FOUNDATIONS FOR SEX 



61 



in ring chromosome types, which may dis- 

 play primary and secondary hermaphroditic 

 development. For this to happen the altered 

 nuclei apparently find their way into the 

 region of the egg cytoplasm which is to 

 differentiate into the reproductive tract. As 

 seen in the adults, organ tissue of one chro- 

 mosome type is cell for cell sharply differ- 

 entiated from that of the other chromosome 

 type with regard to sex. These observations 

 indicate that for these mosaics the basic 

 chromosome structure of the cell itself 

 determines its development. In fact most 

 mosaics of this species show this cell-re- 

 stricted differentiation. Several problems 

 arise when these well tested observations 

 are considered in comparison with those 

 now arising in the chromosome mosaics of 

 the sex types in man. It would seem unlikely 

 that the bone marrow cells or for that 

 matter any somatic cells not a part of the 

 reproductive tract would operate to modify 

 the adult sex or a part thereof. Rather the 

 developmental secjuence should start from 

 cell differences within the early developing 

 reproductive tract. Circulatory cells or sub- 

 stances would be of dubious direct signifi- 

 cance from another viewpoint. All cells of 

 the body would ultimately be about equally 

 affected by any cells or elements circulating 

 in the blood. With strong male elements 

 and strong female elements the result ex- 

 pected would be a reduction in sex develop- 

 ment of either sex instead of the sharply 

 differentiated organ systems which are ob- 

 served. This raises the question, are the 

 chromosomally differentiated cell sex mo- 

 saics primary to or secondarily derived 

 from the tissues of the ultimate hermaphro- 

 dites? Study of the cell structure of the sex 

 organs themselves as well as much other 

 information will be necessary to clear up 

 this problem. 



There are, however, other types of con- 

 trolled sex development, as by various 

 genes, which lead to the presence of both 

 male and female sexual systems. Genes 

 for these phenotypes are relatively rare, but 

 once found are transmitted as commonly 

 expected. The inherited hermaphroditic 

 cases in Drosophila are certainly relevant 

 to the testicular feminization syndrome in 

 man. Are they equally pertinent to the 

 highly sporadic hermaphroditic forms just 



considered for man? If so, they indicate a 

 genie basis for these types which would 

 probably be beyond the range of the micro- 

 scope to detect. The low frequency of true 

 hermaphrodites in the human, together with 

 lack of information on possible inheritance 

 mitigates against the genie explanation ; al- 

 though genie predisposition acting in con- 

 junction with rare environmental events as 

 occurs in our Balb/Gw mice (Hollander, 

 Go wen and Stadler, 1956 ) could explain the 

 rare hermaphrodites observed in that par- 

 ticular line of mice and a limited number of 

 its descendants. 



8. XX XY + U Autosome Type 



The XXXY -I- 44 autosome type in the 

 human has been studied by Ferguson-Smith, 

 Johnson and Handmaker (1960) and 

 Ferguson-Smith, Johnston and Weinberg 

 (1960). The two cases described were char- 

 acterized by primary amentia, micro- 

 orchidism and by two sex chromatin bodies 

 in intermitotic nuclei. The patients were 

 similar in having disproportionately long 

 legs; facial, axillary, and abdominal hair 

 scant; pubic hair present; penes and scrota 

 medium to well developed ; small testes and 

 prostates; vasa deferentia and epididymides 

 normally developed on both sides of the 

 body and no abnormally developed Miiller- 

 ian derivatives. Testes findings were like 

 those in Klinefelter cases with chromatin- 

 positive nuclei, small testes with nearly 

 complete atrophy, and hyalinization of 

 seminiferous tubules and islands of abnor- 

 mal and pigmented Leydig cells in the 

 hyalinized areas. The few seminiferous 

 tubules present were lined with Sertoli cells 

 but were without germinal cells. Nuclear 

 chromatin was of female type. About two- 

 fifths of the nuclei had double and two- 

 fifths single sex chromatin. The modal chro- 

 mosome count for bone marrow cells was 

 48, 75 per cent of the cells having this 

 number. Chromosome counts spread from 

 45 to 49. This type, XXXY plus 44 auto- 

 somes, may be looked upon as a superfemale 

 plus a Y or a Klinefelter plus an X chro- 

 mosome. In either case the male potency of 

 the genes in the Y chromosome is able to 

 dominate the female tendencies of XXX to 

 develop nearly complete male phenotypes. 



Both cases had severe mental defects but 



