title: Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: From Exempla Saint Joseph Hospital, Denver, Colorado; the University of Texas Southwestern Medical Center, Dallas, Texas; and the Colorado Center for Reproductive Medicine, Denver, Colorado.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Keller
authors.forename: Lalitha
authors.initials: L
authors.lastname: Subramanyam
authors.forename: Vinaya
authors.initials: V
authors.lastname: Simha
authors.forename: Robert
authors.initials: R
authors.lastname: Gustofson
authors.forename: Debra
authors.initials: D
authors.lastname: Minjarez
authors.forename: Abhimanyu
authors.initials: A
authors.lastname: Garg
mesh_terms: D000328:Adult; D005260:Female; D006628:Hirsutism / Q000209:etiology*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D052496:Lipodystrophy, Familial Partial / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009839:Oligomenorrhea / Q000209:etiology*; D010375:Pedigree
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A