title: Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.
abstract: 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).
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors: Service d'Endocrinologie-Métabolisme Clinique Linquette, Centre Hospitalier Régional et Universitaire de Lille, 6 Rue du Pr Laguesse, Lille, France. mc-vantyghem@chru-lille.fr
authors: M C
authors: MC
authors: Vantyghem
authors: D
authors: D
authors: Vincent-Desplanques
authors: F
authors: F
authors: Defrance-Faivre
authors: J
authors: J
authors: Capeau
authors: C
authors: C
authors: Fermon
authors: A S
authors: AS
authors: Valat
authors: O
authors: O
authors: Lascols
authors: A C
authors: AC
authors: Hecart
authors: P
authors: P
authors: Pigny
authors: B
authors: B
authors: Delemer
authors: C
authors: C
authors: Vigouroux
authors: J L
authors: JL
authors: Wemeau
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D016640:Diabetes, Gestational / Q000453:epidemiology; D005190:Family; D005260:Female; D005298:Fertility / Q000502:physiology*; D005500:Follow-Up Studies; D006801:Humans; D007247:Infertility, Female / Q000453:epidemiology* / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000097:blood / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A