Endocrine Abstracts

Background: CHI is a well-recognized cause of hypoglycemia in infancy and is often associated with syndromes like BWS. While hypoglycemia resolves spontaneously in nearly half of BWS cases, others experience persistent, severe hypoglycemia due to CHI, requiring medical or surgical intervention. This study outlines treatment outcomes for CHI in BWS patients at our CHI Highly Specialized Centre.

Methods: We conducted a retrospective analysis of 23 patients referred to our center for CHI associated with BWS between 2003 and 2022. Patients categorized into those managed medically and those managed surgically. Medical treatment included diazoxide and, if unresponsive, somatostatin analogues (octreotide, lanreotide) or sirolimus, along with enteral carbohydrate supplementation. Treatment responsiveness was assessed based on achieving euglycemia and tolerating age-appropriate fast. Surgical intervention was pursued for medically unresponsive patients.

Results: We analyzed 23 patients with CHI associated with BWS. BWS was suspected based on typical clinical features and genetically confirmed in 20 cases. The most common genetic cause was uniparental disomy of chromosome 11p. All patients presented with neonatal hypoglycemia due to hyperinsulinism. Most cases were managed medically (19), while 3 required pancreatic surgery (two sub-total pancreatectomies; one lesionectomy). One baby died due to other BWS-related complications. Among those managed medically, 13 were treated with diazoxide (3-20 mg/kg/day); 4 received high-dose octreotide (35-40 mg/kg/day), with two transitioning to lanreotide; 2 treated with medication combinations (diazoxide/octreotide or octreotide/sirolimus). At discharge, 18 patients were feeding orally, while 5 required frequent gastrostomy or nasogastric tube feeds. Fourteen of the medically treated patients stopped treatment at a median age of 1.5 years (range 2 months to 8 years), while 5 continue treatment. Three patients required pancreatectomy and continue to have hypoglycemia post-surgery, managed with octreotide in one case and diazoxide in the other two.

Conclusion: Most patients responded well to diazoxide, resolving CHI by a median age of 1.5 years. Severe cases required both surgical and medical treatments. Our study underscores initial medication use (diazoxide, octreotide, lanreotide) and supplemental carbohydrates. Surgical intervention remains an option if medical treatment is ineffective, requiring a multidisciplinary approach in a specialized center for optimal outcomes and ongoing surveillance.