Endocrine Abstracts (2008) 15 P114

Dunnigan Kobberling syndrome: a case report

Probal Moulik, Haroon Siddique & Andrew Macleod

Royal Shrewsbury Hospital, Shrewsbury, UK.

Introduction: We present a case of Dunnigan Kobberling type of lipodystrophy in a young female.

Case report: A 25-year-old woman presented with hirsuitism, secondary amenorrhoea, increase in neck size and reduction in breast size. On examination she had moon like facies, broad neck, small breasts and well defined male pattern musculature. Testosterone and lutenising hormone were marginally raised, serum alanine transminase was raised. Overnight dexamethasone test and thyroid function were normal. Cholesterol, triglyceride and fasting glucose were raised. Transvaginal ultrasound revealed polycystic ovaries. CT scan of the abdomen was normal and genetic analysis showed female karyotype. The final diagnosis was partial lipodystrophy of Dunnigan Kobberling type. She was commenced on low calorie and low fat diet, metformin, eflornithine cream and leptin therapy was planned pending the results of genetic analysis for Lamin A gene.

Discussion: The lipodystrophies can be classified into familial and acquired types. The main subtypes of familial lipodystrophies are congenital generalized lipodystrophy and familial partial lipodystrophy eg. Dunnigan Kobberling type. Dunnigan Kobberling type is an autosomal dominant disorder characterized by loss of subcutaneous fat from the extremities and trunk with the exception of vulva giving an appearance of vulvar hypertrophy and excess fat accumulation in the face and neck. Diabetes mellitus, hyperlipoproteinaemia, and acanthosis nigricans are present to a variable degree in some but not all patients with familial lipodystrophy. The exact molecular mechanism remains unclear although mutation in the LMNA gene that codes the nuclear envelope protein lamin A/C gene may be the potential etiology.

Cardiovascular disease risk, pancreatitis and glomerulonehritis are some of the complications of this rare syndrome.

Conclusion: Dunnigan Kobberling syndrome, is a rare form of autosomal dominant lipodystophy. A clear knowledge of this condition will help the practising physician to identify and address various life threatening metabolic and cardiavascular complications.

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