Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism

Jennifer Keller, Lalitha Subramanyam, Vinaya Simha, Robert Gustofson, Debra Minjarez, Abhimanyu Garg

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

BACKGROUND: Familial partial lipodystrophy, Dunnigan variety, is a rare autosomal dominant disorder caused by missense mutations in LMNA gene. Individuals are predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. CASE: A 27-year-old Hispanic woman presented with oligomenorrhea and hirsutism. Examination revealed cushingoid facies, significant hirsutism, acanthosis nigricans, and a lean body habitus. Metabolic testing identified diabetes mellitus, dyslipidemia, and steatohepatitis. A diagnosis of familial partial lipodystrophy, Dunnigan variety, was confirmed by the detection of a heterozygous p.Arg482Trp (c.1444C>T) missense mutation in the lamin A/C (LMNA) gene. Subsequently, seven female relatives were diagnosed with familial partial lipodystrophy, Dunnigan variety, four of whom had menstrual irregularities. CONCLUSION: Familial partial lipodystrophy, Dunnigan variety, can present with features similar to polycystic ovary syndrome. Diagnosis is critical because the metabolic complications of the disorder have significant morbidity.

Original languageEnglish (US)
Pages (from-to)427-431
Number of pages5
JournalObstetrics and gynecology
Volume114
Issue number2 PART 2 SUPPL.
DOIs
StatePublished - Aug 2009

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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    Keller, J., Subramanyam, L., Simha, V., Gustofson, R., Minjarez, D., & Garg, A. (2009). Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism. Obstetrics and gynecology, 114(2 PART 2 SUPPL.), 427-431. https://doi.org/10.1097/AOG.0b013e31819feaa9