ESPE Abstracts

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

Background: Due to the rarity of Paediatric Cushing’s disease (CD) there is limited data on the long-term consequences of treatment.Objective and hypotheses: We assessed recurrence, anterior pituitary function and psychiatric disorders in a group of paediatric CD patients treated in a single centre.Method: Retrospective review of 20 patients with CD, mean age 11.75 years (5.74–17.8), managed in our centre between 1986 and...

Background: Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. Published diagnostic guidelines for CS are heavily based upon adult data. The use of 24-h urinary free cortisol (UFC) measurements in the diagnosis of adult CS may have limited use. There is little data on the utility of 24-h UFC in children.Objective and hypotheses: We hypothesised that 24-h UFC is a robust and reliable screening test in children. The study...

Introduction: Little is known about the effects of puberty suppression (PS) and hormone therapy (HT) on growth and adult height in transgender adolescents. These are topics of interest since height differs between sexes and some transgirls wish to limit their growth. In this longitudinal cohort study, we investigated the influence of PS and HT on growth and the efficacy of growth reduction therapy in transgender girls.Methods:</s...

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

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...