Pattern of height and weight development in a large cohort of underage Chinese pseudohypoparathyroidism patients from a single center

Objective: Pseudohypoparathyroidism (PHP) is a rare disorder characterized by hypocalcemia and elevated PTH. Although short stature is a key feature, especially in PHP type 1 (PHP1), growth data in Chinese patients remain limited. Methods: Clinical data, including height, age, and biochemical indices, were retrospectively collected from PHP1 patients at Peking Union Medical College Hospital. Molecular diagnosis was performed using MS-MLPA, Sanger sequencing, and WES. Growth charts for height, weight, and BMI in underage patients were constructed. Results: A total of 92 PHP1 patients (58 males, 34 females) including 32 pseudohypoparathyroidism type 1A (PHP-1A), 49 sporadic pseudohypoparathyroidism type 1B (PHP-S1B), and 11 autosomal dominant pseudohypoparathyroidism type 1B (PHP-AD1B) were recruited. Growth velocity peaked at 12 years in males and 5 years in females, with height plateau at 14 and 13 years. Adult height was 166.6 cm (SDS -1.04) in males and 155.0 cm (SDS -0.52) in females. PHP-1A patients had significantly shorter adult height than PHP-1B (male: 157.0±6.9 vs. 171.9±8.9, P=0.004; female: 146.8±10.2 vs. 156.2±4.9, P=0.007). PHP-1A showed early-onset weight gain from age 1, persisting into adulthood. Adult Wt-SDS was 1.67 vs. 1.55 in males and 2.00 vs. 3.10 in females (PHP-1A vs. PHP-1B). Weight curves exceeded population P50 in most groups, with no significant differences in adult weight, Wt-SDS, BMI, or obesity prevalence between subtypes. Conclusions: Chinese PHP1 patients show early growth plateau and short stature, more severe in PHP-1A. Obesity varies by subtype and sex, with earlier and more persistent weight gain in PHP-1A. These growth charts may aid clinical management.