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CASE REPORT

Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency

ORCID Icon, , &
Pages 794-799 | Received 06 Apr 2021, Accepted 14 May 2021, Published online: 12 Jul 2021

References

  • Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, Chandrasekharan S. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health. 2015;7:113–26. doi:10.2147/IJWH.S67124.
  • Dhamankar R, DiNonno W, Martin KA, Demko ZP, Gomez-Lobo V. Fetal sex results of noninvasive prenatal testing and differences with ultrasonography. Obstet Gynecol. 2020;135(5):1198–206. doi:10.1097/AOG.0000000000003791.
  • Ayala NK, Kole MB, Forcier M, Halliday J, Russo ML. Sex discordance between cell-free fetal DNA and mid-trimester ultrasound: a modern conundrum. Prenat Diagn. 2020;40(4):514–6. doi:10.1002/pd.5576.
  • Lopez-Soto A, Bueno-Gonzalez M, Urbano-Reyes I, Meseguer-Gonzalez JL, Jodar-Perez MA, Garcia-Izquierdo O. Fetal sex discordance. Taiwan J Obstet Gynecol. 2020;59(5):652–5. doi:10.1016/j.tjog.2020.07.004.
  • Smet ME, Scott FP, McLennan AC. Discordant fetal sex on NIPT and ultrasound. Prenat Diagn. 2020;40(11):1353–65. doi:10.1002/pd.5676.
  • Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD. Steroid 5α-reductase 2 deficiency. J Steroid Biochem Mol Biol. 2016;163:206–11. doi:10.1016/j.jsbmb.2016.05.020.
  • Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, Hall MP, Dodd M, Lacroute P, Stosic M, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014;124(2):210–8. doi:10.1097/AOG.0000000000000363.
  • Curnow KJ, Wilkins-Haug L, Ryan A, Kırkızlar E, Stosic M, Hall MP, Sigurjonsson S, Demko Z, Rabinowitz M, Gross SJ. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol. 2015;212(1):79.e1–79.e9. doi:10.1016/j.ajog.2014.10.012.
  • Ahmed SF, Khwaja O, Hughes IA. Clinical features and gender assignment in cases of male undermasculinisation: the role for a masculinisation score. BJU Int. 2000;85(1):120–4. doi:10.1046/j.1464-410x.2000.00354.x.
  • Becker M, Hesse V. Minipuberty: why does it happen? Horm Res Paediatr. 2020;93(2):76–84. doi:10.1159/000508329.
  • Chitty LS, Chatelain P, Wolffenbuttel KP, Aigrain Y. Prenatal management of disorders of sex development. J Pediatr Urol. 2012;8(6):576–84. doi:10.1016/j.jpurol.2012.10.012.
  • Colmant C, Morin-Surroca M, Fuchs F, Fernandez H, Senat MV. Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant? Eur J Obstet Gynecol Reprod Biol. 2013;171(2):197–204. doi:10.1016/j.ejogrb.2013.09.005.
  • Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA. 2011;306(6):627–36. doi:10.1001/jama.2011.1114.
  • Wright CF, Wei Y, Higgins JPT, Sagoo GS. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes. 2012;5:476–86. doi:10.1186/1756-0500-5-476.
  • Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus consensus statement on management of intersex disorders. Pediatrics. 2006;118(2):e488–e500. doi:10.1542/peds.2006-0738.
  • Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, et al. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab. 2011;96(2):296–307. doi:10.1210/jc.2010-1024.
  • Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, Elford S, Hughes IA, Izatt L, Krone N, et al. Society for endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (revised 2015). Clin Endocrinol (Oxf). 2016;84(5):771–88. doi:10.1111/cen.12857.

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