Korean J Lab Med.  2007 Apr;27(2):139-142. 10.3343/kjlm.2007.27.2.139.

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

• Hwang SH
• Lee SM
• Seo EJ
• Choi KU
• Park HJ
• Park NC
• Choi J
• Lee EY

• KMID: 1781474
• DOI: http://doi.org/10.3343/kjlm.2007.27.2.139

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.

Keyword

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

MeSH Terms

Adult
*Chromosomes, Human, Pair 14
*Chromosomes, Human, X
Humans
Infertility, Male/diagnosis/*genetics
Karyotyping
Male
Spermatogenesis
*Translocation, Genetic

Figure

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  Fig. 1. Testicular biopsy showing the arrest of spermatogenesis (H&E stain, ×400).

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  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).

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  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.

Reference

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