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Idiopathic ketotic hypoglycemia (KH) is the most common cause of hypoglycemia in non-diabetic children ages 0.5–6 years old and typically occurs after a period of poor food intake. There are no large studies looking at the value of common laboratory testing in children presenting with KH or how often other diagnoses are made.    Objectives  To examine the clinical presentations and the value of laboratory testing done in a cohort of children clinically diagnosed with KH.    Methods  Billing records were searched from 2008 to 2017 for patients seen by the endocrine service for “hypoglycemia, not otherwise specified”. Charts were reviewed to determine age, sex, presenting symptoms and testing ordered at the time of the consult. Through chart reviews after the event and parent phone calls, diagnoses other than idiopathic KH were searched.    Results  Of 150 charts reviewed, 62 had sufficient information to make a clinical diagnosis of KH (32 males 30 females, mean age 2.9 years). Most had a history of gastrointestinal illness or prolonged fasting but 29% had no apparent precipitating event. Laboratory testing was quite variable and while low serum CO 2  was seen in over half, no routine hormone testing, metabolic testing or supervised fasting resulted in a relevant diagnosis. We identified 4 out of 62 (6.5%) with relevant diagnoses which explained KH, including one child with failure to thrive found to have growth hormone (GH) deficiency and 3 by genetic testing, including one case of GSD type 9α, but all had atypical presentations.    Conclusions  In the typical setting of a healthy 0.5–6 year-old child with an uncomplicated episode of KH following poor food intake and a normal exam including growth, hormonal and metabolic testing can safely be deferred. However, frequent recurrences and atypical features should prompt further investigation.    Trial registration  Not needed for a retrospective chart review study.

Clinical and laboratory characteristics and follow up of 62 cases of ketotic hypoglycemia: a retrospective study