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Congenital Generalized Lipodystrophy in a Division 1 Female Sprinter.

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A rare congenital lipodystrophy mimicked a stress fracture and menstrual irregularities in a young female athlete. This case underscores the importance of comprehensive metabolic evaluation for athletes with persistent symptoms.

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Area of Science:

  • Endocrinology
  • Sports Medicine
  • Radiology

Background:

  • Congenital lipodystrophy is a rare genetic disorder characterized by a lack of adipose tissue.
  • Athletes may present with non-specific symptoms that can mask underlying metabolic conditions.
  • Metabolic derangements can manifest in bone health and reproductive cycles.

Purpose of the Study:

  • To report a case of congenital lipodystrophy presenting as a stress fracture and metrorrhagia.
  • To highlight the diagnostic challenges in identifying rare metabolic disorders in athletes.
  • To emphasize the importance of a thorough metabolic workup in athletes with unusual symptoms.

Main Methods:

  • Case report of a 21-year-old female Division 1 sprinter.
  • Magnetic resonance imaging (MRI) for evaluation of foot pain and bone marrow signal.
  • Metabolic workup including lipid profile and hemoglobin A1c.

Main Results:

  • Initial MRI showed a stress fracture of the second metatarsal with hyperactive red marrow.
  • Follow-up MRI revealed serous atrophy of bone marrow.
  • Metabolic workup revealed severe hypertriglyceridemia ( > 4000 mg/dL) and uncontrolled diabetes (HbA1c 10.9%).

Conclusions:

  • Congenital lipodystrophy can present insidiously with symptoms mimicking common athletic injuries.
  • Persistent bone pain and menstrual irregularities in athletes warrant a comprehensive metabolic investigation.
  • Early diagnosis and management of lipodystrophy are crucial for preventing severe metabolic complications.