.Objective: To present height growth and diagnostics in two male siblings with extreme tall stature and moderate mental retardation. Both had a deletion of ASH1L at chro...

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

Background: Patients with a mutation in the thyroid hormone (TH) receptor TRα1 are characterized by growth retardation, delayed bone development, mild cognitive defects and constipation. They also have abnormal TH levels: low FT4, high T3, and low rT3 levels, suggesting an altered peripheral TH metabolism by deiodinases. The type 3 deiodinase (D3) inactivates TH by catalyzing the degradation of T3. D3 is importantly expressed in...

Background: Thyroidectomy is a definitive treatment option in some benign thyroid disorders and the definitive treatment option for thyroid cancer. As postoperative mortality is extremely rare data on postoperative complications and long-term health consequences are important.Objective: To evaluate the frequencies of short- and long-term complications, and their risk factors in pediatric patients (0-18 years) who underwent a thyroidectomy in a tertiary c...

Introduction: Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and hypothalamic outcomes of a Dutch cCP cohort, and evaluate the effect of centralization of care.Methods: A retrospective cohort study was performed, including cCP patients diagnosed between 2004-2021. Treatment characteristics and hypothalamic ...

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) ...