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Original Article
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Volume 334:507-512 February 22, 1996 Number 8
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Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene
Ana C. Latronico, M.D., James Anasti, M.D., Ivo J.P. Arnhold, M.D., Ph.D., Robert Rapaport, M.D., Berenice B. Mendonca, M.D., Ph.D., Walter Bloise, M.D., Ph.D., Margaret Castro, M.D., Ph.D., Constantine Tsigos, M.D., Ph.D., and George P. Chrousos, M.D.

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In normal males, luteinizing hormone (LH) regulates the function of Leydig cells and, hence, male sexual differentiation, pubertal androgenization, male sexual function, and fertility. Abnormalities in the function of Leydig cells result in primary hypogonadism and varying degrees of male pseudohermaphroditism.1-5 In these patients, Leydig cells are absent, hypoplastic, or unresponsive to stimulation with human chorionic gonadotropin (hCG), and studies of testicular-biopsy samples from some patients have revealed the absence of LH receptors.2,3

In normal women, LH stimulates the theca cells to produce androgen precursors for aromatization to estradiol by granulosa cells during the follicular phase of the menstrual cycle.6 . . . [Full Text of this Article]

Case Reports

Family 1

Family 2

Methods

DNA Sequencing

Transfection and Functional Studies

Ribonuclease Protection Assay and Reverse-Transcriptase PCR

Results

Sequencing of the LH-Receptor Gene

LH Binding and Responsiveness in Cells Transfected with Wild-Type and Mutant LH-Receptor cDNA

Expression of LH-Receptor mRNA in Transfected Cells

Discussion


Source Information

From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Md. (A.C.L., J.A., M.C., C.T., G.P.C.); the Department of Pediatric Endocrinology and Metabolism, Children's Hospital of New Jersey, and New Jersey Medical School, both in Newark (R.R.); and the Division of Endocrinology, Hospital das Clínicas, University of São Paulo, Brazil (I.J.P.A., B.B.M., W.B.).

Address reprint requests to Dr. Chrousos at the National Institutes of Health, Bldg. 10, Rm. 10N262, Bethesda, MD 20892.

References


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