Familial Isolated Growth Hormone Deficiency: Genetics and Pathophysiology.
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Accession number;02A0594707
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| Title;Familial Isolated Growth Hormone Deficiency: Genetics and Pathophysiology. |
| Author;
HAYASHI Y
(Nagoya Univ., Nagoya, Jpn)
KAMIJO T
(Kamiida Daiichi General Hospital, Nagoya, Jpn)
OGAWA M
(Ogawa Clinic, Nagoya, Jpn)
SEO H
(Nagoya Univ., Nagoya, Jpn)
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Journal Title;Endocr J
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Journal Code:F0625A
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ISSN:0918-8959
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VOL.49;NO.3;PAGE.265-272(2002)
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| Figure&Table&Reference;FIG.4, REF.57 |
| Pub. Country;Japan |
| Language;English |
| Abstract;Since this review focused on the pathogenesis of hereditary IGHD, we did not describe the mutations in GH-I gene producing bioinactive GH molecules which also causes short statures [45], Nor did we describe mutations in tissue specific transcription factors, which result in combined pituitary hormone deficiency [46-54]. Mutations in GH-I gene and GHRHR gene have been identified in familial as well as sporadic cases with IGHD. In addition to homozygous or compound heterozygous mutations identified in sporadic cases, de novo mutations in intron 3 of GH-I gene resulting in type II IGHD have been frequently identified. Thus, it is important to screen possible mutations in GH-I gene in patients with IGHD, even in sporadic cases. Although mutations in CHRHR gene result in IGHD, no mutation in growth hormone releasing hormone has been identified so far [55]. There appears to be a number of families with IGHD, in which mutations in GH-I, GHRHR and GRF genes and/or linkage to these loci were excluded ([55]; manuscript in preparation). We expect that whole genome linkage analysis in large families with IGHD and the progress of the human genome project [56,57] should unveil genes involved in somatotroph development and GH synthesis. (author abst.) |
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