176 N. TAKAGI, S. MAKINO, S. TAKAI, and M. HIKITA [Vol. 41,
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1 No. 2] A Phenotypical XXYY Human Male with Notes on Two Regular Kline f elter Cases*' By Nobuo TAKAGI, Sajiro MAKINO, Shudo TAKAI, **~ and Masahiro HIKITA**) (Comm. by Yoshimaro TANAKA, M.J.A., Feb. 12, 1965) So far as the authors are aware, to date some 15 variants of sex-chromosome complexes have been reported to occur in chromatin positive Klinef elter's syndrome. All cases are generally characterized by cells possessing at least two X chromosomes and a Y chromosome as follows: XXY, XXYY, XXXY, XXXYY, XXXXY, XXXy, XX/ XXY, XY/XXY, XY/XXXY, XXY/XXXY, XXXY/XXXXY, XXXY/ XXXXY/XXXXXY, XXY/XX/XY/X0, XXY/XXxY, XX plus a Y fragment translocated on one of the G chromosomes. Recent literature refers to 12 patients in which there has been reported an XXYY sex-chromosome mechanism. While working with the chromosome survey in patients with congenital disorders, the authors came across a case with an XXYY sex-chromosome constitution. On account of the significance of the Y chromosome in relation to the genetic property as well as to abnormal sexual development, it may not be uncalled for to publish a piece of work dealing with this XXYY Klinefelter case with notes on two regular Klinefelter cases of the same age. They were discovered in the course of sex chromatin screening of mentally subnormal subjects. The XXYY case is the first to be described in Japanese population. Clinical notes: Case 1. The patient was a 14-years-old boy, 162 cm in height and 44 kg in weight. Measurements from pubis to crown and pubis to soles were 75 cm and 87 cm, respectively. His parents were normal and healthy. The maternal and paternal ages at the time of the patient's birth were 38 and 39 years, respectively. His two living siblings were also normal and healthy. Slight epicanthic folds were noted in both eyes and clinodactyly of the fifth fingers was apparent. The penis and scrotum were normal in size, but testes were extremely small for his age. The prostate gland was not palpable and pubic hair was absent. The urinary gonadotropin excretion was remarkably high, while the 17-ketosteroids were within the normal range. Bone age corre- *) Contribution No. 680 from the Zoological Institute, Faculty Hokkaido University, Sapporo. **) Department of Urology, Sapporo Medical College, Sapporo. of Science,
2 176 N. TAKAGI, S. MAKINO, S. TAKAI, and M. HIKITA [Vol. 41, sponded to his chronological age. On biopsy, the testicular tissue (Fig. 1) revealed a few hyalinized tubules showing thickening of the lamina propria, and a few tubules containing many Sertoli cells and a few spermatogonia. The Leydig cells formed large clumps. Cases 2 and 3. Both patients were 13 years old at the time of examination and noted as standard cases of Klinef elter's syndrome. Clinical features are summarized in Table I, together with those of Fig. 1. Testis biopsy specimen from case 1, showing some hyalinized tubules with thickening of the lamina propria and others with many Sertoli cells and large clumps of Leydig cells. Fig. 2. Metaphase plate of a cell (case 1) with 48 chromosomes. Fig. 3. Karyotype analysis of the cellshown in fig. 2 consisting of 44 autosomes and an XXYY sex-chromosome constitution with a heterozygous condition of no. 16.
3 No. 2] Phenotypical XXYY Human Male 177 Table I. Clinical findings of 3 patients under study Table II. Results of sex chromatin test Table III. Results of chromosome studies case 1. Testicular biopsy specimens in the two cases showed wellformed prepuberal seminif erous tubules with thickening of the lamina propria and hyalinization to some extent. A few Leydig cells were noted among them. Cytological findings: Nuclear sex was studied in cells from buccal mucosa after Guard (1959). In the three cases studied, a single peripheral heterochromatic body lying adjacent to the nuclear membrane was observed in most of the nuclei (Table II).
