Science Links Japan | Endocrine. Interesting case. Interbrain and hypophysis. Sibling cases of GH isolated deficiency type II (IVS3+28G>A) exhibiting the partial GH hyposecretion.

Endocrine. Interesting case. Interbrain and hypophysis. Sibling cases of GH isolated deficiency type II (IVS3+28G>A) exhibiting the partial GH hyposecretion.

Accession number;03A0096376

Title;Endocrine. Interesting case. Interbrain and hypophysis. Sibling cases of GH isolated deficiency type II (IVS3+28G>A) exhibiting the partial GH hyposecretion.

Author; HANAKI KEIICHI (Tottori Univ., Fac. of Med.) HIJIMA ARINORI (Tottori Univ., Fac. of Med.) KINOSHITA TOMOE (Tottori Univ., Fac. of Med.) NAGAISHI JUN'ICHI (Tottori Univ., Fac. of Med.) TSUKUDA MUNENORI (Tottori Univ., Fac. of Med.) SUGIMOTO MORIHARU (Tottori Univ., Fac. of Med.) KANZAKI SUSUMU (Tottori Univ., Fac. of Med.)

Journal Title;Clinical Endocrinology

Journal Code:Z0648A

ISSN:0045-7167

VOL.50;NO.;PAGE.31-34(2002)

Figure&Table&Reference;FIG.4, REF.4

Pub. Country;Japan

Language;Japanese

Abstract;Two sibling cases (children sisters) of GH isolated deficiency type II (IVS3+28G>A) exhibiting the partial GH hyposecretion are reported. Secretion increase of GH was partially observed in the GH stimulated secretion test by the drug,and the good response to GH treatment was shown. In the 2-year-old female child case, the mutation of G.RAR.A was observed in the 28th bases of IVS3. As the result of the gene retrieval, sister cases and their father revealed the heterozygote of the same mutation and the mother proved to be normal.

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