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Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)

RECRUITINGN/ASponsored by Assistance Publique - Hôpitaux de Paris
Actively Recruiting
PhaseN/A
SponsorAssistance Publique - Hôpitaux de Paris
Started2026-07-21
Est. completion2028-01
Eligibility
Age18 Years – 45 Years
SexFEMALE
Healthy vol.Accepted

Summary

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).

Eligibility

Age: 18 Years – 45 YearsSex: FEMALEHealthy volunteers accepted
Inclusion Criteria:

* Women aged ≥ 18 years and \< 45 years ;
* Discontinuation of estrogen-progestin therapyfor at least 3 months ;
* Signed informed consent ;
* Social security affiliation.

Case (n=25):

\- Patient with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene.

Control (n=50), :

\- patient consulting for polycystic ovary syndrome (PCOS according to the Rotterdam criteria) in day hospital matched on age +/-5 years and BMI+/-5 kg/m2.

Exclusion Criteria:

* \- Severe renal insufficiency (GFR \< 30 ml/min) ;
* Hepato-cellular insufficiency (TP \< 50%) ;
* Taking corticosteroids or antiretrovirals ;
* Menopausal women ;
* Taking estrogen-progestin therapy;
* Diabetic patients on insulin : type 1 diabetes or pancreatectomised patients
* Other known causes of hyperandrogenism (21-hydroxylase block, Cushing's syndrome, ovarian tumor).
* Pregnant woman
* Breastfeeding woman

Conditions4

CancerFamilial Partial LipodystrophyLMNA (LaMin Nuclear A) Related DisordersPolycystic Ovary Syndrome

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