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Fertility and Obstetrical Complications in Women with LMNA-Related Familial Partial Lipodystrophy

Departments of Endocrinology and Metabolism (M.C.V., D.V.-D., F.D.-F., J.L.W.), Diabetology (C.F.), and Biochemistry and Hormones (P.P.), Lille University Hospital, and Institut National de la Santé et de la Recherche Médicale U859 (M.C.V.), 59037 Lille France; UPMC (J.C., OL., C.V.), University of Paris 06, and Institut National de la Santé et de la Recherche Médicale (J.C., OL., C.V.), UMR_S 893Eq9, and Département de Biologie Moléculaire (O.L.), Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, F-75012, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Tenon (J.C., C.V.), Service de Biochimie et Hormonologie, F-75020, Paris, France; Department of Obstetrics (A.S.V.), General Hospital, Lens 62 300, France; and Department of Endocrinology (A.C.H., B.D.), Reims University Hospital, Reims 51092, France

Address all correspondence and requests for reprints to: M. C. Vantyghem, Service d’Endocrinologie-Métabolisme Clinique Linquette, 6 Rue du Pr Laguesse, Centre Hospitalier Régional et Universitaire de Lille F-59037, Lille, France. E-mail: mc-vantyghem{at}chru-lille.fr.

Objective: Familial partial lipodystrophy due to LMNA (lamin A/C) mutations is a rare disorder characterized by a selective loss of adipose tissue and insulin resistance. Dyslipidemia and severe diabetes often occur during its evolution. Only isolated and contradictory case reports have been published on the obstetrical prognosis in lipodystrophy. The aim of our study was to compare the fertility and occurrence of obstetrical complications of women with familial partial lipodystrophy due to LMNA (lamin A/C) mutations with those of nonaffected relatives, women from the general population, and women with polycystic ovary syndrome (PCOS).

Material and Methods: Data were obtained from clinical follow-up of seven families with patients exhibiting mutations in LMNA (five R482W, one R482Q, one R439C) (14 affected among 48 women).

Results: The mean number of live children per woman was 1.7 in affected patients vs. 2.8 in nonaffected relatives. Fifty-four percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 28% suffered from infertility, 50% experienced at least one miscarriage, 36% developed gestational diabetes, and 14% experienced eclampsia and fetal death. Mean blood leptin level was significantly lower in LMNA-mutated patients than in nonaffected relatives (5.0 ± 3.8 ng/ml vs 14.3 ± 3.6; P < 0.001) despite similar body mass index (21.0 ± 4.2 vs 22.4 ± 2.2; P = 0.49).

Conclusion: In these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar body mass index. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes, and obstetrical complications and require reinforced gynecological and obstetrical care.