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Endocrine Abnormalities in Mosaic Trisomy 16 Adolescent: A Case Report.

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Mosaic trisomy 16, a common cause of early pregnancy loss, can present with varied symptoms in survivors. This case highlights mild manifestations and metabolic issues in a 15-year-old boy with mosaic trisomy 16.

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Area of Science:

  • Genetics
  • Human Biology
  • Medical Case Reports

Background:

  • Chromosomal trisomy, including trisomy 16, causes diverse clinical outcomes.
  • Trisomy 16 is the most frequent aneuploidy in first-trimester spontaneous abortions.
  • Survivors often have mosaic variants and may present with anatomical or metabolic abnormalities.

Observation:

  • A 15-year-old male diagnosed postnatally with mosaic trisomy 16 is presented.
  • The patient exhibited mild symptoms with no major anatomical anomalies.
  • Significant metabolic complications were observed, including insulin resistance, obesity, hormonal imbalances, and vitamin D deficiency.

Findings:

  • Mosaic trisomy 16 can manifest with a wide spectrum of clinical presentations.
  • Metabolic abnormalities may be a prominent feature in individuals with mosaic trisomy 16, even without severe anatomical issues.
  • This case expands the understanding of trisomy 16's phenotypic variability.

Implications:

  • Highlights the importance of considering metabolic screening in individuals with mosaic trisomy 16.
  • Contributes to the clinical characterization of trisomy 16, particularly mosaic forms.
  • Informs genetic counseling and patient management strategies for trisomy 16.