Summary
To understand better the pathogenesis of ovarian dysgenesis in individuals with abnormalities such as 45,X Turner syndrome, trisomy 13, and trisomy 18, we have examined microscopically the ovaries of 36 infants with a number of chromosomal abnormalities confirmed by karyotype analysis. All infants with trisomy 13, trisomy 18, triploidy, and 45,X were found to have severe ovarian dysgenesis characterized by a virtual absence of primary oocytes. The ovaries of individuals with 21 trisomy and of those with partial deletion or duplication of an autosome demonstrated variable findings, which ranged from complete absence of oocytes to a mild diminution of oocyte numbers. The results of this study suggest that the attrition of germ cells in these infants is a result of faulty meiotic pairing and that ovarian dysgenesis is a more frequent finding in children with karyotypic abnormalities than has been realized previously.
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References
Baker TG (1963) A quantitative and cytological study of germ cells in human ovaries. Proc R Soc Lond [Biol] 158:417–433
Beechey CV, Boer P de, Hoeven FA van der (1976) Egg counts in the ovaries of normal and tertiary trisomic (Ts[113]7OH) female mice. Mouse News Lett 54:53
Benirschke K, Sullivan MM (1966) Corpora lutea in proven mules. Fertil Steril 17:24–33
Burgoyne PS, Baker TG (1984) Meiotic paring and gametogenic failure. In: Evans CW, Dickinson HG (eds) Controlling events in meiosis. Company of Biologists, Cambridge, pp 349–362
Burgoyne PS, Mahadevaiah S, Mittwoch U (1985) A reciprocal autosomal translocation which causes male sterility in the mouse also impairs oogenesis. J Reprod Fertil 75:647–652
Chandley AC, Jones RC, Dott HM, Allen WR, Short RV (1974) Meiosis in interspecific equine hybrids. I. The male mule (Equus asinus × E. caballus) and hinny (E. cabullus × E. asinus). Cytogenet Cell Genet 13:330–341
Gillies CB (1981) Electron microscopy of spread maize pachytene synaptonemal complexes. Chromosoma 83:575–591
Hojager B, Peters H, Byskov G, Faber M (1978) Follicular development in ovaries of children with Down's syndrome. Acta Paediatr Scand 67:637–643
Juberg RC, Hayes ML (1987) Critical region hypothesis: primary amenorrhea in an 18-year-old woman with a complex translocation (X;2;8). Am J Med Genet [Suppl] 3:145–150
Kennedy JF, Freeman MG, Benirschke K (1977) Ovarian dysgenesis and chromosome abnormalities. Obstet Gynecol 50: 13–20
Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC (1987) Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317:125–131
Luciani JM, Devictor M, Boué J, Morazzani M-R, Boué A, Stahl A (1978) Étude de la méiose ovocytaire chez un foetus trisomique 18. Comportement du chromosome surnuméraire et identification du bivalent 18. Ann Génét (Paris) 21:215–218
Mittwoch U, Mahadevaiah S, Olive MB (1981) Retardation of ovarian growth in male-sterile mice carrying an autosomal translocation. J Med Genet 18:414–417
Mittwoch U, Mahadevaiah S, Setterfield LA (1984) Chromosomal anomalies that cause male sterility in the mouse also reduce ovary size. Genet Res 44:219–224
Rong R, Yang X, Cai H, Wei J (1985) Fertile mule in China and her unusual foal. J R Soc Med 78:821–825
Russell P, Altshuler G (1975) The ovarian dysgenesis of trisomy 18. Pathology 7:149–155
Ryder OA, Chemnick LG, Bowling AT, Benirschke K (1985) Male mule foal qualifies as the offspring of a female mule and jack donkey. J Hered 76:379–381
Setterfield LA, Mittwoch U (1986) Reduced oocyte numbers in tertiary trisomic mice with male sterility. Cytogenet Cell Genet 41:177–180
Singh RP, Carr DH (1966) The anatomy and histology of XO human embryos and fetuses. Anat Rec 155:369–384
Speed RM (1984) Meiotic configurations in female trisomy 21 fetuses. Hum Genet 66:176–180
Speed RM (1986a) Prophase pairing in a mosaic 18p-;iso18q human female fetus studied by surface spreading. Hum Genet 72: 256–259
Speed RM (1986b) Oocyte development in XO fetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma 94:115–124
Speed RM (1988) The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78:260–266
Taylor MJ, Short RV (1973) Development of the germ cells in the ovary of the mule and hinny. J Reprod Fertil 32:441–445
Witschi E (1948) Migration of the germ cells of human embryos from the yolk sac to the primitive gonadal folds. Contrib Embryol Carnegie Inst 32:67–80
Wallace BMN, Hultén MA (1983) Triple chromosome synapsis in oocytes from a human fetus with trisomy 21. Ann Hum Genet 47:271–276
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Cunniff, C., Jones, K.L. & Benirschke, K. Ovarian dysgenesis in individuals with chromosomal abnormalities. Hum Genet 86, 552–556 (1991). https://doi.org/10.1007/BF00201540
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DOI: https://doi.org/10.1007/BF00201540