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We report a case of Robertsonian translocation associated with azoospermia. The literature is reviewed, and testicular histology and hormone condition are discussed. Isoji Sasagawa, MD, Department of Urology, Saiseikai, Fukushima General Hospital, 4-15 Sakuragi-cho, Fukushima-shi, Fukushima 960 (Japan) Introduction It is well-known that sex chromosome abnormalities are related to male infertility [1]. Recently, a possible relationship between autosomal translocation and male infertility is emphasized [2, 3]. However, literature dealing with coincidence of azoospermia with Robertsonian (central fusion) translocation is scanty [4]. Herein we report a case of Robertsonian translocation associated with azoospermia. (13ql4q) (fig. 1). Bilateral testicular biopsy was performed for the evaluation of spermatogenesis. Tubular walls were slightly thickened. Spermatogenesis was generally arrested at the stage of primary spermatocyte (fig. 2). In some seminiferous tubules, germ cells were disorganized and were detached from the epithelium (fig. 3). Neither spermatids nor spermatozoa were observed. However, Leydig and Sertoli cells appeared normal. v. M îl Case Report A 30-year-old Japanese man was referred to our hospital because of his infertility. He was a well-developed male weighing 63 kg with a height of 165 cm. Physical examination revealed male habitus with normal adult pubic and axillary hair. Neither malformations nor gynecomastia were seen. The penis, epididymides, spermatic cords and prostate were normal. Both testes were of normal size and consistency. The right testis was about 22 ml in volume and left one was approximately 19 ml with respective orchidometer measurements. Repeated spermatograms revealed the absence of spermatozoa. Laboratory investigations including blood analysis, D ow nl oa de d by : 54 .7 0. 40 .1 1 10 /6 /2 01 7 1: 49 :5 5 A M urinalysis and blood chemistry were within normal ranges. Plasma luteinizing hormone was 20 mlU/ml (normal range, 5–30 mlU/ml), follicle-stimulating hormone 8 mlU/ml (normal range, 5– 22 mlU/ml), testosterone 4.8 ng/ml (normal range, 3.0–8.5 ng/ml) and prolactin 11 ng/ml (normal range, 2–20 ng/ml). Chromosome analysis of peripheral lymphocytes revealed a karyotype of 45, XY, -13, -14, +t Fig. 1. Chromosome analysis reveals a karyotype of 45, XY, -13, -14,+t(13ql4q). 380 Sasagawa/Nakada/Terada/Katayama Fig. 2. Seminiferous epithelium shows maturation arrest in sper-matogenesis. HE. × 150. Fig. 3. Germ cells are disorganized and are detached from seminiferous epithelium. HE. × 150. Discussion Robertsonian translocation associated with azoosper-mia is a rare condition. Buurrouillou et al. [5] reported 1 case of Robertsonian translocation among the 383 azoo-spermic men. In our department only 1 case has been observed among the 119 patients with azoospermia. Several theories concerning the mechanism ofautoso-mal translocation on spermatogenic failure have been proposed; position effect [6], low chiasma count [7], impaired synapsis [8] and perturbed inactivation of the YX bivalent [9]. However, formal evidence for these theories is still lacking. Histological studies on testicular biopsies from patients with Robertsonian translocation show partial or complete arrest of spermatogenesis and slight hyperpla-sia of Leydig cells [4, 10]. In our case, spermatogenesis D ow nl oa de d by : 54.70.40.11-10/6/20171:49:55AM was arrested at the stage of primary spermatocyte, while Leydig and Sertoli cells appearednormal. Plasma hormone levels were within normal ranges in our case. In patients with sexchromosome abnormality, severe hyal-inization of seminiferous tubules and hyperplasia of Ley-dig cells are usually observed [11]. Furthermore, hyper-gonadotropic hypogonadism is commonin sex chromosome abnormality [12]. These facts suggest that histological changes of the testisand hormonal abnormalities are milder in Robertsonian translocation than in sex chromosomeabnormality.ReferencesChandley AC: The chromosomal basis of human infertility. Br MedBull 1979;35:181–186.Plymate SR, Bremner WJ, Paulsen CA: The association of D-group chromosomal translocationsand defective spermatogenesis. Fertil Steril 1976;27:139–144.Marmor D, Taillemite JL, Akker JVD, et al: Semen analysis in subfertile balanced-translocationcarriers. Fertil Steril 1980;34: 496–502.Chandley AC, Christie S, Fletcher J, et al: Translocation hetero-zygosity and associatedsubfertility in man. Cytogenetics 1972; 11:516–533.Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with asperm count below 10 million/ ml. Hum Genet 1985;71:366–367.Ford CE: Genetic activity of sex chromosomes in germinal cells. Philos Trans R Soc Lond1970;259:53–55.Hendry WF, Polani PE, Pugh RCB, et al: 200 infertile males. Correlation of chromosome,histological endocrine and clinical studies. Br J Urol 1976;47:899–908.Joseph A, Thomas IM: A complex rearrangement involving three autosomes in a phenotypicallynormal male presenting with sterility. J Med Genet 1982;19:375–389.Lifschytz E, Lindley DL: The role of X-chromosome inactivation during spermatogenesis. ProcNatl Acad Sci USA 1972;69: 182–186. Åbyholm T, Stray-Pedersen S: Hypospermiogenesis and chromosomal aberrations. A clinicalstudy of azoospermic and oligo-zoospermic men with normal and abnormal karyotype. Int JAndrol 1981;4:546–558.Bandmann HJ, Perwin E: Histology of testes in Klinefelter’s syndrome; in Bandmann HJ, BreitR (eds): Klinefelter’s Syndrome. Berlin, Springer, 1984, pp 131–136.Sasagawa I, Kazama T, Terada T, et al: Hormone profiles in Klinefelter’s syndrome with andwithout testicular epidermoid cyst. Arch Androl 1988;21:205–209. Downloadedby: 54.70.40.11-10/6/20171:49:55AM