Hypertrophic pyloric stenosis in twins: same genes or same environments?

Area of Science:

• Pediatric Surgery
• Medical Genetics
• Developmental Biology

Background:

• Infantile hypertrophic pyloric stenosis (IHPS) is a common congenital anomaly of the stomach.
• The precise etiology of IHPS remains largely unknown, posing challenges for prevention and treatment.
• Twin studies are often utilized to investigate the genetic versus environmental contributions to disease development.

Observation:

• A rare case of IHPS is presented in a pair of dizygotic (fraternal) male twins.
• This contrasts with previously reported twin cases of IHPS, which predominantly involved monozygotic (identical) twins.
• A comprehensive literature review was conducted focusing on twin concordance rates and etiological hypotheses for IHPS.

Findings:

• The occurrence of IHPS in dizygotic twins challenges the assumption that genetic factors are the sole or primary drivers of the disease.
• Analysis of existing literature suggests that while genetic predisposition may play a role, environmental or acquired factors likely contribute significantly to IHPS development.
• The presented case and literature review indicate a complex interplay of genetic and non-genetic factors in the pathogenesis of IHPS.

Implications:

• Findings suggest that etiological models for IHPS should incorporate both genetic susceptibility and potential environmental triggers.
• Further research into specific genetic markers and environmental influences is warranted to elucidate the complex origins of IHPS.
• Understanding the multifactorial nature of IHPS can lead to improved diagnostic approaches and potentially novel therapeutic strategies.