Validation, normative date and clinical utility of and enzymeimmunoassay for serum...
| Full text | |
| Author(s): |
Lima Amato, Lorena Guimaraes
;
Latronico, Ana Claudia
;
Gontijo Silveira, Leticia Ferreira
Total Authors: 3
|
| Document type: | Journal article |
| Source: | ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA; v. 46, n. 2, p. 283+, JUN 2017. |
| Web of Science Citations: | 4 |
| Abstract | |
Congenital isolated hypogonadotropic hypogonadism (IHH) is a clinically and genetically heterogenous disorder characterized by abnormal synthesis, secretion, or action of gonadotropin-releasing hormone, a key hypothalamic decapeptide that orchestrates the reproductive axis. Several modes of inheritance have been identified. A growing list of causative genes has been implicated in the molecular pathogenesis of syndromic and nonsyndromic IHH, largely contributing for better understanding the complex neuroendocrine control of reproduction. This article summarizes the great advances of molecular genetics of IHH and pointed up the heterogeneity and complexity of the genetic basis of this condition. (AU) | |
| FAPESP's process: | 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders |
| Grantee: | Alexander Augusto de Lima Jorge |
| Support type: | Research Projects - Thematic Grants |