ESPE Abstracts

Congenital Hyperinsulinism (HI) causes severe hypoglycemia. In most countries, the estimated incidence of HI is approximately 1/25,000 to 1/50,000 births, classifying it as a rare disease. According to Pediatric Endocrine Society (PES) Guidelines, neonates should be screened for hypoglycemia if they have any of the following: symptoms of hypoglycemia, large for gestational age, perinatal stress, premature or postmature delivery, infant of diabetic mother, family history of a genetic form of hypoglycemia, or congenital syndromes or abnormal physical features. The aims of this study were to determine if Congenital Hyperinsulinism International HI Global Registry (HIGR) participants had documented hypoglycemia risk factors as defined by PES and if these neonates were screened for hypoglycemia prior to discharge from their birthing facility. This study utilized HIGR participant online survey data collected from individuals with HI or their parents between 2018-2022. All variables were categorical data analysis was conducted in Stata, and Chi-square analysis was completed. Of 169 participants, 76.9% (n=130) had an identified risk of hypoglycemia as defined by the PES guidelines. These included 26.3% who were premature, 16.1% who had mothers with diabetes, 26.2% were large birthweight babies, 48.6% were unable to maintain sugar above 50mg/dL (2,8 mmol/l or 0,5 g/L) before usual feed up to 48 hours of age, and 34.5% were unable to maintain sugar above 60 mg/dL (3,3 mmol/l or 0,6 g/L) before usual feed over 48 hours of age. Of those who had one or more of the identified risk factors, 64.6% (n=84, P<.001) reported that the individual with HI was identified as being at risk prior to leaving the birthing facility. This means that 27.2% (n=46) had a known risk as defined by PES guidelines but were not identified prior to leaving the birthing facility. Additionally, 32.9% (n=53) of individuals did not have an abnormal blood glucose test recorded before leaving the birthing facility or being released to parent care, of whom 47.17% (n=25, P<.001) had a known risk factor. Only 22.6% (n=38) of these neonates had a fasting study before leaving the birthing center, of which 94.7% (n=36) had an identified risk factor. Additionally, 66.7% (n=68) of individuals who had an abnormal blood glucose test did not have a fasting study before leaving the birthing study (P<.001). It is critical to identify the signs and symptoms of hypoglycemia and to manage hypoglycemia from HI in neonates to avert preventable brain damage.