Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood

Endocrine journal

Yuichi Miyakawa¹  Yohei Matsubara²  Hironori Kobayashi³  Yoshiaki Ohtsu⁴  Mari Satoh⁵  Kei Takasawa⁶  Kenji Ihara⁷  Hotaka Kamasaki⁸  Kazuteru Kitsuda⁹  Sinichiro Sano^1,10  Hiroshi Mochizuki^1,11  Sumito Dateki^1,12 

[1] Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan;Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma 371-8511, Japan;Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka 431-3192, Japan;Department of Pediatrics, Kitasato University, Kanagawa 252-0375, Japan;Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan;Department of Pediatrics, Oita University Faculty of Medicine, Oita 879-5593, Japan;Department of Pediatrics, Sapporo Medical University School of Medicine, Hokkaido 060-8543, Japan;Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 690-8501, Japan;Department of Pediatrics, Toho University Omori Medical Center, Tokyo 143-8541, Japan;Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama 330-8777, Japan;Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan;Division of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Kagawa 765-8507, Japan

关键词: Pseudohypoparathyroidism;    G(s)alpha;    Mental retardation;    Intellectual disability;    Language delay;   

DOI  :  10.1507/endocrj.EJ18-0326

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

Pseudohypoparathyroidism type 1A (PHP1A) is characterized by resistance to multiple hormones, the Albright Hereditary Osteodystrophy phenotype, obesity, and developmental delay. Developmental delay usually appears prior to hypocalcemia due to parathyroid hormone resistance and could be a clinically important feature for early diagnosis of PHP1A. To date, however, the details have not been documented. With regard to developmental delays, we conducted a multicenter retrospective study of 22 PHP1A patients from 18 families who were diagnosed clinically or genetically from 2005 to 2015. For quantitative analysis of their development, we calculated the ratios of the milestone ages of the patients to those in normal reference data. The ratio of the ages with respect to speech development, i.e., speaking a first meaningful word (median: 1.67), was significantly higher than that for gross motor development, walking unassisted (median: 1.34). The ratio of age at stringing a two-word sentence (median: 1.32) was significantly lower than that of saying a first word (median: 1.84). Ten out of 11 (91%) patients exhibited two or three of the following clinical phenotypes: developmental delay, obesity, and hyperthyrotropinemia. These results suggest two possible clinical features of developmental delays in PHP1A patients: developmental delay is more obvious in speech acquisition than in gross motor skills, and speech delays could be attenuated during later childhood. Further, the presence of multiple of three clinical symptoms could be an important indicator to differentiate the diagnosis of PHP1A during early childhood.

【 授权许可】

Unknown