Obstetrics and gynecology · 2009
Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.
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Keller Jennifer, Subramanyam Lalitha, Simha Vinaya, Gustofson Robert, Minjarez Debra, Garg Abhimanyu
Аннотация
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.
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.