Post-pubertal presentation of 46XY disorders of sex development: A case report

Authors

  • Md. Shafiquzzaman Department of Urology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh https://orcid.org/0009-0005-3278-2259
  • Md. Saiful Islam Department of Urology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Md. Nazrul Islam Department of Urology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bsmmuj.v17i3.73019

Keywords:

46XY DSD, primary amenorrhoea, post-pubertal, disorder of sex development

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References

Jung EJ, Im DH, Park YH, Byun JM, Kim YN, Jeong DH, Sung MS, Kim KT, An HJ, Jung SJ, Lee KB. Female with 46, XY karyotype. Obstet Gynecol Sci. 2017 Jul;60(4):378-382. DOI: https://doi.org/10.5468/ogs.2017.60.4.378.

Putri Susilo AF, Tjandraprawira KD, Bayu P, Bayuaji H. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting. Ann Med Surg (Lond). 2022 Sep 8;82:104577. DOI: https://doi.org/10.1016/j.amsu.2022.104577.

Gangaher A, Chauhan V, Jyotsna VP, Mehta M. Gender identity and gender of rearing in 46 XY disorders of sexual development. Indian J Endocrinol Metab. 2016 Jul-Aug;20(4):536-541. DOI: https://doi.org/10.4103/2230-8210.183471

Reddy DS, Danda VSR, Paidipally SR. Phenotype variation among siblings with 5-alpha reductase deficiency: A case series. Indian J Urol. 2021 Apr-Jun;37(2):183-186. DOI: https://doi.org/10.4103/iju.IJU_340_20.

Nurtjahyo A, Huda AN, Abadi A, Yulisnawati H, Fadil P. Disorder of Sex Development, Mosaic Genetic Disorder 45x, 46xy: A Case Report. Bioscientia Medicina: Journal of Biomedicine and Translational Research. 2022;6(2):1393-1398. DOI: https://doi.org/10.37275/bsm.v6i2.449.

Halani D, Jaiswal A, Dewani D, Patel D. Differences of sex development (DSD) in 46XY, 5-alpha-reductase-2 deficiency patient for vaginoplasty: A case report. DOI: https://doi.org/10.54905/disssi/v26i126/ms346e2380.

Dung PTV, Son TT, Tan PV. One-stage sex reassignment surgery at the delayed presentation in a patient with partial androgen insensitivity syndrome: A case report. Int J Surg Case Rep. 2021 Sep;86:106355. DOI: https://doi.org/10.1016/j.ijscr.2021.106355.

Hummadi AA, Yahya AO, Al-Qahtani AM. Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea. Sultan Qaboos Univ Med J. 2017 May;17(2):e218-e220. DOI: https://doi.org/10.18295/squmj.2016.17.02.014.

Chowdhury MAK, Anwar R, Saha A. Ambiguous genitalia-A social dilemma in Bangladesh: A case report. Int J Surg Case Rep. 2018;42:98-101. DOI: https://doi.org/10.1016/j.ijscr.2017.11.067.

Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010 Jun;94(1):105-113. DOI: https://doi.org/10.1016/j.fertnstert.2009.02.087.

Published

2024-08-28

How to Cite

Md. Shafiquzzaman, Islam, M. S., & Islam, M. N. (2024). Post-pubertal presentation of 46XY disorders of sex development: A case report. Bangabandhu Sheikh Mujib Medical University Journal, 17(3), e73019. https://doi.org/10.3329/bsmmuj.v17i3.73019

Issue

Section

Case Report

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