FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 337:642 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.

	Full Text Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

To the Editor: In 1972, Rabin et al. described the case of an Israeli woman with primary amenorrhea due to an isolated deficiency of follicle-stimulating hormone.¹ They "revisited" the case in 1979 and reported that treatment with gonadotropin had induced ovulation and resulted in pregnancy.²

In 1993, we elucidated the genetic basis of an isolated follicle-stimulating hormone deficiency in an unrelated Italian woman. She was homozygous for a two-nucleotide deletion in the coding region of the gene for the subunit of follicle-stimulating hormone, which caused a shift in the reading frame and a premature termination codon, resulting in a 25-amino-acid . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Rubio-Gozalbo, M.E., Gubbels, C.S., Bakker, J.A., Menheere, P.P.C.A., Wodzig, W.K.W.H., Land, J.A. (2009). Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update 0: dmp038v1-dmp038 [Abstract] [Full Text]  
• Layman, L. C., Porto, A. L. A., Xie, J., da Motta, L. A. C. R., da Motta, L. D. C., Weiser, W., Sluss, P. M. (2002). FSH{beta} Gene Mutations in a Female with Partial Breast Development and a Male Sibling with Normal Puberty and Azoospermia. J. Clin. Endocrinol. Metab. 87: 3702-3707 [Abstract] [Full Text]  
• Kalantaridou, S. N., Chrousos, G. P. (2002). Monogenic Disorders of Puberty. J. Clin. Endocrinol. Metab. 87: 2481-2494 [Full Text]  
• Rannikko, A., Pakarinen, P., Manna, P. R., Beau, I., Misrahi, M., Aittomaki, K., Huhtaniemi, I. (2002). Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation. Mol Hum Reprod 8: 311-317 [Abstract] [Full Text]  
• Layman, L C (2002). Human gene mutations causing infertility. J. Med. Genet. 39: 153-161 [Abstract] [Full Text]  
• Themmen, A. P. N., Huhtaniemi, I. T. (2000). Mutations of Gonadotropins and Gonadotropin Receptors: Elucidating the Physiology and Pathophysiology of Pituitary-Gonadal Function. Endocr. Rev. 21: 551-583 [Abstract] [Full Text]