Prevalence of reproductive abnormalities among women with familial partial lipodystrophy.

Objective: To compare the risk of having polycystic ovary syndrome (PCOS) or ovarian cysts among women with genetically confirmed familial partial lipodystrophy (FPLD) with that in the general population of healthy women.

Methods: Twenty-five women with FPLD who were 18 to 80 years old were interviewed regarding a history of PCOS or ovarian cysts (composite primary outcome) as well as for secondary outcomes of interest including menstrual irregularities, hirsutism, gynecologic surgical procedures, and fertility or obstetric complications. From the 2005 National Ambulatory Medical Care Survey, 3,326 women, aged 18 to 80 years (control subjects), were assessed for the presence of the primary outcome based on appropriate International Classification of Diseases, Ninth Revision, Clinical Modification codes.

Results: Four of the 25 patients with FPLD (16%) had a history of PCOS or ovarian cysts, in comparison with 14 of the 3,326 control subjects (0.42%), resulting in an age- and body mass index-adjusted odds ratio of 40.6 (95% confidence interval, 12.1 to 136.7; P<.0001) among the patients with FPLD. Furthermore, 5 women with FPLD (20%) required at least 1 oophorectomy during their lifetime, and 6 (24%) had had hysterectomies at a young age (
Conclusion: Women with genetically confirmed FPLD have an increased risk for PCOS and ovarian cysts, as well as early hysterectomies, in comparison with the general population. Therefore, timely involvement of gynecologists in the care of these patients is warranted.