ESPE Abstracts

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...

Background: The cardiovascular risk for children receiving treatment with GH has hardly been investigated. Therefore, we studied the relationships between GH treatment and carotid intima media-thickness (IMT), which is predictive for the cardiovascular diseases.Methods: We measured carotid IMT (four values) in 100 children (mean age 11.6±2.8 years, 63% male) treated with GH (GH deficiency 61%, SGA 31%, Turner syndrome 5%, SHOX deficiency 2%, Prader-...

Background: Hereditary Nephrogenic Diabetes Insipidus (HNDI) is an uncommon disorder due to a resistance to anti diuretic hormone (ADH) leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes.Objective and hypotheses: We report a mother and daughter with HNDI...

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

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) ...

Background: Carbimazole is widely used in the treatment of Graves’ disease and is well tolerated but can produce adverse effects in 5% of cases. Urticaria, which can develop as a drug reaction to carbimazole responds to withdrawal of the drug and symptomatic management. Urticaria is also a rare manifestation of thyrotoxicosis and does not respond to treatment, but regresses rapidly with the control of underlying hyperthyroidism.Objective and hypothe...

Background: The post-authorisation registry, European Increlex® Growth Forum Database (EU-IGFD), initiated in December 2008, collects data in children receiving Increlex (mecasermin (rDNA origin) injection) for growth failure, including Laron syndrome (LS) (severe primary IGF1 deficiency with confirmed GH-receptor mutation).Objective and hypotheses: Report safety and effectiveness data in children with LS.Method: Multicentre, ...

Background: The post-authorisation registry, European Increlex® (mecasermin (rDNA origin) injection) Growth European Increlex Growth Forum Database (EU-IGFD), initiated in December 2008, collects safety and efficacy data in children receiving Increlex® for growth failure. Hypoglycaemia has been reported as a common adverse event (AE) during any IGF1 replacement therapy in randomised clinical trials, and is therefore of interest in real-life sett...

Introduction: X-linked hypophosphataemic rickets (XLH), due to mutations in the PHEX (Phosphate-regulating Endopeptidase homolog; X-linked) gene, causes reduced bone and dentin mineralisation and decreased renal phosphate reabsorption. Mosaic PHEX mutations are reported only in a few case reports.We report three male cases, with mosaic pathogenic PHEX variants, showing importance of considering this in the diagnosis of XLH.Case 1 pre...

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...