ESPE Abstracts

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

Background: Congenital hypothyroidism (CH) is one of most common endocrine disease in childhood. If unteated, it is one of the leading causes of childhood intellectual disability. CH can be permanent, or can be transient in which thyroid function is spontaneously recovered. It is also known that among children with congenital hypothyroidism, the proportion of transient cases is higher in preterm than in full term babies. But there are few, if any, large studies which evaluated...

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. TBG excess is caused by TBG gene duplication or triplication. A 27 day old newborn was brought to the hospital because of hyperthyroxinemia that was identified through neonatal screenin...

Thyrotoxicosis refers to a hypermetabolic state that results in excessive amounts of circulating thyroid hormone. Pediatric patients retain significant thymic tissue that regresses only later in life. This thymic tissue can develop significant hyperplasia during an acute autoimmune process. We describe a case of a 14-year-old girl who presented with dysphonia secondary to severe Graves' disease and a 1-month history of goiter, anxiety, restlessness, and tremor. A 99 mTc t...

Background: GH treatment increases glomerular filtration rate (GFR), as serum IGF-I stimulates the renin-angiotensin system. Data on longitudinal changes in GFR after cessation of GH treatment in young adults born small for gestational age (SGA) are not available. It is essential to ascertain longitudinal data after cessation of GH treatment, to evaluate the possible long-term effects of higher serum IGF-I levels during childhood treatment on adult GFR.<p ...

Background: Assessment of care and outcomes in children with diabetes requires on-going monitoring to ensure improvement.Objective and hypotheses: To assess the current quality of care and outcomes for children and young people with diabetes in England and Wales.Method: The National Paediatric Diabetes Audit (NPDA) collates data on the demographic characteristics, care processes and outcomes of all children and young people with di...

Screening for diabetic retinopathy has been expanded from ophthalmology-based assessments. Retinal photography can be used in primary care by trained photographers, and then graded by trained staff using Telemedicine. Ultrawide retinal cameras can now capture over 80% of the retina from a single image. It may be more predictive of progression to proliferative retinopathy than the traditional views, but cost of equipment for benefit is unclear. There have been advances in D...

Purpose: To investigate overall characteristics of glucose intolerance in childhood survivors of hematologic diseases and suggest risk factors which increase A1c (glycated hemoglobin) level.Methods: Based on a retrospective review of 394 children who were diagnosed with acute leukemia or aplastic anemia between 2015 and 2016 under the age of 15, glucose intolerance was observed in 14 patients. A definition of glucose intolerance was A1c above 5.7%. Auxol...