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Genetic testing in pediatric endocrine pathology.

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Genetic testing is crucial for diagnosing rare endocrine diseases, guiding treatment, and understanding disease progression. Precise genetic analysis ensures accurate etiological diagnosis and improves patient outcomes.

Keywords:
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Area of Science:

  • Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Genetic testing is essential for precise diagnosis in endocrine diseases.
  • It aids in understanding disease evolution, prognosis, and targeted therapy.
  • Various cytogenetic and molecular techniques are employed.

Purpose of the Study:

  • To outline the role and methodologies of genetic testing in diagnosing endocrine disorders.
  • To detail genetic testing strategies for specific conditions like disorders of sex development, short stature, and genetic obesity.
  • To emphasize the importance of appropriate test indication for cost-effectiveness.

Main Methods:

  • Classical cytogenetic analysis
  • Molecular cytogenetic analysis
  • Molecular biology techniques including karyotyping, SRY gene analysis, chromosomal microarray, and next-generation sequencing (NGS).

Main Results:

  • Genetic testing provides etiological diagnoses for endocrine diseases.
  • Specific tests are indicated based on clinical and paraclinical signs for disorders of sex development, short stature, and obesity.
  • NGS and chromosomal microarray are key for complex cases and suspected monogenic forms.

Conclusions:

  • Genetic testing is indispensable for accurate diagnosis and management of genetic endocrine diseases.
  • Strategic application of genetic tests, particularly in expert centers, optimizes diagnostic yield and cost-benefit.
  • Tailored genetic analysis based on clinical presentation is vital for rare endocrine conditions.