An SRY-positive 46,XX male

Balkan Journal of Medical Genetics

Volumn 10, Issue 1, 2007, Pages 51-52

  Kaur, Anupam ^a   Sachdeva, K ^a   Mahajan, S ^a   Virk, S P S ^b   Singh, J R ^a  

^a GURU NANAK DEV UNIVERSITY   (India)

^b Centre for Human Reproduction   (India)

Author keywords

Azoospermia; Infertile; XX male

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME ANALYSIS; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; HUMAN; INTERPHASE; KARYOTYPE 46,XX; LUTEINIZING HORMONE BLOOD LEVEL; MALE; METAPHASE; SEMEN ANALYSIS; SRY GENE; TESTOSTERONE BLOOD LEVEL; XX MALE;

EID: 34547406888     PISSN: 13110160     EISSN: None     Source Type: Journal    
DOI: 10.2478/v10034-007-0010-9     Document Type: Article

References (10)

1. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA binding motif. Nature 1990; 346(6281): 216-217.
2. McElreavey K, Cortes L. X-Y Translocation and sex differentiation. Reprod Med 2001; 19(2): 133-139.
3. Ferguson-Smith MA. X-Y Chromosomal interchange in the aetiology of the true hermaphoditism and of XX male. Lancet 1966; 2(7461): 475-476.
4. McElreavey K, Rappaport R, Vilian E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Leconiat M, Boucekkine C, Kucheria K, Temtamy S, Nuhoul-Fekete C, Brauner R, Marc Fellous. A minority of 46, XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 1992; 90(1-2): 121-125.
5. Kaur A, Mahajan S, Singh JR. Cytogenetic investigation in mentally retarded individuals. Int J Hum Genet 2003; 3(1):13-16.
6. De La Chapelle A, Tippett PA, Wettestrand G, Page D. Genetic evidence of X-Y interchange in human XX male. Nature 1984; 307(5497): 170-171.
7. Rego A, Margarit E, Estivill X, Regal M, Garcia-Mayor RV. Development in a 46,XX boy with positive SRY gene. J Pediatr Endocrinol Metab 1996; 9(6): 623-629.
8. Castineyra G, Copelli S, Levalle 0.46,XX Male: clinical, hormonal/ genetic findings. Arch Androl 2002; 48(4): 251-257.
9. Li JH, Huang TH, Jiang XW, Xie QD. 46, XX Male sex reversal syndrome. Asian J Androl 2004; 6(2): 165-167.
10. Vernole P, Terrinoni A, Didona B, Laurenzi V, Rossi P, Melino G, Grimaldi P. An SRY-negative XX male with Huriez syndrome. Clin Genet 2000; 57(1): 61-66.