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Related Experiment Videos

Genetic diagnosis in adulthood. A case report

C V Tyler1, P A Kungl, L A Green

  • 1Family Practice Residency, Fairview Hospital, Cleveland, Ohio, USA.

The Journal of Family Practice
|September 30, 1998
PubMed
Summary

Family physicians often overlook genetic diagnoses in adults. A 47-year-old man with recurrent leg ulcers was diagnosed with Klinefelter syndrome (XXY), highlighting the need for lifelong genetic screening and management of associated conditions.

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Area of Science:

  • Genetics
  • Endocrinology
  • Internal Medicine

Background:

  • Family physicians frequently diagnose genetic conditions in children but may neglect them in adults.
  • Delayed diagnosis of genetic syndromes can lead to unmanaged health complications.

Observation:

  • A 47-year-old male presented with recurrent leg ulcers and hypogonadism.
  • The patient was diagnosed with Klinefelter syndrome (47,XXY).

Findings:

  • Klinefelter syndrome (XXY) is often undiagnosed in adulthood.
  • While no cure exists for XXY, associated conditions like osteoporosis and testosterone deficiency are treatable.
  • Management strategies for XXY vary by age and associated comorbidities.

Implications:

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  • This case underscores the importance of considering genetic diagnoses across the lifespan.
  • Early and lifelong diagnosis of Klinefelter syndrome can improve patient outcomes through proactive management of associated health issues.
  • Physicians should be vigilant for genetic syndromes in adult patients presenting with unexplained symptoms.