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Nessa revisão, descrevemos os genes que codificam uma rede de fatores de transcrição, proteínas, hormônios, enzimas e receptores expressos nos diversos níveis do eixo hipotálamo-hipófise-gonadal (HHG), e relatamos nossa experiência na identificação e caracterização das mutações identificadas em pacientes com alterações do eixo HHG, incluindo o hipogonadismo hipergonadotrófico e o hipogonadismo hipogonadotrófico isolado ou associado a outras deficiências hormonais hipofisárias, e alterações do desenvolvimento puberal e sexual. Até o momento, foram identificados 15 genes que atuam no desenvolvimento e função do eixo HHG: KAL, SF1, DAX1, LEPTINA, PC1, GnRH, GnRHR, HESX1, LHX3, PROP1, FSHR, LHR, FSHb, LHb e FGFR1. A maioria das mutações identificadas em nossa casuística foi descrita pela primeira vez na literatura e freqüentemente esteve associada a novos aspectos clínicos e hormonais das doenças. As conseqüências dessas mutações, caracterizadas por estudos in vitro, contribuíram para um melhor entendimento da estrutura e função das proteínas codificadas por esses genes. A união do diagnóstico clínico, hormonal e molecular dos distúrbios do eixo HHG contribui significantemente para aprimorar o conhecimento e, conseqüentemente, o diagnóstico e a terapêutica destes pacientes. In this review, we described the genes that encode an array of transcription factors, matrix proteins, hormones, enzymes and receptors that are expressed at multiple levels of the hypothalamic-pituitary-gonadal axis (HPG). In addition, we reported our experience in the identification and characterization of naturally occurring mutations in patients affected by HPG disorders, including hypergonadotropic hypogonadism and hypogonadotropic hypogonadism, isolated or associated with others pituitary hormonal deficiencies, and abnormalities of pubertal and sexual development. To date, fifteen distinct genes implicated with HPG axis development and function were identified: KAL, SF1, DAX1, LEPTIN, PC1, GnRH, GnRHR, HESX1, LHX3, PROP1, FSHR, LHR, LHb, FSHb and FGFR1. Most mutations identified in our cohort were described for the first time in literature and they frequently were associated with new clinical and hormonal aspects of the diseases. Characterization of the consequences of these mutations in in vitro studies have provided increased understanding of the structure and function of the proteins encoded by these genes. The combined clinical, hormonal and molecular diagnosis of HPG disorders have helped significantly to improve the knowledge and, consequently, the diagnosis and treatment of these patients

Genética molecular do eixo hipotálamo-hipófise-gonadal