Clinical Characteristics, Etiologies and Pathophysiology of Patients with Severe Short Stature with Severe GH Deficiency: Questionnaire Study on the Data Registered with the Foundation for Growth Science, Japan

• HANEW Kunihiko

  Hanew Endocrine Clinic

• TACHIBANA Katsuhiko

  JCR Pharmaceuticals Co.

• YOKOYA Susumu

  Toranomon Hospital

• FUJIEDA Kenji

  Asahikawa Medical College

• TANAKA Toshiaki

  National Research Institute for Child Health and Development

• IGARASHI Yutaka

  Igarashi Children's Clinic

• SHIMATSU Akira

  Kyoto National Hospital

• TANAKA Hiroyuki

  Okayama University

• TANIZAWA Takakuni

  Hyogo College of Medicine

• TERAMOTO Akira

  Nippon Medical College

• NISHI Yoshikazu

  Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital

• HASEGAWA Yukihiro

  Tokyo Metropolitan Kiyose Children' Hospital

• HIZUKA Naomi

  Tokyo Women's Medical University

• HIRANO Takeki

  Hirano Children's Clinic

• FUJITA Keinosuke

  Osaka City General Hospital

Abstract

In this study, we sent questionnaires to doctors treating severe short stature with severe GH deficiency (GHD) (height SDS (HtSDS) below –4 and all peak GH to provocative stimuli below 2 μ/L) (abbreviated as Severe Case), and obtained effective replies of 51 cases. The clinical characteristics, etiologies, and pathophysiology of these patients were examined. Among the 51 Severe Cases no consanguinity was observed, 44 were IGHD (24 males and 20 females), 3 were GH-1 gene deletion, 2 were Pit-1 gene mutation, and 2 were achondroplasia. HtSDS in these Severe Cases was already remarkably low at 12 (–3.0) and 24 months old (–3.9), while their birth weight and birth length were within normal ranges. Among 44 patients with IGHD, 12 were isolated GHD, and the remaining 32 were combined pituitary hormone deficiency (CPHD). Pituitary MRI was undergone in 25 idiopathic GHD, and abnormal findings (pituitary atrophy, interruption of stalk, and ectopic posterior lobe) were observed in 21 patients with CPHD. More than half of these patients had the history of breech delivery. Three patients with GH-1 gene mutation showed normal pituitary MRI, whereas one of two patients with Pit-1 mutation showed pituitary atrophy and narrowing of pituitary stalk. In conclusion, Severe Cases tended to have CPHD, and the incidence of Severe Case was only 0.6% of total IGHD. Although GHD due to genetic disorders is considered to be extremely rare (0.06% of total IGHD), the incidence reaches high levels (9.8%) among Severe Cases. Growth disorders in these Severe Cases seem to occur soon after delivery. Much earlier diagnosis and hGH treatment are desirable to attain better final height in the Severe Cases. GH-1 and Pit-1 gene analyses are crucial, when genetic abnormalities other than achondroplasia are suspected.<br>

Journal

• Endocrine Journal

  Endocrine Journal 53 (2), 259-265, 2006

  The Japan Endocrine Society

Keywords

• Questionnaire
• Severe short stature
• Severe GHD
• Idiopathic GHD

Details

• CRID: 1390282681277282048
• NII Article ID: 10017493738
• NII Book ID: AA10901436
• DOI: 10.1507/endocrj.53.259
• COI: 1:STN:280:DC%2BD283ht1Kiuw%3D%3D
• ISSN: 13484540
• ISSN: 09188959
• Web Site: http://www.jstage.jst.go.jp/article/endocrj/53/2/53_2_259/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2006296990
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
• Abstract License Flag: Disallowed