ESPE Abstracts

GH deficiency (GHD) associated hypoglycaemia in infancy is an indication for GH treatment, although it is described in GHD1in older children. At that time, GH is prescribed in GHD for short stature. Here, two children are described in whom hypoglycaemia is the main reason to treat with GH. Patient one had hypoglycaemic seizures due to GHD in infancy. GH treatment was stopped with 5.5 y for reassessment. Growth rate diminished and hypoglycaemias occurred. Treatment of GH was re...

Background: A case of hypopituitarism usually related to hypothyroidism and hypoadrenalism. The unexpected effect of somatropin treatment is reported presented with clinical signs.Method and results: A 4-year-old adynamic boy in a wheel chair with normal height (105 cm, −0.7 SDS) but low weight (13 kg) and reduced TSH and thyroid hormones was transferred for further endocrine evaluation. Born after twin pregnancy in 35 weeks (2780 g, 49 cm, and 34 ...

Introduction: GH deficiency may be evaluated by spontaneous nocturnal GH secretion. Usually one night is examined. Since sleep may be disturbed by a new environment, a night to accustom is required by some investigators, which is questioned by others. Thus, we examined spontaneous nocturnal GH secretion during 2 consecutive nights.Methods: 49 girls and 56 boys with suspicion of GH deficiency were examined between 10 pm and 8 am during 2 consecutive night...

Background: Ullrich-Turner-Syndrome is usually characterized by typical morphological features. Short status, delayed bone age in childhood and gonadal dysgenesis with delayed or lacking pubertal development, amenorrhoea and infertility. Other symptoms like thyroid dysfunction, heart defects, diabetes, behavioural or learning problems vary. The genotype/phenotype correlation may be poor. Especially in UTS mosaicism, spontaneous puberty may occur.Objectiv...

A 15 year old girl presented with severe symptomatic hypoglycaemia. Diagnostic work up revealed only a diminished GH secretion at and during severe hypoglycaemia and after arginine stimulation. Injection of GH twice daily abolished the hypoglycaemia for several days. For practicability a treatment with long acting GH (Ngenla) 46 mg/week was started. Symptoms were not entirely abolished, so that the dose was increased to 54 mg /week which was successful. However 2 weeks after t...

Background: More than 20 gene loci are known to cause monogenic neonatal diabetes today. A definite mutation can be found in 65–70% of all cases. Mutations in the ATP sensitive potassium channel can frequently be treated by sulfonylurea. Glibenclamide is on of the drugs known to inhibit the bile salt export pump (BSEP). However most drug induced cholestasis cases are reported in adults.Objective and hypotheses: Glibenclamide is used frequently to tr...

A 15y old girl presented with severe hypoglycaemic symptoms in combination with low blood glucose levels (<60 mg/dl). She had symptoms for over 1 year in combination with reduced activity, development of oligomenorrhoea after 2 years of normal cycles, increased fluid intake. Continuous sc. glucose measurement revealed constantly low or reduced glucose levels apart from a few increases after meals. Metabolic laboratory testing was normal apart from a single diminished GH lev...

Background: Specific measurement of low serum/plasma concentrations of 17β-oestradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. The role of oestrone (E1) and oestriol (E3) is not as comprehensively well understood in different pediatric endocrine disease states. We describe a method for high sensitivity analysis of estradiol (E2), oestrone (E1) and oestriol (E3) using LC-MS/MS.Objective and hypothes...

A child with ambiguous genitalia (Prader IV) was born at term from non-consanguineous parents. Otherwise, medical history was normal. Penile length was < 1.5 cm with penoscrotal hypospadia. Testes were inguinal and < 0.5ml. Karyotype was XY and analysis of gonadal and adrenal steroids by TMS showed undetectable testosterone and dihydrotestosterone (DHT) and normal adrenal steroids. Testosterone and DHT rose spontaneously during “Minipuberty” at 1.5 month and ...

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...