Tamaroff Jaclyn, Shoemaker Ashley H
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37212, USA.
J Clin Med. 2025 Jul 29;14(15):5345. doi: 10.3390/jcm14155345.
: Pseudohypoparathyroidism (PHP) is a group of genetic disorders characterized by end-organ resistance to multiple hormones, short stature, brachydactyly, subcutaneous ossifications, obesity, and developmental delays. The tissue specific imprinting of in the hypothalamus may lead to different eating behavior phenotypes in maternally inherited (PHP1A, PHP1B) vs. paternally inherited (PPHP) variants. In this exploratory study, we aimed to evaluate differences in eating behaviors in a cohort of patients with PHP1A, PPHP and PHP1B. : Assessments included caregiver-reported measures (hyperphagia questionnaire, children's eating behavior questionnaire, child feeding questionnaire) and self-reported measures (three factor eating behavior questionnaire). : A total of 58 patients with PHP1A, 13 patients with PPHP and 10 patients with PHP1B contributed data, along with 124 obese pediatric controls. An increased risk of obesity was found in PHP1A vs. PPHP (adult body mass index (BMI) 39.8 ± 8.7 vs. 30.2 ± 7.4 kg/m, = 0.03). Parents reported significantly earlier onset of interest in food in children with PHP1A (2.0 ± 2.3 years) and PHP1B (1.1 ± 1.3 years) compared with controls (5.2 ± 3.2 years, 0.001). Measures of hyperphagia, satiety and other feeding behaviors were all similar to controls. The highest hyperphagia questionnaire scores were seen prior to adolescence. In a multi-year, longitudinal assessment of 11 pediatric patients with PHP1A, hyperphagia scores were stable and 25% showed an improvement in symptoms. : Patients with PHP1A/1B may have hyperphagia symptoms from a young age but they do not worsen over time. Patients may overeat when allowed access to food, but do not usually have disruptive food seeking behaviors. Early diagnosis can give clinicians the opportunity to provide anticipatory diagnosis on the increased risk of obesity in PHP1A/1B and need for scheduled meals and controlled portions. Further studies with larger cohorts are needed to confirm these findings.
假性甲状旁腺功能减退症（PHP）是一组遗传性疾病，其特征为终末器官对多种激素抵抗、身材矮小、短指畸形、皮下骨化、肥胖及发育迟缓。下丘脑特定组织的印记可能导致母系遗传（PHP1A、PHP1B）与父系遗传（PPHP）变异体出现不同的饮食行为表型。在这项探索性研究中，我们旨在评估PHP1A、PPHP和PHP1B患者队列中饮食行为的差异。评估包括照料者报告的测量方法（多食问卷、儿童饮食行为问卷、儿童喂养问卷）和自我报告的测量方法（三因素饮食行为问卷）。共有58例PHP1A患者、13例PPHP患者和10例PHP1B患者以及124名肥胖儿童对照者提供了数据。与PPHP相比，PHP1A患者肥胖风险增加（成人身体质量指数（BMI）分别为39.8±8.7与30.2±7.4kg/m²，P = 0.03）。与对照组（5.2±3.2岁，P<0.001）相比，PHP1A患者（2.0±2.3岁）和PHP1B患者（1.1±1.3岁）的父母报告孩子对食物产生兴趣的时间明显更早。多食、饱腹感及其他喂养行为的测量结果均与对照组相似。多食问卷得分最高出现在青春期之前。在对11例PHP1A儿科患者进行的多年纵向评估中，多食得分稳定，25%的患者症状有所改善。PHP1A/1B患者可能自幼就有多食症状，但症状不会随时间加重。患者在有机会获取食物时可能会过度进食，但通常不会有扰乱性的觅食行为。早期诊断可为临床医生提供机会，对PHP1A/1B患者肥胖风险增加以及定时进餐和控制食量的需求进行预期诊断。需要更大队列的进一步研究来证实这些发现。
