Diagnostic case-control study (1 case for 2 controls). Inclusion of patients with severe insulin resistance syndrome of genetic origin, then inclusion of controls: patients examined for PCOS in day hospital with matching age (+/- 5 years) and Body mass index (+/- 5kg/m2).
Women aged ≥ 18 years and < 45 years ;
Discontinuation of estrogen-progestin therapyfor at least 3 months ;
Signed informed consent ;
Social security affiliation.
- Severe renal insufficiency (GFR < 30 ml/min) ;
Hepato-cellular insufficiency (TP < 50%) ;
Taking corticosteroids or antiretrovirals ;
Menopausal women ;
Parallel
Genetic analysis
GeneticAnalyses of the insulin resistance and lipodystrophy gene panel revealed pathogenic or highly susceptible variants in control PCOS patients
Biological analysis
Other interventionMeasurement of adipokines
imaging test
Other interventionDEXA (Dual-Energy X-ray Absorptiometry)
Standard intervention
Other interventionStandard intervention
Measure of Insulinemia rate during an orally induced hyperglycemia
Measure of Insulinemia rate in order to compare the association between the profile of insulin secretion (Insulinemia , C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Measure of C-peptide rate during an orally induced hyperglycemia
Measure of C-peptide rate in order to compare the association between the profile of insulin secretion (Insulinemia, C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Measure of glycaemia rate during an orally induced hyperglycemia
Measure of glycaemia rate in order to compare the association between the profile of insulin secretion (Insulinemia, C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Research of mutation of the LMNA (FPLD2) gene
Research of mutation of the LMNA (FPLD2) gene in order to compare the association between the profile of insulin secretion (Insulinemia, C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Measure of BMI
Measure of BMI in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Measure of waist circumference
Measure of waist circumference in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Measure of hip circumference
Measure of hip circumference in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Measure of skin fold thickness
Measure of skin fold thickness in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
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