Abstract
Objective: Human gene mutations provide an opportunity to study the pathophysiology of the disease process as well as normal physiology. The purpose of the present report was to review known human gene mutations that affect gonadotropin secretion. Design: A retrospective analysis of studies of human gene mutations that affect hypothalamic, pituitary, and gonadal function was conducted. Result(s): Mutations have been identified for at least three genes that cause inherited hypogonadotropic hypogonadism. In addition, gene mutations for the β-subunits of FSH and LH have been characterized. Both activating and inactivating mutations have been identified for the gonadotropin receptor genes. Conclusion(s): The identification of human gene mutations has furthered our understanding of the normal processes of pubertal development and fertility.
Original language | English (US) |
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Pages (from-to) | 201-218 |
Number of pages | 18 |
Journal | Fertility and sterility |
Volume | 71 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1999 |
Externally published | Yes |
Keywords
- Adrenal hypoplasia congenita
- Genetics
- Gonadotropin
- Gonadotropin deficiency
- Gonadotropin receptor
- Idiopathic hypogonadotropic hypogonadism
- Kallmann syndrome
- Precocious puberty
- Premature ovarian failure
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynecology