Volume 4, Issue 2 (Fall & Winter 2020)                   J Res Urol 2020, 4(2): 101-107 | Back to browse issues page


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Mohseni Rad H, Hosseiniasl S. A xx Male (SRY+) Disorder of Sexual Development; A Case Report and Review of Articles. J Res Urol 2020; 4 (2) :101-107
URL: http://urology.umsha.ac.ir/article-1-83-en.html
1- Assistant Professor, Department of Surgery, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran , sirhamed@hotmail.com
2- Associated Professor, Department of Anatomical Sciences and Pathology, School of Medicine, Ardabil University of Medical science, Ardabil, Iran
Abstract:   (3062 Views)
46 XX male DSD which was previously named “de la Chapelle” syndrome is a rare disorder found in every 20000 infant males. Sixty to ninety percent of 46-XX males are fully virilized and have normal genitalia except small testicles. This report explains a 40 year-old infertile man presented with small testes and azoospermia but no signs of undervirilization. His had hypergonadotropic hypogonadism. Lymphocytes were cultured in GibcoTM RPMI Medium 1640 for 7 days for karyotyping which revealed 46XX. In conclusion, not to miss genetic defects like 46, XX male DSD, karyotype test should be considered in cases with atrophic testicles plus azoospermia even in adult men.
Full-Text [PDF 1065 kb]   (1457 Downloads)    
Type of Study: case report | Subject: Andrology
Received: 2021/07/28 | Accepted: 2021/08/1 | Published: 2021/09/4

References
1. Visser MM, Lutgers HL, van Ravenswaaij CMA. [The 46,XX male; a chromosomal form of a disorder of sex development]. Ned Tijdschr Geneeskd. 2018;162.
2. Hsu Lilian Y. Prenatal Diagnosis of chromosomal abnormalities through amniocentesis. Genetic Disorders and the Fetus. 1998;4.
3. Shi Q, Martin RH. Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet. 2000;90(3-4):219-26.
4. Wang T, Liu JH, Yang J, Chen J, Ye ZQ. 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia. 2009;41(1):59-62. [DOI:10.1111/j.1439-0272.2008.00889.x]
5. Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. 46,XX sex reversal. Arch Med Res. 2001;32(6):559-66. [DOI:10.1016/S0188-4409(01)00322-8]
6. 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(8):739-48. [DOI:10.1515/JPEM.2005.18.8.739]
7. Majzoub A, Arafa M, Starks C, Elbardisi H, Al Said S, Sabanegh E. 46 XX karyotype during male fertility evaluation; case series and literature review. Asian J Androl. 2017;19(2):168-72. [DOI:10.4103/1008-682X.181224]
8. Delachapelle A, Hortling H, Niemi M, Wennstroem J. xx sex chromosomes in a human male. first case. Acta Med Scand. 1964;175:Suppl 412:25-8.
9. Bessiène L, Lombès M, Bouvattier C. [Differences of Sex Development (DSD): Controversies and Challenges]. Ann Endocrinol (Paris). 2018;79 Suppl 1:S22-s30.
10. Wang R. [Genetic analysis of a case of 46, XX, SRY- male syndrome]. Zhonghua Nan Ke Xue. 2018;24(5):431-5.
11. Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, et al. The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metab. 1993;76(3):690-5.
12. Zenteno JC, López M, Vera C, Méndez JP, Kofman-Alfaro S. Two SRY-negative XX male brothers without genital ambiguity. Hum Genet. 1997;100(5-6):606-10.
13. Radmayr C. Bogaert G, Dogan HS, Nijman JM (Vice-chair), Rawashdeh YFH, Silay MS, Stein R, Tekgul S. Guidelines Associates:'t Hoen LA, Quaedackers J, Bhatt N. EAU Guidelines on Paediatric urology.
14. Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet. 1990;84(2):198-202. [DOI:10.1007/BF00208942]
15. Boucekkine C, Toublanc JE, 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(6):733-42. [DOI:10.1111/j.1365-2265.1994.tb02506.x]
16. López M, Torres L, Méndez JP, Cervantes A, Alfaro G, Pérez-Palacios G, et al. SRY alone can induce normal male sexual differentiation. Am J Med Genet. 1995;55(3):356-8. [DOI:10.1002/ajmg.1320550321]
17. McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci U S A. 1993;90(8):3368-72. [DOI:10.1073/pnas.90.8.3368]
18. Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, et al. 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. Medicina (Kaunas). 2019;55(7).
19. Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet. 2006;38(11):1304-9. [DOI:10.1038/ng1907]
20. Miró R, Caballín MR, Marina S, Egozcue J. Mosaicism in XX males. Hum Genet. 1978;45(1):103-6. [DOI:10.1007/BF00277581]
21. Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job JC, et al. A possible common origin of "Y-negative" human XX males and XX true hermaphrodites. Hum Genet. 1990;84(4):356-60. [DOI:10.1007/BF00196234]

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