4 17$ N. TAKAGI, S. MAKINO, S. TAKAI, and M. HIKITA [Vol. 41, Chromosomes were studied in cells derived from phytohemagglutinin leucocyte cultures. Chromosome preparations were made according to the routine air-drying technique (Moorhead et al. 1960). Forty well-spread metaphases were used for chromosome counts in each case. Data obtained are furnished in Table III. In case 1, almost all cells under study were found to have 48 chromosomes. Karyotype analyses revealed 16 chromosomes in the C (6-X--12) group and 6 in the G ( Y) group. Based on the occurrence of a single chromatin body in buccal smears, 2 of the former group were most probably X chromosomes. Two of the latter group were naturally accepted as Y chromosomes, because of their larger size than the other four as well of their characteristic manifestation as heteropycnotic chromatids carrying no satellite, and so on. It is then evident that the sex chromosome constitution of case 1 is represented by XXYY (Figs. 2--3). Of further interest is a striking heterozygous condition observed in no. 16 pair (Fig. 3). Analyses of nonmodal cells provided no evidence of mosaicism. Forty-seven chromosomes were found in cells derived from cases 2 and 3, with the characteristic complement generally reported in the regular Klinef elter's syndrome case, consisting of 44 autosomes and XXY sex-chromosomes. Remarks: Since the first report by Muldal and Ockey (1960), an XXYY sex chromosome complement has been reported in 12 individuals so far referred to in the literature (Muldal and Ockey 1960, Carr et al. 1961, Ellis et al. 1961, Vague et al. 1961, Laurence et al. 1963, Barr et al. 1964, Tabata et al. 1964, Court Brown 'et al. 1964, Maclean et al. 1962). Except a newborn baby who was apparently normal male (Court Brown et al. 1964) and a case reported by Ellis et al. (1961), the remaining 10 patients carried several characteristics of Klinef elter's syndrome such as small testes with otherwise normal genitalia, aspermatogenesis and increased urinary excretion of gonadotropin. Testicular biopsies in 6 of the 10 cases revealed typical tubular dysgenesis and clumps of Leydig cells. Ellis et al. (1961) observed no Leydig cells in the testes of their patient. Eleven of these 12 cases with XXYY and 4 out of 10 cases with XYY were found to have moderate to severe mental deficiency. However, it remains unknown at the present status whether or not double Y condition such as in XXYY and XYY is responsible for the cause of mental deficiency. Barr et al. (1964) suggested that an XXYY complex may have some influence upon bone maturation, because skeletal anomalies such as abnormal body proportions, talipes equinovarus, ~~oliosis and large
5 No. 2] Phenotypical XXYY Human Male 179 hands and feet were found in some XXYY patients. Accumulation of the related data is needed before any decided statement on the effect of an XXYY sex-mechanism can be put forward. The present XXYY patient showed nothing phenotypically different from regular Klinef elter patients with an XXY complex. It was shown that the patients having an XXYY sex-complex were in general indistinguishable clinically from chromatin positive Klinef elter patients with an XXY complex. On the other hand, Ferguson- Smith (1963) and Barr et al. (1964) expressed a view that XXYY patients may show more marked disproportion than XXY patients. The phenotype of patients with an XYY complex so far reported varies from the absence of congenital malformations to the presence of features that as yet cannot be considered to be very much specific (Hustinx and van Olphen 1963). Therefore the addition of a Y chromosome to the XY or XXY complex seems to exert no specific influence. This assumption was supplemented by the findings of an XXXYY Klinef elter patient because this patient is phenotypically similar to XXXY patients (Bray and Sr. Ann Josephine 1963). It seems likely that the human Y chromosome is essential for masculine development and the masculinizing effect is so strong that a single Y chromosome is sufficient to overrule the presence of two or more X elements. The origin of the XXYY sex-chromosome constitution has been discussed by previous authors (Ellis et al. 1961, Carr et al. 1961, Stewart 1962). Theoretically, a possible interpretation leading to this type of chromosome anomaly, is based on various types of paternal and maternal meiotic and mitotic non-disjunctions occurring in a normal or abnormal zygote. To date, no cytological or genetical demonstration has been presented to answer for the above features. Heterozygous manifestation of no. 16 pair has been detected in normal and healthy subjects (Jacobs et al. 1964, Hall 1964), as well as in patients with cardiovascular disorders (Sakaki et al. 1963). The present XXYY case showed a similar anomaly, but carried no abnormality other than those characteristic to Klinef elter's syndrome. In summary, an XXYY Klinef elter patient with a heterozygous manifestation of no. 16 chromosome has been described together with some clinical and diagnostic features, and compared with two regular Klinef elter cases. The role of the Y chromosome was discussed in reference to related cases previously reported. The authors are greatly obliged to Dr. Yoshimaro Tanaka, M.J.A., for his valuable criticism, and also grateful to Dr, Motomichi Sasaki for his important advice,
6 180 N. TAKAGI, S. MAKING, S. TAKAI, and M. HIKITA [Vol. 41, References Barr, M.L., D.H. Carr, H.C. Soltan, R.G. Wiens, and E.R. Plunkett: Canad. Med. Assoc. J., 90, (1964). Bray, P., and Sr. Ann Josephine: J.A.M.A., 183, (1963). Carr, D.H., M.L. Barr, and E.R. Plunkett: Canad. Med. Assoc. J., 84, (1961). Court Brown, W.M., D.G. Harnden, P.A. Jacobs, N. Maclean, and D.J. Mantle: P.C.M.R.C. Secial report series No. 305 (1964). Ellis, J.R., O.J. Miller, L.S. Penrose, and G.E.B. Scott: Ann. hum. Genet Lond., 25, (1961). Ferguson-Smith, M.A: Proc. Royal Soc. Med., 56, (1963). Guard, H.R.: Amer. J. Clin. Path., 32, (1959). Hall, B.: Acta paediat, suppl., 154, 5-92 (1964). Hustinx, T. W. J., and A. H. F. van Olphen: Genetica, 34, (1963). Jacobs, P. A., M. Brunton, and W. M. Court Brown: Ann. hum. Genet. Lond., 27, (1964). Laurence, K. M., J. Ishmael, and T. S. Davies: Cytogenetics, 2, (1963). Maclean, N., J. M. Mitchell, D. G. Harnden, J. Williams, P. A. Jacobs, K. E. Buckton, A. G. Baikie, W. M. Court Brown, J. A. McBride, J. A. Strong, H. G. Close, and D. C. Jones: Lancet i, (1962). Moorhead, P. S., P. C. Nowell, W. J. Mellman, D. M. Battips, and D. A. Hungerford: Exptl. Cell Res., 20, (1960). Muldal, S., and C. H. Ockey: Lancet ii, (1960). Sasaki, M. S., S. Makino, and T. Kajii: Proc. Japan Acad., 39, (1963). Stewart, J. S. S.: Nature, 194, (1962). Tabata, T., S. Fedoroff, and J. W. Gerrard: Canad. Med. Assoc. J., 90, (1964). Vague, J., R. Simonin, A. Stahl, M. Muller, H. Payan, and R. Fenasse: Ann. Endocrin., 22,
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