Single-Gene Mutations Resulting in Reproductive Dysfunction in Women

• Published in: The New England journal of medicine Vol. 340; no. 9; pp. 709 - 718
• Main Authors: Adashi, Eli Y, Hennebold, Jon D
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 04.03.1999
• Subjects: Adrenal Hyperplasia, Congenital - genetics; Aromatase - deficiency; Biological and medical sciences; Female; Female genital diseases; Fibrous Dysplasia, Polyostotic - genetics; Galactosemias - genetics; Gonadal Disorders - genetics; Gynecology. Andrology. Obstetrics; Hormones; Humans; Infertility, Female - genetics; Medical sciences; Mutation; Non tumoral diseases; Pituitary gland; Signal transduction; Human; Immunopathology; Etiopathogenesis; Review; Genetic determinism; Female genital diseases; Incidence; Reproduction; Gene; Fertility; Dysfunction; Female genital system; Clinical biology; Female; Mutation
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199903043400907

Fertility in women is regulated by a series of highly coordinated and synchronized interactions in the hypothalamic–pituitary–ovarian axis (Figure 1A). The central regulator of the axis is the group of neurons that secrete gonadotropin-releasing hormone (GnRH). 1 Their cell bodies reside in the arcuate nucleus, and their exons terminate in the median eminence near the hypothalamic–pituitary portal vasculature. These neurons are unique in that they have an intrinsic firing frequency such that GnRH is secreted in pulses at 60-to-90-minute intervals into the portal vasculature to be conveyed to the anterior pituitary gland. There GnRH binds to specific cell-surface receptors on the . . .