INTRODUCTION: In Itabianinha, Sergipe, it was found the largest known population group with an IDGH associated phenotype, related to IVS1+1 mutation, G->A in the gene of GHRH receptor. The aim of the present work is to describe the clinical and laboratorial phenotype of these patients. MATERIAL AND METHODS: Twelve young patients, under 20 years old, and 10 volunteer controls without the GH deficiency were selected for a transversal study. RESULTS AND DISCUSSION: IDGH individuals presented hyporesponsivity to the clonidine test and to the hypoglycemic insulinic test. Furthermore, they presented low levels of IGF-I and IGFBP-3 as compared with reference values (6 ± 4ng/ml and 510 ± 151ng/ml, respectively p < 0.01). There were no alterations in the thyroid, adrenal and gonad functions. The sella turcica study was also normal. The patients from Itabaianinha, when compared with other data of patients with GHRH-R mutations, were shorter, and presented characteristic typical facies and central adiposity. CONCLUSION: The results showed that the IDGH patients from Itabaininha presented a growth hormone isolated Type IB deficiency. In addition, the lower height was not associated with pituitary alterations or other non-hormone pathologies.
Isolated deficiency of growth hormone; Growth hormone; Clonidine test; Insulinic hypoglycemy; Itabaianinha; Low height
