A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)

Sang-Hyun Hwang; Sun-Min Lee; Eul Ju Seo; Kyung Un Choi; Hyun Jun Park; Nam Cheol Park; Jin Choi; Eun-Yup Lee

doi:10.3343/kjlm.2007.27.2.139

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Hwang, Lee, Seo, Choi, Park, Park, Choi, and Lee: A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)

Original Article

Korean J Leg Med 2007;27(2):139-142.

Published online: 10 February 2007

DOI: https://doi.org/10.3343/kjlm.2007.27.2.139

A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)

Sang-Hyun Hwang, M.D.¹, Sun-Min Lee, M.D.¹, Eul Ju Seo, M.D.², Kyung Un Choi, M.D.³, Hyun Jun Park, M.D.⁴, Nam Cheol Park, M.D.⁴, Jin Choi, Ph.D.⁵, Eun-Yup Lee, M.D.¹

¹Department of Laboratory Medicine, School of Medicine Pusan National University, Busan, Korea

²Department of Laboratory Medicine, Asan Medical Center and University of Ulsan College of Medicine, Seoul, Korea

³Department of Pathology, School of Medicine Pusan National University, Busan, Korea

⁴Department of Urology, School of Medicine Pusan National University, Busan, Korea

⁵Department of Urology, School of Medicine, Kanazawa University, Ishikawa, Japan

Received 31 October 2006 Revised 19 December 2006 Accepted 20 December 2006

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A chromosomal abnormality was found in about 3.6–7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility. We described here a 26-year-old infertile male with t(X;14)(p11.4;p12). He showed a normal phenotype without any familial history of congenital abnormalities. The cytogenetic analysis of the proband revealed an X-autosomal translocation, 46,Y,t(X;14)(p11.4;p12), which was inherited from his mother. The testis biopsies indicated the arrest of spermatogenesis. There were no microdeletions of the azoospermia factor a (AZFa), AZFb and AZFc regions in the Y chromosome shown by PCR with 11 sequence-tagged site (STS) markers. According to the literature, male carriers of an X-autosome translocation are invariably sterile, regardless of the position of the break-point in the X chromosome. To our knowledge, this is the first case report of azoospermia with t(X;14)(p11.4;p12) in Korea.

Keywords: Male infertility, Azoospermia, X-Autosome translocation, t(X;14)

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Fig. 1.

Testicular biopsy showing the arrest of spermatogenesis (H&E stain, ×400).

Fig. 2.

(A) Partial karyotype of the patient showing t(X;14)(p11.4;p12), (B) Karyotype of the patient's mother showing t(X;14)(p11.4;p12).

Fig. 3.

PCR amplification of the AZFregions of the patient (S) and his father (F). There were no microdeletions in AZFa (A), AZFb (A), and AZFc (B) regions using 11 STS markers. Normal male control (♂) and female control (♀) were used as positive and negative controls, respectively.

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