FOUNDATIONS FOR SEX 



57 



quired for an autosomal recessive. The hy- 

 pothesis advanced by Witschi, Nelson and 

 Segal (1957), that the presence of an auto- 

 somal gene in the mother converts all her 

 male offspring into phenotypes of more or 

 less female constitution, in a manner com- 

 parable to that of the Ne gene in Dro- 

 sophila (Gowen and Nelson, 1942) which 

 causes the elimination of all the female type 

 zygotes, is also made unlikely by the ratios 

 of normal to testicular feminization pheno- 

 types observed in the progenies of these 

 affected mothers. The evidence favors a 

 simple autosomal dominant, acting only in 

 the male zygotes and perhaps balanced by 

 some genes of the X chromosome, which 

 have sufficient influence on the developing 

 male zygote to guide it toward an inter- 

 mediate to nearly female phenotype. The 

 observations of Puck, Robinson and Tjio 

 ( 1960) indicate that the action of a gene for 

 this condition may not be entirely absent 

 in the female, because in heterozygous con- 

 dition in an XX individual it seemed to 

 delay menarche as much as 8 years. If this 

 delay be diagnostic for the heterozygote, it 

 will further assist in the genetic analysis of 

 this problem. Evidence on this point should 

 be a part of the genetic studies. 



Cases closely similar to those described 

 by Jacobs, Baikie, Court Brown, Forrest, 

 Roy, Stewart and Lennox (1959) are 

 presented by Sternberg and Kloepfer 

 (1960). The patients show no trace of mas- 

 culinity. They are remarkably uniform in 

 anatomic expression. Except for failure to 

 menstruate due to lack of uteri they un- 

 dergo normal female puberty. Cryptorchid 

 testes, usually intra-abdominal, if removed 

 precipitate menopause symptoms. Four un- 

 related cases were found in this one study 

 with 7 additional cases traced through pedi- 

 gree information. A total of 11 affected in- 

 dividuals was found in 6 sibships having 

 26 siblings of whom 5 were normal males. 

 In each kindred the inheritance was com- 

 patible with that of a sex-linkecl recessive 

 gene. A chromosomal study of a thyroid 

 tissue culture from one case revealed 46 

 chromosomes with normal XY male con- 

 figuration. The individuals observed were 

 designated as ''simulant females." 



4- Superfemale 



The human superfemale has been recog- 

 nized by Jacobs, Baikie, Court Brown, Mac- 

 Gregor, Maclean and Harnden (1959) in 

 a girl of medium height and weight, breasts 

 underdeveloped, genitalia infantile, vagina 

 small, and uterocervical canal 6 cm. in 

 length. Ovaries appeared postmenopausal 

 with normal stroma, and as indicated by a 

 biopsy specimen, deficient in follicle forma- 

 tion. Menstruation was thought to have 

 begun at age 14, but was irregular, occurring 

 every 3 to 4 months and lasting 3 days. The 

 last spontaneous menstruation was at 19. 

 Estrogen therapy caused some development 

 of the breasts and external genitalia, vagina, 

 and uterus with slight uterine bleeding. The 

 patient's parents were above 40 years of 

 age, mother 41, at time of her daughter's 

 birth. 



Examination of sternal marrow cultures 

 showed 47 chromosomes in over 80 per cent 

 of the cells examined. The extra chromo- 

 some was the X, the chromosomal type 

 being XXX plus 22 pairs of autosomes. 

 Buccal smears showed 47 per cent of nuclei 

 contained a single chromatin body and 14 

 per cent contained 2 chromatin bodies as 

 expected of a multiple XX or XXX geno- 

 type. In comparison, 25 smears from 20 nor- 

 mal women had 36 to 51 per cent chromatin 

 positive cells but none of these contained 

 2 chromatin bodies. Two chromatin bodies 

 were seen in some cells of the ovarian stro- 

 mal tissue. The patient showed a lack of 

 vigor, mentally was subnormal, was under- 

 developed rather than overly developed in 

 the phenotypic sexual characteristics. Ex- 

 amination of the patient's mother showed 

 her to be XX plus 22 pairs of autosomes, 

 the normal 46 chromosomes. 



Other cases show that types with XXX 

 plus 22 pairs of autosomes are of female 

 l)henotype but may vary in fertility and 

 development of the secondary sexual char- 

 acteristics from nonfunctional to functional 

 females bearing children ( Stewart and San- 

 derson, 1960; Eraser, Campbell, MacGilli- 

 vray, Boyd and Lennox, 1960). The triplo 

 X condition in man has a greater range of de- 

 velopment and fertility than in Drosophila. 

 In man ovaries may develop spontaneously. 

 In Drosophila they require transplantation 



