ESPE Abstracts

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitaris...

Objectives: Bone mineral density is reduced in children and adolescents with inflammatory bowel disease (IBF). The exact cause of this reduction is not known and is often attributed to corticosteroid use. The aim of the study was to evaluate bone mineral density in children with IBF without previous corticosteroid exposure.Methods: Twelve children aged 8-17years with IBF (8 with Crohn's disease and 4 with ulcerative ...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Background: Pseudopseudohypoparathyroidism (PPHP) is a rare variant of pseudohypoparathyroidism (PHP) type I, with typical anatomical abnormalities known as Albright's hereditary osteodystrophy (AHO)(short stature, brachydactyly particularly involving metacarpals and metatarsals, round face, stocky build, ectopic ossifications and a number of possible associated defects), but with normal calcium, phosphate and PTH levels and normal response to exogenous PT...

Background: The COVID-19 pandemic has resulted in rapid implementation of tele-clinics; patients have frequently missed routine point-of-care HbA1c testing, vital for evaluating long-term glycaemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with engagement with this system.Methods: Bio-Rad Haemog...

Objectives: The SARS-CoV-2 pandemic has resulted in major cutbacks in service provision to patients. This could be detrimental to children with diabetes mellitus (DM), whose condition could deteriorate from poor access to healthcare. The lockdown has also potentially caused changes in diet, sedentary behavior and psychological burden due to the stress associated with the pandemic, which can have negative effects on glycemic control. Thus, this study compares c...