Clinical Characteristics and Long-Term Outcomes of Persistent Hyperinsulinemia Hypoglycemia of Infancy

Omalmir Fathalla; Nadia Alghazir; Najwa Abduljawad; Millad Ghawil; Ibtisam Hadid; Hend Ismail

doi:10.54361/ajmas.269704

Authors

Omalmir Fathalla Department of Pediatric Endocrinology, Tripoli University Hospital, University of Tripoli, Tripoli, Libya https://orcid.org/0009-0000-1741-841X
Nadia Alghazir Department of Pediatric Endocrinology, Tripoli University Hospital, University of Tripoli, Tripoli, Libya https://orcid.org/0009-0001-9517-5975
Najwa Abduljawad Department of Pediatric Endocrinology, Faculty of Medicine, Omar-Almohktar University, Elbyda, Libya https://orcid.org/0009-0008-1073-3060
Millad Ghawil Department of Pediatric Endocrinology, Tripoli University Hospital, University of Tripoli, Tripoli, Libya https://orcid.org/0000-0002-7709-4514
Ibtisam Hadid Department of Pediatric Endocrinology, Tripoli University Hospital, University of Tripoli, Tripoli, Libya https://orcid.org/0000-0001-8779-5560
Hend Ismail Department of Pediatric Endocrinology, Tripoli University Hospital, University of Tripoli, Tripoli, Libya https://orcid.org/0000-0002-3906-4541

DOI:

https://doi.org/10.54361/ajmas.269704

Keywords:

PHHI, Congenital Hyperinsulinism, Hypoglycemia, ABCC8, Pancreatectomy, Libya

Abstract

Persistent Hyperinsulinemic Hypoglycaemia of Infancy (PHHI), also known as Congenital Hyperinsulinism (CHI), is the most common and severe cause of persistent hypoglycemia in neonates and infants. Delays in diagnosis can lead to permanent brain injury in up to 25–50% of cases. This study aims to describe the clinical characteristics, genetic findings, and long-term outcomes of PHHI patients in a Libyan tertiary center. We retrospectively reviewed 27 infants (17 males, 10 females) diagnosed with PHHI at Tripoli University Hospital between 1996 and 2024. Data regarding clinical presentation, birth history, consanguinity, biochemical markers (insulin, glucose, insulin-to-glucose ratio), genetic analysis, management, and long-term outcomes were analyzed. The mean birth weight was 4.0 kg, and the mean age of presentation was 3 weeks (range: 1 day to 6 years). High rates of consanguinity were observed (74%). Biochemical analysis showed mean insulin levels of 21.6 µU/ml during hypoglycemia, with an insulin-to-glucose ratio ranging from 0.75 to 8.0. Histologically, 7 patients (26%) had focal lesions, while 20 (74%) had diffuse disease. Twenty-four patients underwent sub-total or near-total pancreatectomy. Long-term complications included Diabetes Mellitus in 18 patients (66.6%) and unfavorable neurological outcomes in 3 patients due to late intervention. Neurologic and psychomotor retardation with ADHD was observed in 8 patients (29.6%), and epilepsy in 4 patients (14.8%). Genetic testing in 13 patients (48.1%) confirmed ABCC8 mutations in several cases. Conclusions: Early recognition and aggressive management are critical to preventing neurological damage in PHHI. Genetic studies are invaluable for determining the underlying cause and guiding surgical vs. medical management. In regions with high consanguinity, genetic counseling is essential for affected families.