Endocrine Abnormalities in Mosaic Trisomy 16 Adolescent: A Case Report

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.