脂肪代谢障碍：一例月经过少和多毛症患者的罕见诊断。
Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.
作者信息
Keller Jennifer, Subramanyam Lalitha, Simha Vinaya, Gustofson Robert, Minjarez Debra, Garg Abhimanyu
机构信息
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.
出版信息
Obstet Gynecol. 2009 Aug;114(2 Pt 2):427-431. doi: 10.1097/AOG.0b013e31819feaa9.
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.
背景
邓尼根型家族性部分脂肪营养不良是一种罕见的常染色体显性疾病，由LMNA基因突变中的错义突变引起。患者易患胰岛素抵抗及其并发症，包括多囊卵巢综合征的特征。
病例
一名27岁的西班牙裔女性因月经过少和多毛症前来就诊。检查发现其面容呈库欣样，多毛明显，有黑棘皮症，体型消瘦。代谢检查确诊为糖尿病、血脂异常和脂肪性肝炎。通过检测层粘连蛋白A/C（LMNA）基因中的杂合p.Arg482Trp（c.1444C>T）错义突变，确诊为邓尼根型家族性部分脂肪营养不良。随后，七名女性亲属被诊断为邓尼根型家族性部分脂肪营养不良，其中四人有月经不调症状。
结论
邓尼根型家族性部分脂肪营养不良可表现出与多囊卵巢综合征相似的特征。诊断至关重要，因为该疾病的代谢并发症具有较高的发病率。
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