ADVANCED MATERNAL AGE AND PREVALENCE OF CHROMOSOMAL ABNORMALITIES IN CASES OF DISORDERS OF SEX DEVELOPMENT (DSD)
Main Article Content
Keywords
.
Abstract
Disorders of Sex Development (DSD) encompass a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. While DSDs are primarily genetic or sporadic in origin, emerging evidence suggests that advanced maternal age (AMA) may influence the prevalence and expression of chromosomal abnormalities in DSD cases. This review explores the association between AMA and chromosomal anomalies contributing to DSDs, with an emphasis on meiotic nondisjunction, sex chromosome aneuploidy, and diagnostic implications in the prenatal and neonatal period.
References
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders.Arch Dis Child. 2006; 91:554-63.
2. Houk CP, Hughes IA, Ahmed SF, Lee PA. Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics. 2006; 118(2):753-7.
3. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118 (2): 488-500.
4. Jacobs PA, et al. Distribution of human karyotypes ascertained at prenatal diagnosis. PrenatDiagn. 1992;12(5):347–363.
5. Ferguson-Smith MA. The influence of maternal age on the occurrence of sex chromosome abnormalities. Hum Genet. 1974;25(3):309–334.
6. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet. 2001;2(4):280–291.
7. de la Chapelle A. The Y chromosome in the intersex condition. Birth Defects Orig Artic Ser. 1977;13(3C):125–142.
8. Nagaoka SI, et al. Oocyte-specific differences in meiotic division and aneuploidy rates in relation to maternal age. Reproduction. 2012;144(3):309–317.
9. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799–808.
10. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000; 12:151-66.
11. Sax L. How common is intersex? A response to Anne Fausto-Sterling. J Sex Res. 2002; 39:174-8.
12. Sipila P, Von Wendt L, Hartikainen Sorri AL. The grand multipara still an obstetrical challenge? Arch Gynecol Obestet 1990;247(4):187–95.
13. Suguna Bai NS, Mascarene M, Syamalan K, Nair PM. An etiological study of congenital malformation in the newborn. Indian Pediatr 1982; 19: 1003-7.
14. Dutta V, Chaturvedi P. Congenital malformations in rural Maharashtra. Indian Pediatr 2000;37:998-1001.
15. Hussain N, Chaghtai A, Herndon CDA, Herson VC, Rosenkrantz ST, McKenna PH. Hypospadias and Early Gestation Growth Restriction in Infants. Pediatrics 2002; 109(3).
2. Houk CP, Hughes IA, Ahmed SF, Lee PA. Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics. 2006; 118(2):753-7.
3. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118 (2): 488-500.
4. Jacobs PA, et al. Distribution of human karyotypes ascertained at prenatal diagnosis. PrenatDiagn. 1992;12(5):347–363.
5. Ferguson-Smith MA. The influence of maternal age on the occurrence of sex chromosome abnormalities. Hum Genet. 1974;25(3):309–334.
6. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet. 2001;2(4):280–291.
7. de la Chapelle A. The Y chromosome in the intersex condition. Birth Defects Orig Artic Ser. 1977;13(3C):125–142.
8. Nagaoka SI, et al. Oocyte-specific differences in meiotic division and aneuploidy rates in relation to maternal age. Reproduction. 2012;144(3):309–317.
9. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799–808.
10. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000; 12:151-66.
11. Sax L. How common is intersex? A response to Anne Fausto-Sterling. J Sex Res. 2002; 39:174-8.
12. Sipila P, Von Wendt L, Hartikainen Sorri AL. The grand multipara still an obstetrical challenge? Arch Gynecol Obestet 1990;247(4):187–95.
13. Suguna Bai NS, Mascarene M, Syamalan K, Nair PM. An etiological study of congenital malformation in the newborn. Indian Pediatr 1982; 19: 1003-7.
14. Dutta V, Chaturvedi P. Congenital malformations in rural Maharashtra. Indian Pediatr 2000;37:998-1001.
15. Hussain N, Chaghtai A, Herndon CDA, Herson VC, Rosenkrantz ST, McKenna PH. Hypospadias and Early Gestation Growth Restriction in Infants. Pediatrics 2002; 109(3).