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]