Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan

Naoko Toda, Kenji Ihara, Kanako Kojima-Ishii, Masayuki Ochiai, Kazuhiro Okubo, Yutaka Kawamoto, Yoshinori Kohno, Sakae Kumasaka, Akihiko Kawase, Yasuhisa Ueno, Takeshi Futatani, Tokuo Miyazawa, Yuko Nagaoki, Setsuko Nakata, Maiko Misaki, Hiroko Arai, Masahiko Kawai, Maki Sato, Yukari Yada, Nobuhiro TakahashiAtsushi Komatsu, Kanemasa Maki, Shinichi Watabe, Yutaka Sumida, Makoto Kuwashima, Hiroshi Mizumoto, Kazuo Sato, Toshiro Hara

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions. As a result, 222 departments or hospitals returned the questionnaires and the total numbers of BWS, SS, and KS patients were 113, 88, and 51, respectively. We sent a secondary questionnaire to 31 institutions where patients with these syndromes presented with HH during infancy. The secondary questionnaires were returned from the institutions and the numbers of patients were 16 for BWS, 9 for SS, and 3 for KS, respectively. Then, we compared the clinical characteristics of infants suffering from transient HH with and without these dysmorphic syndromes. As a result, BWS, SS, and KS patients showed significantly larger body size, lower Apgar scores, higher insulin levels at HH, and shorter durations of HH than non-dysmorphic infants with transient HH. We propose that a careful observation for the signs of HH, even if not specific to the syndromes, is important for the diagnosis of patients with BWS, SS, and KS in the postnatal period.

Original languageEnglish
Pages (from-to)360-367
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number2
DOIs
Publication statusPublished - Feb 1 2017

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Sotos Syndrome
Hypoglycemia
Japan
Surveys and Questionnaires
Kabuki syndrome
Congenital Hyperinsulinism
Perinatal Care
Apgar Score
Hospital Departments
Body Size

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes : A nationwide survey in Japan. / Toda, Naoko; Ihara, Kenji; Kojima-Ishii, Kanako; Ochiai, Masayuki; Okubo, Kazuhiro; Kawamoto, Yutaka; Kohno, Yoshinori; Kumasaka, Sakae; Kawase, Akihiko; Ueno, Yasuhisa; Futatani, Takeshi; Miyazawa, Tokuo; Nagaoki, Yuko; Nakata, Setsuko; Misaki, Maiko; Arai, Hiroko; Kawai, Masahiko; Sato, Maki; Yada, Yukari; Takahashi, Nobuhiro; Komatsu, Atsushi; Maki, Kanemasa; Watabe, Shinichi; Sumida, Yutaka; Kuwashima, Makoto; Mizumoto, Hiroshi; Sato, Kazuo; Hara, Toshiro.

In: American Journal of Medical Genetics, Part A, Vol. 173, No. 2, 01.02.2017, p. 360-367.

Research output: Contribution to journalArticle

Toda, N, Ihara, K, Kojima-Ishii, K, Ochiai, M, Okubo, K, Kawamoto, Y, Kohno, Y, Kumasaka, S, Kawase, A, Ueno, Y, Futatani, T, Miyazawa, T, Nagaoki, Y, Nakata, S, Misaki, M, Arai, H, Kawai, M, Sato, M, Yada, Y, Takahashi, N, Komatsu, A, Maki, K, Watabe, S, Sumida, Y, Kuwashima, M, Mizumoto, H, Sato, K & Hara, T 2017, 'Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan', American Journal of Medical Genetics, Part A, vol. 173, no. 2, pp. 360-367. https://doi.org/10.1002/ajmg.a.38011
Toda, Naoko ; Ihara, Kenji ; Kojima-Ishii, Kanako ; Ochiai, Masayuki ; Okubo, Kazuhiro ; Kawamoto, Yutaka ; Kohno, Yoshinori ; Kumasaka, Sakae ; Kawase, Akihiko ; Ueno, Yasuhisa ; Futatani, Takeshi ; Miyazawa, Tokuo ; Nagaoki, Yuko ; Nakata, Setsuko ; Misaki, Maiko ; Arai, Hiroko ; Kawai, Masahiko ; Sato, Maki ; Yada, Yukari ; Takahashi, Nobuhiro ; Komatsu, Atsushi ; Maki, Kanemasa ; Watabe, Shinichi ; Sumida, Yutaka ; Kuwashima, Makoto ; Mizumoto, Hiroshi ; Sato, Kazuo ; Hara, Toshiro. / Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes : A nationwide survey in Japan. In: American Journal of Medical Genetics, Part A. 2017 ; Vol. 173, No. 2. pp. 360-367.
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AU - Toda, Naoko

AU - Ihara, Kenji

AU - Kojima-Ishii, Kanako

AU - Ochiai, Masayuki

AU - Okubo, Kazuhiro

AU - Kawamoto, Yutaka

AU - Kohno, Yoshinori

AU - Kumasaka, Sakae

AU - Kawase, Akihiko

AU - Ueno, Yasuhisa

AU - Futatani, Takeshi

AU - Miyazawa, Tokuo

AU - Nagaoki, Yuko

AU - Nakata, Setsuko

AU - Misaki, Maiko

AU - Arai, Hiroko

AU - Kawai, Masahiko

AU - Sato, Maki

AU - Yada, Yukari

AU - Takahashi, Nobuhiro

AU - Komatsu, Atsushi

AU - Maki, Kanemasa

AU - Watabe, Shinichi

AU - Sumida, Yutaka

AU - Kuwashima, Makoto

AU - Mizumoto, Hiroshi

AU - Sato, Kazuo

AU - Hara, Toshiro

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