Clinical and molecular analysis of human reproductive disorders in Brazilian patients

3Citations
Citations of this article
10Readers
Mendeley users who have this article in their library.

Abstract

Several genes that influence the development and function of the hypothalamic-pituitary-gonadal-axis (HPG) have been identified. These genes encode an array of transcription factors, matrix proteins, hormones, receptors, and enzymes that are expressed at multiple levels of the HPG. We report the experience of a single Endocrinology Unit in the identification and characterization of naturally occurring mutations in families affected by HPG disorders, including forms of precocious puberty, hypogonadism and abnormal sexual development due to impaired gonadotropin function. Eight distinct genes implicated in HPG function were studied: KAL, SF1, DAX1, GnRH, GnRHR, FSHβ, FSHR, and LHR. Most mutations identified in our cohort are described for the first time in literature. New mutations in SF1, DAX1 and GnRHR genes were identified in three Brazilian patients with hypogonadism. Eight boys with luteinizing hormone- (LH) independent precocious puberty due to testotoxicosis were studied, and all have their LH receptor (LHR) defects elucidated. Among the identified LHR molecular defects, three were new activating mutations. In addition, these mutations were frequently associated with new clinical and hormonal aspects, contributing significantly to the knowledge of the molecular basis of reproductive disorders. In conclusion, the naturally occurring genetic mutations described in the Brazilian families studied provide important insights into the regulation of the HPG.

Cite

CITATION STYLE

APA

Latronico, A. C., Costa, E. M. F., Domenice, S., Correa, R. V., Kohek, M. B. F., Arnhold, I. J. P., & Mendonca, B. B. (2004). Clinical and molecular analysis of human reproductive disorders in Brazilian patients. Brazilian Journal of Medical and Biological Research. Associacao Brasileira de Divulgacao Cientifica. https://doi.org/10.1590/S0100-879X2004000100019

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free