Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.
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.
Keller
Jennifer
J
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.
Subramanyam
Lalitha
L
Simha
Vinaya
V
Gustofson
Robert
R
Minjarez
Debra
D
Garg
Abhimanyu
A
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
C494847:LMNA protein, human; D034904:Lamin Type A