Partial lipodystrophy syndromes are characterised by a selective paucity of subcutaneous adipose tissue on the trunk and limbs but excessive fat on the face, neck, supraclavicular areas and pelvis. Metabolic complications include insulin resistance and polycystic ovary syndrome (PCOS). There have been no previous reports of genital disfiguremment in these conditions.
We present the case of a 27 years old female, who initially presented to the gynaecology service with secondary amenorrhoea. She was diagnosed with PCOS and commenced on ethinylestradiol/cyproterone (Dianette). She was noted to have vulval swelling, which was thought to be secondary to lymphoedema.
Following referral to the department of endocrinology, she was noted to have acanthosis nigricans, and complete absence of limb fat. Genetic analysis confirmed the diagnosis of the Dunnigan-Kobberling variant of partial lipodystrophy. Laboratory testing revealed increased free testosterone levels, impaired glucose tolerance and dyslipidaemia. Review of magnetic resonance imaging (MRI) scans revealed that her greatly enlarged labia majora were due to excessive adipose deposition.
She is currently being treated with lifestyle measures, Dianette, metformin and rosiglitazone and is metabolically stable. Her genital disfigurement is disabling because of physical discomfort and cosmetic concerns. She has been referred for plastic surgery, although it is likely that the problem will recur. Pelvic fat accumulation in lipodystrophy syndromes has previously been documented in imaging studies1, but to our knowledge, this is the first report of a significant clinical outcome resulting from this effect.
1. Garg A, Peshock RM & Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 84: 170174, 1999.
01 - 05 Apr 2006
European Society of Endocrinology