ESPE Abstracts

Background: Pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (2 years GnRHa) and even more so with 2 mg/m2 per day (~0.067 mg/kg per day). Concerns haven been raised about the effects of GH and GnRHa on insulin sensitivity on the long-term.Objective and hypotheses: To ...

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

The structure and design of the ESPE web portal (www.espe-elearning.org) is based on facilitating Problem-Based Learning (PBL). It consists of carefully designed problems that challenge medical students, residents, postdoc’s to use problem solving techniques, self-directed learning strategies and specialty knowledge.The ESPE e-learning web portal is an interactive learning environment for up to date topics in pediatric endocrinology and diabetes co...

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

Objectives: X-linked hypophosphataemia (XLH) is a rare, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry (NCT03193476) (initiated in August 2017, target 1,200 children and adults with XLH, running for 10 years) will provide information on the natural history of XLH and impact of treatment on patient outcomes. This report summarises baseline data from the first interim analy...

Background: Skeletal dysplasia is the main cause of disproportionate short stature. The severity may vary. The present patient had disproportionate short stature with brachydactyly.Patient and method: A boy of 5 years old presented with height 108.9 cm (−1.8 S.D.), sitting height/height ratio was +3.4 S.D., short hands and feet with short metacarpal 4 and metatarsal 4 on both sides. He had increased lumbar lordosis and...

Introduction: Monitoring steroid hormone levels of children with endocrine disorders, such as congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD), can be challenging. Dried blood spot (DBS) sampling can be helpful for these patients. DBS sampling is less invasive, easier to sample, and simpler to transport and store compared to venous blood sampling. Additionally, DBS sampling can be done at home at any time of the day, thus improving p...

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

Rationale: Bronchopulmonary dysplasia (BPD) is a major complication of preterm birth, which pathophysiology involves systematic inflammation. Preterm infants commonly suffer from relative adrenal insufficiency (RAI) in their first week of life, resulting in an insufficient production of cortisol inappropriate for the degree of inflammation. One of the major causes of RAI is immaturity of adrenal cortex enzymes, leading to an accumulation of cortisol precursors...