Cullingford David J, Curran Jacqueline A, Abraham Mary B, Siafarikas Aris, Blackmore A Marie, Downs Jenny, Choong Catherine S Y
Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, WA 6009, Australia.
The Centre for Child Health Research, The Kids Research Institute Australia, University of Western Australia, Nedlands, WA 6009, Australia.
J Endocr Soc. 2025 Feb 24;9(4):bvaf031. doi: 10.1210/jendso/bvaf031. eCollection 2025 Mar 3.
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.
To characterize REE and other metabolic features in patients with SOD and evaluate relationships with elevated body mass index (BMI).
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).
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, = .068). Those with midline defects had a higher mREE/pREE quotient (91.8% ± 8.1 vs 80.4% ± 11.3, = .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 ( = .044, .042, and .033, respectively).
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.
视隔发育不良（SOD）是先天性垂体功能减退的主要原因，已知高达44%的患儿存在超重和肥胖问题。鉴于下丘脑在激素调节中的作用，我们试图评估静息能量消耗（REE）、食欲和身体活动与SOD之间的关联。
描述SOD患者的REE及其他代谢特征，并评估其与体重指数（BMI）升高的关系。
珀斯儿童医院5岁以上的SOD患儿参与研究。使用CosMED Q-NRG间接测热仪计算平均静息能量消耗（mREE）。将其与基于Schofield方程的预测静息能量消耗（pREE）进行比较，以确定mREE/pREE商。BMI z评分>1被视为升高。父母/照料者完成了一份关于垂体功能、食欲亢进问卷和儿童睡眠障碍量表（SDSC）的问卷。
26名参与者接受了测试（9名女性，平均年龄12.1岁），其中11人体重指数升高，15人存在垂体激素缺乏。平均mREE为1309千卡/天（838 - 1732），mREE/pREE商为88.8%±10.1。与正常BMI者相比，体重指数升高者的mREE/pREE商相似（83.3%±12.5对92.1%±7.2，P = 0.068）。中线缺陷者的mREE/pREE商更高（91.8%±8.1对80.4%±11.3，P = 0.026）。BMI组之间的食欲亢进和SDSC评分相似。在患有多种垂体功能减退、垂体结构缺陷和透明隔正常的儿童中，食欲亢进领域评分更高（分别为P = 0.044、0.042和0.033）。
SOD患儿的mREE低于预期，在有生化或结构垂体改变的患儿中食欲亢进评分更高，这表明下丘脑功能障碍可能导致SOD患儿BMI升高。间接测热法可用于指导SOD患儿超重和肥胖的管理。
