Compound genetic abnormalities in patients with cystic fibrosis transmembrane regulator gene mutation

Fertility and Sterility

Volumn 87, Issue 6, 2007, Pages 1468.e5-1468.e8

  Karpman, Edward ^a   Williams IV, Daniel H ^a   Wilberforce, Sidney ^a   Lipshultz, Larry I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

cystic fibrosis; epididymis abnormalities; karyotype; Vas deferens abnormalities; Y chromosome

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CHROMOSOME DELETION Y; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA POLYMORPHISM; GENE MUTATION; GENETIC DISORDER; HETEROZYGOTE DETECTION; HUMAN; INTRON; KARYOTYPING; MAJOR CLINICAL STUDY; MALE INFERTILITY; PREVALENCE; PRIORITY JOURNAL; SEMEN ANALYSIS; SPERMATOGENESIS; Y CHROMOSOME;

EID: 34249725161     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2006.07.1537     Document Type: Article

References (16)

1. Stanwell-Smith R.E., and Hendry W.F. The prognosis of male subfertility: a survey of 1025 men referred to a fertility clinic. Br J Urol 56 (1984) 422-428
2. Willott G.M. Frequency of azoospermia. Forensic Sci Int 20 (1982) 9-10
3. Hopps C.V., Mielnik A., Goldstein M., Palermo G.D., Rosenwaks Z., and Schlegel P.N. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 18 (2003) 1660-1665
4. Anguiano A., Oates R.D., Amos J.A., Dean M., Gerrard B., Stewart C., et al. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 267 (1992) 1794-1797
5. Kaplan E., Shwachman H., Perlmutter A.D., Rule A., Khaw K.T., and Holsclaw D.S. Reproductive failure in males with cystic fibrosis. N Engl J Med 279 (1968) 65-69
6. Mak V., Zielenski J., Tsui L.C., Durie P., Zini A., Martin S., et al. Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. JAMA 281 (1999) 2217-2224
7. Driscoll D.A., Wenstrom K.D., and Williams III J. ACOG technology assessment in obstetrics and gynecology. Genetics and molecular diagnostic testing. Number 1, July 2002. Obstet Gynecol 100 (2002) 193-211
8. Black L.D., Nudell D.M., Cha I., Cherry A.M., and Turek P.J. Compound genetic factors as a cause of male infertility: case report. Hum Reprod 15 (2000) 449-451
9. Dohle G.R., Halley D.J., Van Hemel J.O., van den Ouwel A.M., Pieters M.H., Weber R.F., et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 17 (2002) 13-16
10. Meng M.V., Black L.D., Cha I., Ljung B.M., Pera R.A., and Turek P.J. Impaired spermatogenesis in men with congenital absence of the vas deferens. Hum Reprod 16 (2001) 529-533
11. Schulz S., Jakubiczka S., Kropf S., Nickel I., Muschke P., and Kleinstein J. Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril 85 (2006) 135-138
12. Chillon M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332 (1995) 1475-1480
13. Watson M.S., Cutting G.R., Desnick R.J., Driscoll D.A., Klinger K., Mennuti M., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6 (2004) 387-391
14. Cruger D.G., Agerholm I., Byriel L., Fedder J., and Bruun-Petersen G. Genetic analysis of males from intracytoplasmic sperm injection couples. Clin Genet 64 (2003) 198-203
15. Silber S.J., Patrizio P., and Asch R.H. Quantitative evaluation of spermatogenesis by testicular histology in men with congenital absence of the vas deferens undergoing epididymal sperm aspiration. Hum Reprod 5 (1990) 89-93
16. Mak V., Zielenski J., Tsui L.C., Durie P., Zini A., Martin S., et al. Cystic fibrosis gene mutations and infertile men with primary testicular failure. Hum Reprod 15 (2000) 436-439