Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin

Journal of the Formosan Medical Association

Volumn 112, Issue 2, 2013, Pages 72-78

  Chiang, Han Sun ^a,b,c   Wu, Yi No ^a   Wu, Chien Chih ^c,d   Hwang, Jiann Loung ^d,e  

^a FU JEN CATHOLIC UNIVERSITY   (Taiwan)

^b CARDINAL TIEN HOSPITAL   (Taiwan)

^c TAIPEI MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^e SHIN KONG WU HO SU MEMORIAL HOSPITAL   (Taiwan)

Author keywords

46,XX male syndrome; Testicular azoospermia; Y chromosome

Indexed keywords

FOLLITROPIN; TESTOSTERONE; WT1 PROTEIN;

46,XX MALE SYNDROME; AMBIGUOUS GENITALIA; ARTICLE; AZOOSPERMIA; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRYPTORCHISM; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENE LOCATION; GENETIC ASSOCIATION; HUMAN; HYPOSPADIAS; MAJOR CLINICAL STUDY; MALE; NEWBORN; REAL TIME POLYMERASE CHAIN REACTION; SEX DIFFERENTIATION DISORDER; SRY GENE; TESTIS ATROPHY;

46, XX TESTICULAR DISORDERS OF SEX DEVELOPMENT; AZOOSPERMIA; CHROMOSOMES, HUMAN, Y; CYTOGENETIC ANALYSIS; HUMANS; MALE; POLYMERASE CHAIN REACTION; SEX CHROMOSOME ABERRATIONS; SEX-DETERMINING REGION Y PROTEIN;

EID: 84873276378     PISSN: None     EISSN: 09296646     Source Type: Journal    
DOI: 10.1016/j.jfma.2012.02.009     Document Type: Article

References (29)

1. Valetto A., Bertini V., Rapalini E., Baldinotti F., Di Martino D., Simi P. Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man. Fertil Steril 2004, 81:1388-1390.
2. Johnson M.D. Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil Steril 1998, 70:397-411.
3. Simoni M., Kamischke A., Nieschlag E. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum Reprod 1998, 13:1764-1768.
4. Chiang H.S., Wei H.J., Chen Y.T. Genetic screening for patients with azoospermia and severe oligo-asthenospermia. Int J Androl 2000, 23:20-25.
5. Chiang H.S., Yeh S.D., Wu C.C., Huang B.C., Tsai H.J., Fang C.L. Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia. Asian J Androl 2004, 6:369-375.
6. Quilter C.R., Svennevik E.C., Serhal P., Ralph D., Bahadur G., Stanhope R., et al. Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males. Fertil Steril 2003, 79:301-307.
7. Xia X.Y., Cui Y.X., Lu H.Y., Yang B., Wang G.H., Pan L.J., et al. Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome. Zhonghua Nan Ke Xue 2007, 13:1094-1097.
8. Dauwerse J.G., Hansson K.B., Brouwers A.A., Peters D.J., Breuning M.H. An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006, 86. 463.e1-5.
9. 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, 83:216-219.
10. Aknin-Seifer I.E., Touraine R.L., Lejeune H., Laurent J.L., Lauras B., Levy R. A simple, low-cost and non-invasive method for screening Y-chromosome microdeletions in infertile men. Hum Reprod 2003, 18:257-261.
11. Hook E.B. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1997, 29:94-97.
12. Weise A., Leihr T. Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH). Methods Mol Biol 2008, 444:39-47.
13. Rego A., Margarit E., Estivill X., Regal M., García-Mayor R.V. Development in a 46 XX boy with positive SRY gene. J Pediatr Endocrinol Metab 1996, 9:623-626.
14. Ergun-Longmire B., Vinci G., Alonso L., Matthew S., Tansil S., Lin-Su K., et al. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. J Pediatr Endocrinol Metab 2005, 18:739-748.
15. Grigorescu-Sido A., Heinrich U., Grigorescu-Sido P., Jauch A., Hager H.D., Vogt P.H., et al. Three new 46, XX male patients: a clinical, cytogenetic and molecular analysis. J Pediatr Endocrinol Metab 2005, 18:197-203.
16. Queralt R., Madrigal I., Vallecillos M.A., Morales C., Ballescá J.L., Oliva R., et al. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med Genet A 2008, 146A:1335-1340.
17. Hughes I.A., Houk C., Ahmed S.F., Lee P.A., LWPES Consensus Group; ESPE Consensus Group Consensus statement on management of intersex disorders. Arch Dis Child 2006, 91:554-563.
18. Amos-Landgraf J.M., Cottle A., Plenge R.M., Friez M., Schwartz C.E., Longshore J., et al. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 2006, 79:493-499.
19. Ishii M., Tachiwana T., Hoshino A., Tsunekawa N., Hiramatsu R., Matoba S., et al. Potency of testicular somatic environment to support spermatogenesis in XX/Sry transgenic male mice. Development 2007, 134:449-454.
20. Boucekkine C., Toublanc J.E., Abbas N., Chaabouni S., Ouahid S., Semrouni M., et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxf) 1994, 40:733-742.
21. de la Chapelle A. The etiology of maleness in XX men. Hum Genet 1981, 58:105-116.
22. Kirsch S., Weiss B., Zumbach K., Rappoid G. Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome. Hum Genet 2004, 114:173-181.
23. Bouayed Abdelmoula N., Portnoi M.F., Keskes L., Recan D., Bahloul A., Boudawara T., et al. Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet 2003, 46:11-18.
24. Moreno-Garcia M., Sanchez Del Pozo J., Gutierrez-Diez P., Gil-Fournier B., Barreiro Miranda E. SRY-positive 46, XX male with cryptorchidism as the only presenting clinical feature. Urol Int 2003, 71:219-221.
25. Rajender S., Rajani V., Gupta N.J., Chakravarty B., Singh L., Thangaraj K. SRY-negative 46, XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod 2006, 12:341-346.
26. Temel S.G., Gulten T., Yakut T., Saglam H., Kilic N., Bausch E., et al. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Sex Develop 2007, 1:24-34.
27. Rigola M.A., Carrera M., Ribas I., Egozcue J., Miró R., Fuster C. A comparative genomic hybridization study in a 46, XX male. Fertil Steril 2002, 78:186-188.
28. Chi L., Itäranta P., Zhang S., Vainio S. Sprouty2 is involved in male sex organogenesis by controlling fibroblast growth factor 9-induced mesonephric cell migration to the developing testis. Endocrinology 2006, 147:3777-3788.
29. Colvin J.S., Green R.P., Schmahl J., Capel B., Ornitz D.M. Male-to-female sex reversal in mice lacking fibroblast growth factor 9. Cell 2001, 104:875-889.