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

Yuichi Miyakawa; Kei Takasawa; Yohei Matsubara; Kenji Ihara; Yoshiaki Ohtsu; Hotaka Kamasaki; Kazuteru Kitsuda; Hironori Kobayashi; Mari Satoh; Sinichiro Sano; Sumito Dateki; Hiroshi Mochizuki; Ichiro Yokota; Yukihiro Hasegawa; Kenichi Kashimada

doi:10.1507/endocrj.EJ18-0326

ORIGINAL

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

Yuichi Miyakawa, Kei Takasawa, Yohei Matsubara, Kenji Ihara, Yoshiaki Ohtsu, Hotaka Kamasaki, Kazuteru Kitsuda, Hironori Kobayashi, Mari Satoh, Sinichiro Sano, Sumito Dateki, Hiroshi Mochizuki, Ichiro Yokota, Yukihiro Hasegawa, Kenichi Kashimada

Author information

Yuichi Miyakawa
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan
Kei Takasawa
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan
Yohei Matsubara
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan
Kenji Ihara
Department of Pediatrics, Oita University Faculty of Medicine, Oita 879-5593, Japan
Yoshiaki Ohtsu
Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma 371-8511, Japan
Hotaka Kamasaki
Department of Pediatrics, Sapporo Medical University School of Medicine, Hokkaido 060-8543, Japan
Kazuteru Kitsuda
Department of Pediatrics, Kitasato University, Kanagawa 252-0375, Japan
Hironori Kobayashi
Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 690-8501, Japan
Mari Satoh
Department of Pediatrics, Toho University Omori Medical Center, Tokyo 143-8541, Japan
Sinichiro Sano
Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka 431-3192, Japan
Sumito Dateki
Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan
Hiroshi Mochizuki
Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama 330-8777, Japan
Ichiro Yokota
Division of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Kagawa 765-8507, Japan
Yukihiro Hasegawa
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan
Kenichi Kashimada
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan

Keywords: Pseudohypoparathyroidism, G(s)alpha, Mental retardation, Intellectual disability, Language delay

JOURNAL FREE ACCESS FULL-TEXT HTML

2019 Volume 66 Issue 3 Pages 215-221

DOI https://doi.org/10.1507/endocrj.EJ18-0326

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Abstract

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.

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