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Previous Volume 337:607-611 August 28, 1997 Number 9 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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The pituitary gonadotropins luteinizing hormone and follicle-stimulating hormone (FSH) regulate the production of sex steroids necessary for pubertal development and fertility. Inherited genetic defects that cause hypogonadism have been identified at multiple levels of the hypothalamic–pituitary–gonadal axis.¹ They include Kallmann's syndrome, which is caused by mutations in the KAL gene,² and X-linked adrenal hypoplasia, which is caused by mutations in the DAX-1 gene.³ Both cause deficiency of hypothalamic gonadotropin-releasing hormone, and DAX-1 mutations also cause a defect in the production of gonadotropins by the pituitary.⁴ A homozygous mutation in the gene for the -subunit of luteinizing hormone has been reported . . . [Full Text of this Article]

Methods

Subjects

DNA Sequencing and Expression of Mutant Recombinant Fsh

Results

Mutations in the FSH -Subunit Gene

Expression of the Mutant Fsh -Subunit Genes in Vitro

Discussion

Source Information

From the Section of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Chicago, Chicago (L.C.L.); the Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Chicago (E.-J.L., J.L.J.); the Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston (D.B.P.); the Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Johns Hopkins University, Baltimore (A.B.N., K.V.V.); the Section of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Beth Israel Deaconess Medical Center, Boston (B.L.L., M.R.G., R.H.R.); and the Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta (P.G.M.). Presented at the annual meeting of the Society for Gynecologic Investigation, Chicago, March 15–18, 1995.

Address reprint requests to Dr. Layman at the Section of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Chicago, 5841 S. Maryland Ave., MC 2050, Chicago, IL 60637.

References

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