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An Adult Female of Isolated Growth Hormone Deficiency (Type 1A) Detected by Polymerase Chain Reaction: A Patient Report
Toshiaki Ikeda, Hidemi Teramoto, Yoshimaro Yamamoto, Noriko Nakada, Keiko Nagata, Yukio Matsumoto, Kazuyuki Ishitobi* and Takao Sasaki
Third Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago 683 and *Tottori University Health Center, Tottori 680, Japan
Isolated growth hormone deficiency (IGHD) 1A is an uncommon cause of partial hypopituitarism and is associated with deletions of growth hormone (GH)-1 gene. Using polymerase chain reaction (PCR), a 34-year-old Japanese female with extremely short stature was examined to detect GH-1 gene deletions. The SmaI-digested PCR products were subjected to electrophoresis in 2% agarose gel and visualized by ethidium bromide staining. The proband had 1470 and 448 base pair (bp) fragments, whereas her parents and brother had 1900, 1470, 761, 712 and 448 bp fragments. These results showed that the proband was heterozygous for 6.7-kilobase (kb) deletions of genomic DNA that contained GH-1 gene, and that her parents and brother were heterozygous for this GH-1 gene deletion. The PCR method provides an alternative to Southern blotting to facilitate and simplify detection of GH-1 gene.
Key words: isolated growth hormone deficiency; growth hormone-1 gene; polymerase chain reaction