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

Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)207-213
Number of pages7
JournalClinical Pediatric Endocrinology
Volume26
Issue number4
DOIs
Publication statusPublished - 2017

Fingerprint

Septo-Optic Dysplasia
Congenital Hypothyroidism
Japan
Septum Pellucidum
Hypopituitarism
Optic Nerve
Eye Abnormalities
Hormones
Pediatrics
Pituitary Hormones
Hypoglycemia
Early Diagnosis
Epilepsy
Seizures
Referral and Consultation
Parturition

Keywords

  • Agenesis of the septum pellucidum
  • Combined pituitary hormone deficiency
  • Congenital central hypothyroidism
  • Optic nerve hypoplasia
  • Septo-optic dysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Nagasaki, K., Kubota, T., Kobayashi, H., Sawada, H., Numakura, C., Harada, S., ... Tajima, T. (2017). Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. Clinical Pediatric Endocrinology, 26(4), 207-213. https://doi.org/10.1297/cpe.26.207

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. / Nagasaki, Keisuke; Kubota, Takuo; Kobayashi, Hironori; Sawada, Hirotake; Numakura, Chikahiko; Harada, Shohei; Takasawa, Kei; Minamitani, Kanshi; Ishii, Tomohiro; Okada, Satoshi; Kamasaki, Hotaka; Sugihara, Shigetaka; Adachi, Masanori; Tajima, Toshihiro.

In: Clinical Pediatric Endocrinology, Vol. 26, No. 4, 2017, p. 207-213.

Research output: Contribution to journalArticle

Nagasaki, K, Kubota, T, Kobayashi, H, Sawada, H, Numakura, C, Harada, S, Takasawa, K, Minamitani, K, Ishii, T, Okada, S, Kamasaki, H, Sugihara, S, Adachi, M & Tajima, T 2017, 'Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan', Clinical Pediatric Endocrinology, vol. 26, no. 4, pp. 207-213. https://doi.org/10.1297/cpe.26.207
Nagasaki, Keisuke ; Kubota, Takuo ; Kobayashi, Hironori ; Sawada, Hirotake ; Numakura, Chikahiko ; Harada, Shohei ; Takasawa, Kei ; Minamitani, Kanshi ; Ishii, Tomohiro ; Okada, Satoshi ; Kamasaki, Hotaka ; Sugihara, Shigetaka ; Adachi, Masanori ; Tajima, Toshihiro. / Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. In: Clinical Pediatric Endocrinology. 2017 ; Vol. 26, No. 4. pp. 207-213.
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