Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: A case report

Clinical and Experimental Obstetrics and Gynecology

Volumn 35, Issue 4, 2008, Pages 299-300

  Pepene, C E ^a,b   Coman, I ^a   Mihu, D ^a   Militaru, M ^a   Duncea, I ^a  

^a IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b Endocrinology Clinic   (Romania)

Author keywords

46, XX male; Fluorescence in situ hybridization; Hypogonadism; Infertility; Karyotype

Indexed keywords

CHORIONIC GONADOTROPIN; NANDROLONE UNDECANOATE; TESTIS DETERMINING FACTOR;

ADULT; ARTICLE; AZOOSPERMIA; BODY FAT DISTRIBUTION; BODY HEIGHT; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GYNECOMASTIA; HORMONE SUBSTITUTION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XX; MALE; MALE INFERTILITY; OSTEOPENIA; SEXUAL BEHAVIOR; TESTIS SIZE; TESTOSTERONE BLOOD LEVEL;

ADULT; CHROMOSOMES, HUMAN, Y; GONADAL DYSGENESIS, MIXED; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY, MALE; KARYOTYPING; MALE; SEX-DETERMINING REGION Y PROTEIN; TRANSLOCATION, GENETIC;

EID: 57849085758     PISSN: 03906663     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Dauwerse J.G., Hansson K.B., Brouwers A.A., Peters D.J., Breuning M.H.: "An XX male with sex-determining region Y gene inserted in the long arm of chromosome 16". Fertil Steril, 2006, 86, 631.
2. Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffith B.L., Smith M.J. et al.: "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif". Nature, 1990, 346, 240.
3. Koopman P., Gubbay Y., Vivian N., Goofellow P., Lovell-Badge R.: "Male development of chromosomally female mice transgenic for SRY". Nature, 1991, 351, 117.
4. Ferguson-Smith M.A., Cooke A., Affara N.A., Boyd E., Tolmie J.L.: "Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination". Hum. Genet, 1990, 84, 198.
5. Boucekkine C., Toublane J.E., Abas N., Chaabouni S., Ouahid S., Semrouni M. et al.: "Clinical and anatomical spectrum in XX sex revearsed patients: relationship to the presence of Y specific DNA sequences". Clin. Endocrinol., 1994, 40, 733.
6. Abusheikha N., Lass A., Brinsden P.: "XX males without SRY gene and with infertility". Human Reprod, 2001, 16, 717.
7. Valetto A., Bertini V, Rapalini E., Simi P.: "A 46, XX SRY-negative man with complete virilization and infertility as the main anomaly". Fertil Steril, 2005, 83, 216.
8. Yencilek F., Baykal C.: "46 XX male syndrome: case report". Clin. Exp. Obstet. Gynecol., 2005, 32, 263.
9. Sharp A., Kusz K., Jaruzelska J., Tapper W., Szarras-Czapnik M., Wolski J., Jacobs P.: "Variability of sexual phenotype in 46, XX(SRY+) patients: the influence of spreading X inactivation versus position effects". J. Med. Gen., 2005, 42, 420.
10. Bouayed Abdelmoula N., Portnoi M.F., Keskes L., Recan D., Bahloul A., Boudawara T. et al.: "Skewes X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature". Ann. Genet, 2003, 46, 11.