دورية أكاديمية
Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.
| العنوان: | Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus. |
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| المؤلفون: | Keselman A; División Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., Scaglia PA, Rodríguez Prieto MS, Ballerini MG, Rodríguez ME, Ropelato MG, Bergadá I, Jasper HG, Domené HM |
| المصدر: | Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2012 Nov; Vol. 56 (8), pp. 558-63. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Sociedade Brasileira de Endocrinologia e Metabologia Country of Publication: Brazil NLM ID: 0403437 Publication Model: Print Cited Medium: Internet ISSN: 1677-9487 (Electronic) Linking ISSN: 00042730 NLM ISO Abbreviation: Arq Bras Endocrinol Metabol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Rio de Janeiro : Sociedade Brasileira de Endocrinologia e Metabologia |
| مواضيع طبية MeSH: | Dwarfism, Pituitary/*genetics , Human Growth Hormone/*genetics , Locus Control Region/*genetics , Sequence Deletion/*genetics, Base Sequence ; Female ; Heterozygote ; Humans ; Infant, Newborn ; Phenotype ; Polymerase Chain Reaction ; Severity of Illness Index |
| مستخلص: | Isolated growth hormone deficiency (IGHD) may result from deletions/mutations in either GH1 or GHRHR genes. The objective of this study was to characterize the molecular defect in a girl presenting IGHD. The patient was born at 41 weeks of gestation from non-consanguineous parents. Clinical and biochemical evaluation included anthropometric measurements, evaluation of pituitary function, IGF-I and IGFBP-3 levels. Molecular characterization was performed by PCR amplification of GH1 gene and SmaI digestion of two homologous fragments flanking the gene, using genomic DNA from the patient and her parents as templates. At 1.8 years of age the patient presented severe growth retardation (height 61.2 cm, -7.4 SDS), truncal obesity, frontal bossing, doll face, and acromicria. MRI showed pituitary hypoplasia. Laboratory findings confirmed IGHD. GH1 gene could not be amplified in samples from the patient while her parents yielded one fragment of the expected size. SmaI digestion was consistent with the patient being compound heterozygous for 6.7 and 7.6 Kb deletions, while her parents appear to be heterozygous carriers for either the 6.7 or the 7.6 Kb deletions. We have characterized type IA IGHD caused by two different GH1 gene deletions, suggesting that this condition should be considered in severe IGHD, even in non-consanguineous families. |
| المشرفين على المادة: | 12629-01-5 (Human Growth Hormone) |
| SCR Disease Name: | Pituitary dwarfism 1 |
| تواريخ الأحداث: | Date Created: 20130109 Date Completed: 20131209 Latest Revision: 20190918 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1590/s0004-27302012000800016 |
| PMID: | 23295298 |
| قاعدة البيانات: | MEDLINE |
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