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Sex liability to single structural defects

J Fernando, P Arena, D W Smith

American Journal of Diseases of Children (1960)

|October 1, 1978

Summary

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Sex-linked genes influence many birth defects beyond sex development. This study reveals nonrandom sex predilection in 42 localized birth defects, suggesting broader genetic roles in morphogenesis.

Area of Science:

Developmental Biology
Human Genetics
Teratology

Background:

Congenital anomalies exhibit varying frequencies between sexes.
Understanding sex-specific liability aids in identifying etiological factors.

Purpose of the Study:

To investigate the nonrandom sex predilection in localized defects of morphogenesis.
To explore potential genetic and hormonal influences on sex-specific liability.

Main Methods:

Retrospective analysis of 52 cases with single, localized defects of morphogenesis.
Categorization of defects based on sex predilection.

Main Results:

Forty-two of 52 defects (81%) demonstrated a nonrandom sex predilection.

Related Experiment Videos

Examples include male excess in prune belly syndrome and pyloric stenosis, potentially linked to anatomical or hormonal factors.

The majority of sex differences suggest roles for sex chromosome genes (X and/or Y) in morphogenesis.

Conclusions:

Sex-linked genes play a significant role in morphogenesis, extending beyond the development of primary sexual structures.
Further research into sex chromosome influence on congenital anomalies is warranted.