title: Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.
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. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Toda
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.|Faculty of Medicine, Department of Pediatrics, Oita University, Oita, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
authors.forename: Kanako
authors.initials: K
authors.lastname: Kojima-Ishii
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Ochiai
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Ohkubo
authors.affiliation: Department of Neonatology, Kawasaki Medical School Hospital, Okayama, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kawamoto
authors.affiliation: Department of Neonatology, Gifu Prefectural General Medical Center, Gifu, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Kohno
authors.affiliation: Department of Neonatology, Japanese Red Cross Katsushika Maternity Hospital, Tokyo, Japan.
authors.forename: Sakae
authors.initials: S
authors.lastname: Kumasaka
authors.affiliation: Department of Neonatology, Kumamoto City Hospital, Kumamoto, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kawase
authors.affiliation: Department of Neonatology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Ueno
authors.affiliation: Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Futatani
authors.affiliation: Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Tokuo
authors.initials: T
authors.lastname: Miyazawa
authors.affiliation: Department of Pediatrics, St Luke's International Hospital, Tokyo, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Nagaoki
authors.affiliation: Department of Pediatrics, Iida Municipal Hospital, Iida, Japan.
authors.forename: Setsuko
authors.initials: S
authors.lastname: Nakata
authors.affiliation: Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
authors.forename: Maiko
authors.initials: M
authors.lastname: Misaki
authors.affiliation: Department of Neonatology, Toho University Omori Medical Center, Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Arai
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kawai
authors.affiliation: Department of Pediatrics, Fukushima Medical University, Fukushima, Japan.
authors.forename: Maki
authors.initials: M
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Yukari
authors.initials: Y
authors.lastname: Yada
authors.affiliation: Department of Pediatrics, Tenshi Hospital, Social Medical Corporation BOKOI, Sapporo, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Takahashi
authors.affiliation: Department of Obstetrics and Gynecology, The University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Komatsu
authors.affiliation: Department of Pediatrics, Yokkaichi Municipal Hospital, Yokkaichi, Japan.
authors.forename: Kanemasa
authors.initials: K
authors.lastname: Maki
authors.affiliation: Department of Neonatal Intensive Care, Kurashiki Central Hospital, Kurashiki, Japan.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Watabe
authors.affiliation: Department of Pediatrics, Rinku General Medical Center, Izumisano, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Sumida
authors.affiliation: Department of Pediatrics, Kiryu Kosei General Hospital, Kiryu, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Kuwashima
authors.affiliation: Department of Pediatrics, Medical Research Institute, Kitano Hospital, Osaka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mizumoto
authors.affiliation: Department of Pediatrics, National Kyushu Medical Center, Fukuoka, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology; D001034:Apgar Score; D001506:Beckwith-Wiedemann Syndrome / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005820:Genetic Testing; D006402:Hematologic Diseases / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology; D006403:Hematologic Tests; D006801:Humans; D006946:Hyperinsulinism / Q000097:blood*; D007003:Hypoglycemia / Q000097:blood*; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D010641:Phenotype; D011159:Population Surveillance; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology; D058495:Sotos Syndrome / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology; D011795:Surveys and Questionnaires; D015837:Vestibular Diseases / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology
keywords: Beckwith-Wiedemann; Kabuki; Sotos; hypoglycemia; neonatal hyperinsulinemia