Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan

• Nagasaki Keisuke

  Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Kubota Takuo

  Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Kobayashi Hironori

  Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Sawada Hirotake

  Department of Reproductive and Developmental Medicine, University of Miyazaki, Miyazaki, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Numakura Chikahiko

  Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Harada Shohei

  Faculty of Child Studies, Seitoku University, Chiba, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Takasawa Kei

  Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Minamitani Kanshi

  Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Ishii Tomohiro

  Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Okada Satoshi

  Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Kamasaki Hotaka

  Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Sugihara Shigetaka

  Department of Pediatrics, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Adachi Masanori

  Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

• Tajima Toshihiro

  Department of Pediatrics, Jichi Children’s Medical Center Tochigi, Tochigi, Japan The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology

Abstract

Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. The purpose of this study is to review clinical features regarding SOD patients with hypopituitarism in Japan. In this study, 21 patients with SOD were identified by a questionnaire survey for congenital central hypothyroidism. All 3 symptoms of SOD, agenesis of the septum pellucidum, optic nerve hypoplasia, and endocrine abnormalities, were noted in 8 of the 21 patients. Various combinations of pituitary hormone deficiencies were observed in patients with SOD, although SOD is a rare, heterogeneous, and phenotypically variable disorder, some patients develop hypoglycemia and convulsions after birth, and early intervention with hormone replacement is necessary in severe cases. In addition, 14 cases were complicated by both developmental delay and epilepsy, and 16 cases involved eye abnormalities. Therefore, in addition to an early endocrinological diagnosis and hormone replacement, consultation with both pediatric neurologists and pediatric ophthalmologists is necessary.

Journal

• Clinical Pediatric Endocrinology

  Clinical Pediatric Endocrinology 26 (4), 207-213, 2017

  The Japanese Society for Pediatric Endocrinology

Keywords

• septo-optic dysplasia
• combined pituitary hormone deficiency
• optic nerve hypoplasia
• agenesis of the septum pellucidum
• congenital central hypothyroidism

Details

• CRID: 1390001204482725120
• NII Article ID: 130006105766
• DOI: 10.1297/cpe.26.207
• ISSN: 13477358
• ISSN: 09185739
• Web Site: https://www.jstage.jst.go.jp/article/cpe/26/4/26_2017-0017/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2018227332
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed