Related Experiment Video
Updated: May 21, 2025
Author Spotlight: Extended Oxygen Consumption Measurement in Retinal Pigment Epithelium Using Resipher
Published on: August 16, 2024
Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic Dysplasia
David J Cullingford1,2,3, Jacqueline A Curran1, Mary B Abraham1,2,4
1Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, WA 6009, Australia.
Insights
Children with Septo-optic dysplasia (SOD) exhibit lower resting energy expenditure (REE) than predicted. Hypothalamic dysfunction may contribute to obesity in SOD, suggesting indirect calorimetry for management.
Area of Science:
- Pediatric Endocrinology
- Metabolic Research
- Neuroendocrinology
Background:
- Septo-optic dysplasia (SOD) is a significant cause of congenital hypopituitarism.
- Overweight and obesity affect up to 44% of children with SOD.
- The hypothalamus plays a crucial role in hormonal regulation and energy balance.
Purpose of the Study:
- To characterize resting energy expenditure (REE) in children with SOD.
- To evaluate appetite and physical activity in relation to metabolic features.
- To assess the association between REE, appetite, physical activity, and elevated body mass index (BMI) in SOD.
Main Methods:
- Indirect calorimetry (CosMED Q-NRG) was used to measure REE (mREE) in children with SOD (age >5 years).
- Measured REE (mREE) was compared to predicted REE (pREE) using the Schofield equation.
- Questionnaires assessed pituitary function, hyperphagia, and sleep disturbances; BMI z-score >1 indicated elevated BMI.
Main Results:
- Twenty-six children with SOD (mean age 12.1 years) participated; 11 had elevated BMI.
- Children with SOD showed a lower mREE/pREE quotient (88.8% ± 10.1) compared to predicted values.
- Hyperphagia scores were higher in children with multiple hypopituitarism and pituitary structural defects (P < .05).
Conclusions:
- Children with SOD have reduced mREE compared to predictions.
- Hypothalamic dysfunction, indicated by hyperphagia and altered REE, may drive BMI elevation in SOD.
- Indirect calorimetry can inform the management of overweight and obesity in SOD.
Context:
Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
Objective:
To characterize REE and other metabolic features in patients with SOD and evaluate relationships with elevated body mass index (BMI).
Methods:
Children with SOD above 5 years of age attending Perth Children's Hospital participated. A CosMED Q-NRG indirect calorimeter was used to calculate mean measure REE (mREE). This was compared with predictive REE (pREE) based on the Schofield equation to determine mREE/pREE quotient. A BMI z-score >1 was considered elevated. Parents/carers completed a questionnaire about pituitary function, the Hyperphagia Questionnaire and the Sleep Disturbances Scale for Children (SDSC).
Results:
Twenty-six participants underwent testing (9 female, mean age 12.1 years) with 11 having elevated BMI and 15 with pituitary hormone deficiencies. Mean mREE was 1309 kcal/day (838-1732), mREE/pREE quotient was 88.8% ± 10.1. mREE/pREE quotient was similar in those with elevated BMI compared with normal BMI (83.3% ± 12.5 vs 92.1% ± 7.2, P = .068). Those with midline defects had a higher mREE/pREE quotient (91.8% ± 8.1 vs 80.4% ± 11.3, P = .026). Hyperphagia and SDSC scores were similar between BMI groups. Hyperphagia domain scores were higher in children with multiple hypopituitarism, pituitary structural defects, and normal septum pellucidum (P = .044, .042, and .033, respectively).
Conclusion:
Children with SOD had lower mREE than predicted and hyperphagia scores were higher in those with biochemical or structural pituitary changes, suggesting that hypothalamic dysfunction could drive BMI elevation in SOD. Indirect calorimetry may be used to guide the management of overweight and obesity in SOD.
