Ovarian dysgenesis in individuals with chromosomal abnormalities (original) (raw)

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.

Access this article

Log in via an institution

Subscribe and save

• Get 10 units per month
• Download Article/Chapter or eBook
• 1 Unit = 1 Article or 1 Chapter
• Cancel anytime Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

• Baker TG (1963) A quantitative and cytological study of germ cells in human ovaries. Proc R Soc Lond [Biol] 158:417–433
  Google Scholar
• 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
  Google Scholar
• Benirschke K, Sullivan MM (1966) Corpora lutea in proven mules. Fertil Steril 17:24–33
  Google Scholar
• 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
  Google Scholar
• 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
  Google Scholar
• 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
  Google Scholar
• Gillies CB (1981) Electron microscopy of spread maize pachytene synaptonemal complexes. Chromosoma 83:575–591
  Google Scholar
• 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
  Google Scholar
• 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
  Google Scholar
• Kennedy JF, Freeman MG, Benirschke K (1977) Ovarian dysgenesis and chromosome abnormalities. Obstet Gynecol 50: 13–20
  Google Scholar
• 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
  Google Scholar
• 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
  Google Scholar
• 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
  Google Scholar
• 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
  Google Scholar
• Rong R, Yang X, Cai H, Wei J (1985) Fertile mule in China and her unusual foal. J R Soc Med 78:821–825
  Google Scholar
• Russell P, Altshuler G (1975) The ovarian dysgenesis of trisomy 18. Pathology 7:149–155
  Google Scholar
• 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
  Google Scholar
• Setterfield LA, Mittwoch U (1986) Reduced oocyte numbers in tertiary trisomic mice with male sterility. Cytogenet Cell Genet 41:177–180
  Google Scholar
• Singh RP, Carr DH (1966) The anatomy and histology of XO human embryos and fetuses. Anat Rec 155:369–384
  Google Scholar
• Speed RM (1984) Meiotic configurations in female trisomy 21 fetuses. Hum Genet 66:176–180
  Google Scholar
• Speed RM (1986a) Prophase pairing in a mosaic 18p-;iso18q human female fetus studied by surface spreading. Hum Genet 72: 256–259
  Google Scholar
• 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
  Google Scholar
• Speed RM (1988) The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78:260–266
  Google Scholar
• Taylor MJ, Short RV (1973) Development of the germ cells in the ovary of the mule and hinny. J Reprod Fertil 32:441–445
  Google Scholar
• 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
  Google Scholar
• Wallace BMN, Hultén MA (1983) Triple chromosome synapsis in oocytes from a human fetus with trisomy 21. Ann Hum Genet 47:271–276
  Google Scholar

Download references

Author information

Author notes

1. Christopher Cunniff
   Present address: Department of Pediatrics, Slot 512, University of Arkansas for Medical Sciences, 4301 West Markham Street, 72205, Little Rock, AR, USA

Authors and Affiliations

1. Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California, USA
   Christopher Cunniff & Kenneth Lyons Jones
2. Department of Pathology, University of California, San Diego, California, USA
   Kurt Benirschke
3. Department of Reproductive Medicine, University of California, San Diego, California, USA
   Kurt Benirschke

Authors

1. Christopher Cunniff
   You can also search for this author inPubMed Google Scholar
2. Kenneth Lyons Jones
   You can also search for this author inPubMed Google Scholar
3. Kurt Benirschke
   You can also search for this author inPubMed Google Scholar

Rights and permissions

About this article

Cite this article

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

Download citation

• Received: 05 February 1990
• Revised: 05 September 1990
• Issue Date: April 1991
• DOI: https://doi.org/10.1007/BF00201540

Keywords