A case of inherited GH deficiency with a 6.7-kb deletion of GH-1 gene

Akira Sugawara, Kunihiko Hanew, Masamichi Ogawa, Takashi Kamijo, Aki Tanaka, Keiichi Itoi, Yutaka Igarashi, Noritaka Iwatani, Hitoshi Kohno, Junichi Koga, Sadayoshi Ito

研究成果: Article査読

2 被引用数 (Scopus)


We report a case of inherited isolated GH deficiency (IGHD) type IA. The patient (S.A.) is a 15-year-old boy with a chief complaint of short stature. His parents were second cousins. He was delivered of normal size without asphyxia or fetal distress. His growth retardation became prominent 3 months after birth. When he was admitted to Tohoku University Hospital at the age of 3 years and 1 month, his height was 68.3 cm (· ·7.1 SD), his body wt was 7.5 kg, and his bone age was 10 months. His plasma GH level measured with a high sensitivity GH immunoradiometric assay (IRMA) kit was below the detection level (6 pg/ml) either after sequential 3 day administrations of GH releasing hormone (GHRH) followed by arginine infusion, or after GH releasing peptide (GHRP) administration. His other endocrine functions remained normal. No abnormalities were observed in his hypothalamopituitary region by magnetic resonance imaging. Among 5 patients with IGHD whose GH levels were undetectable even after the stimulation with GHRH plus arginine, 2 patients (including the above case) still did not show any response to GHRP. Genetic analyses of the GH-1 gene were undergone in these 5 patients, and revealed that only the patient S.A. had a homozygous 6.7-kb GH-1 gene deletion. His parents, sisters, and paternal grandfather were heterozygotes. The patient was therefore diagnosed as IGHD type IA. We consider that the measurement of plasma GH with the high sensitivity GH IRMA kit after strong GH provocation tests may be useful for the screening of IGHD type IA. Copyright

ジャーナルClinical Pediatric Endocrinology
出版ステータスPublished - 1998

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学


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