Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants
Objective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is suitable for Japanese patients. Design: We divided...
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| Format: | Article |
| Language: | English |
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Bioscientifica
2022-09-01
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| Series: | Endocrine Connections |
| Subjects: | |
| Online Access: | https://ec.bioscientifica.com/view/journals/ec/11/10/EC-22-0151.xml |
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| author | Nobuo Matsuura Tadashi Kaname Norio Niikawa Yoshihide Ooyama Osamu Shinohara Yukifumi Yokota Shigeyuki Ohtsu Noriyuki Takubo Kazuteru Kitsuda Keiko Shibayama Fumio Takada Akemi Koike Hitomi Sano Yoshiya Ito Kenji Ishikura |
| author_facet | Nobuo Matsuura Tadashi Kaname Norio Niikawa Yoshihide Ooyama Osamu Shinohara Yukifumi Yokota Shigeyuki Ohtsu Noriyuki Takubo Kazuteru Kitsuda Keiko Shibayama Fumio Takada Akemi Koike Hitomi Sano Yoshiya Ito Kenji Ishikura |
| author_sort | Nobuo Matsuura |
| collection | DOAJ |
| description | Objective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is suitable for Japanese patients.
Design: We divided the patients into three groups based on hormone resistance, the number of fingers with short metacarpals, the existence of cone-shaped epiphyses and gene defects.
Methods: We carried out clinical, radiological and genetic evaluations of two patients in group A (iPPSD5), six patients in group B (iPPDS4) and seven patients in group C (iPPSD2).
Results: Group A consisted of two siblings without hormone resistance who had the most severe bone and physical developmental delays. PDE4D gene defects were detected in both cases. Group B consisted of six patients who showed hormone resistance without hypocalcemia. Short metacarpal bones with corn-shaped epiphyses were observed in all patients. In two cases, PRKAR1A gene defects were detected; however, their clinical and radiological features were not identical. The facial dysmorphism and developmental delay were less severe and PRKAR1A gene defects were detected in case B-3. Severe facial dysmorphism and deformity of metacarpal bones were observed, but no gene defect was detected in case B-1. Group C consisted of seven patients with PHP1a, four of whom had maternally inherited heterozygous inactivating mutations in one of the GNAS genes. The clinical and radiological features of the patients in group C were not identical either.
Conclusions: The newly proposed classification is suitable for Japanese patients; however, heterogeneities still existed within groups B and C. |
| first_indexed | 2024-04-12T18:12:58Z |
| format | Article |
| id | doaj.art-63dadf17c2c844cfbeca1f4f723ed485 |
| institution | Directory Open Access Journal |
| issn | 2049-3614 |
| language | English |
| last_indexed | 2024-04-12T18:12:58Z |
| publishDate | 2022-09-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-63dadf17c2c844cfbeca1f4f723ed4852022-12-22T03:21:44ZengBioscientificaEndocrine Connections2049-36142022-09-01111019https://doi.org/10.1530/EC-22-0151Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variantsNobuo Matsuura0Tadashi Kaname1Norio Niikawa2Yoshihide Ooyama3Osamu Shinohara4Yukifumi Yokota5Shigeyuki Ohtsu6Noriyuki Takubo7Kazuteru Kitsuda8Keiko Shibayama9Fumio Takada10Akemi Koike11Hitomi Sano12Yoshiya Ito13Kenji Ishikura14Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanDepartment of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, JapanHealth Sciences University of Hokkaido, Sapporo, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanShinohara Child Clinic, Machida, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanDepartment of Medical Genetics, Kitasato University Graduate School of Medical Science, Sagamihara, JapanMiyanosawa Child Clinic, Sapporo, JapanDepartment of Pediatric, Sapporo City General Hospital, Sapporo, JapanDepartment of Clinical Medicine, Japanese Red Cross Hospital Collage of Nursing, Kitami, JapanDepartment of Pediatrics, Kitasato University School of Medicine, Sagamihara, JapanObjective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is suitable for Japanese patients. Design: We divided the patients into three groups based on hormone resistance, the number of fingers with short metacarpals, the existence of cone-shaped epiphyses and gene defects. Methods: We carried out clinical, radiological and genetic evaluations of two patients in group A (iPPSD5), six patients in group B (iPPDS4) and seven patients in group C (iPPSD2). Results: Group A consisted of two siblings without hormone resistance who had the most severe bone and physical developmental delays. PDE4D gene defects were detected in both cases. Group B consisted of six patients who showed hormone resistance without hypocalcemia. Short metacarpal bones with corn-shaped epiphyses were observed in all patients. In two cases, PRKAR1A gene defects were detected; however, their clinical and radiological features were not identical. The facial dysmorphism and developmental delay were less severe and PRKAR1A gene defects were detected in case B-3. Severe facial dysmorphism and deformity of metacarpal bones were observed, but no gene defect was detected in case B-1. Group C consisted of seven patients with PHP1a, four of whom had maternally inherited heterozygous inactivating mutations in one of the GNAS genes. The clinical and radiological features of the patients in group C were not identical either. Conclusions: The newly proposed classification is suitable for Japanese patients; however, heterogeneities still existed within groups B and C.https://ec.bioscientifica.com/view/journals/ec/11/10/EC-22-0151.xmlpde4d gene defectsprkar1a gene defectsacrodysostosisgnas genepseudohypoparathyroidism |
| spellingShingle | Nobuo Matsuura Tadashi Kaname Norio Niikawa Yoshihide Ooyama Osamu Shinohara Yukifumi Yokota Shigeyuki Ohtsu Noriyuki Takubo Kazuteru Kitsuda Keiko Shibayama Fumio Takada Akemi Koike Hitomi Sano Yoshiya Ito Kenji Ishikura Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants Endocrine Connections pde4d gene defects prkar1a gene defects acrodysostosis gnas gene pseudohypoparathyroidism |
| title | Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants |
| title_full | Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants |
| title_fullStr | Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants |
| title_full_unstemmed | Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants |
| title_short | Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants |
| title_sort | acrodysostosis and pseudohypoparathyroidism php adaptation of japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants |
| topic | pde4d gene defects prkar1a gene defects acrodysostosis gnas gene pseudohypoparathyroidism |
| url | https://ec.bioscientifica.com/view/journals/ec/11/10/EC-22-0151.xml |
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