Familial growth hormone deficiency with mutated GHRH receptor gene: Clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha
| Autor: | Sergio P. A. Toledo, Roberto Salvatori, Rogério G. Gondo, N M A Abelin, Bernardo Leo Wajchenberg, Daniel Gianella-Neto, C Y Hayashida, Carmela Ferrari, M C L Ezabella, Michael A. Levine |
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| Předmět: |
Adult
Male Receptors Neuropeptide Heterozygote medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism Dwarfism Genes Recessive Gene mutation Biology Growth hormone deficiency Endocrinology Receptors Pituitary Hormone-Regulating Hormone Internal medicine medicine Humans Child Receptor Aged Aged 80 and over Homozygote Wild type General Medicine Middle Aged medicine.disease Hormones Prolactin Pedigree Hormone receptor Growth Hormone Mutation Female Brazil Hormone |
| Zdroj: | Scopus-Elsevier |
| Popis: | OBJECTIVE: To characterize clinically and hormonally the syndrome of autosomal recessive familial growth hormone deficiency (FGHD) recently identified in Itabaianinha, Sergipe, Brazil, caused by a novel mutation (mt) that inactivates the growth hormone-releasing hormone receptor (GHRH-R) gene. DESIGN: Clinical and hormonal evaluations were performed in 21 FGHD individuals (mt/mt group) aged 8 to 63 years, 13 heterozygotes for the GHRH-R mutation (wt/mt group) and 5 homozygotes for the wild type (wt) allele (wt/wt group), identified by genotyping of peripheral blood leukocyte DNA. METHODS: Clinical and hormonal characterization included physical examination and measurement of GH, IGF-I, IGF binding protein-3 (IGFBP-3), cortisol, prolactin, LH, FSH, and free thyroxine (FT4). RESULTS: Clinical features were consistent with isolated growth hormone deficiency. Height was significantly reduced in the mt/mt group compared with the wt/mt group (mean height standard deviation score (SDS) +/- s.d.: -7.35+/-1.37 vs -1.84+/-1.44 respectively, P |
| Databáze: | OpenAIRE |
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