Isolated Growth Hormone Deficiency Type 1A without Apparent Growth Hormone 1 Gene Deletion

Shinya Tamai, Nobutake Matsuo, Seiji Sato, Jun Kudoh, Nobuyoshi Shimizu

Research output: Contribution to journalArticlepeer-review

Abstract

We document a Japanese girl who, without apparent growth hormone (GH)-l gene deletion, had a clinical phenotype identical to that of isolated growth hormone deficiency type 1A (IGHD-1A). The restriction fragment length polymorphism (RFLP) linkage analysis of the patient and her family members indicates that her GH-1 gene is structurally intact, though the molecular basis of her GH deficiency remains to be determined. We suspect that several congenital disorders other than GH-1 gene mutations may be responsible for IGHD-1A phenotype.

Original languageEnglish
Pages (from-to)105-111
Number of pages7
Journalclinical pediatric endocrinology
Volume3
Issue number2
DOIs
Publication statusPublished - 1994

Keywords

  • growth hormone
  • growth hormone-1 gene
  • growth hormone-releasing factor gene
  • isolated growth hormone deficiency type 1A

ASJC Scopus subject areas

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

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