ESPE Abstracts

Wilson disease (WD) is a relatively common genetic hepatic disease in pediatric area and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement that may not be noticable. In obese patients, WD coul...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Drugs can interfere with immunoassays causing false measurements. Trientine (triethylene tetramine dihydrochloride) is a chelator of copper and is used in the treatment of patients with Wilson's disease as alternative for penicillamine. Trientine mainly increases urinary copper excretion leading to a negative copper balance. Serum concentrations of trientine reached under treatment are not known. This is the first report of an interference of trientine with two chemilumine...

Background: Adult height prediction (AHP) based on bone age appears as an incomplete procedure – it does not reveal the path from the present to the end-point. Growth charts offer little help in this respect because they average over children with different age of growth spurt (AGS).Objective and hypotheses: To extend AHP by also forecasting AGS and the entire height and velocity trajectories until adulthood and displaying this in a growth chart mad...

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height ...

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

Endocrine disorders are the most common causes of secondary hypertension. Early diagnosis and treatment is crucial for prevention of cardiovascular complications. Several rare but important entities like Cushing’s syndrome and pheochromocytoma/paraganglioma can cause endocrine hypertension, in contrast to primary aldosteronism, which is quite frequent. Definition, classification and prevalence: With a prevalence of 6% in unselected patients with hypertension, 5 to...

Background: Adverse changes in metabolic parameters and body composition are frequently reported among childhood cancer survivors treated with cranial or total body irradiation. Data regarding the occurrence of metabolic impairments among survivors following abdominal and pelvic radiation are lacking.Objective and hypotheses: To define the prevalence of metabolic impairments among survivors of paediatric abdominal and pelvic solid tumours and to assess t...

Background: Congenital Hyperinsulinism (CHI) is the most common cause of recurrent and severe hypoglycaemia in childhood and can be broadly categorised into two subtypes. Diffuse CHI (CHI-D) involving all pancreatic cells is usually treated with medications and rarely subtotal pancreatectomy. Focal CHI (CHI-F) involves a solitary insulin hypersecreting pancreatic lesion and can be cured following surgical lesionectomy. Many patients with CHI-F and CHI-D underg...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...