Perinatal, metabolic, and reproductive features inPPARG-related lipodystrophy
Authors' conclusion
Lipodystrophy-related PPARG variants induce early metabolic complications. Our results suggest that placental expression of PPARG pathogenic variants carried by affected foetuses could impair prenatal growth and parturition. This justifies careful pregnancy monitoring in affected families.
Study context
- Population
- Patients with PPARG-related lipodystrophy referred to a National Rare Diseases Reference Centre; 15 unrelated families, 18 women, median age 43 years15 unrelated families
- Participants
- 26 patients
- Exposure
- Maternal dysmetabolic environment present vs absent
- Exposedn = 8
- Non-exposedn = 9reference
- Outcome
- Metabolic features in heterozygous patients aged ≥16 (n = 24)
Methodological detailssingle referral centre, current and retrospective data
- Single referral centre
- Current and retrospective data
Main finding
As reported in the abstract
- Diabetes
- 92%
- Partial lipodystrophy
- 96%
- Median age at diagnosis (diabetes and partial lipodystrophy)
- 24 and 37 years
- Hypertriglyceridaemia
- 78%
- Liver steatosis
- 71%
- Hypertension
- 58%
- Mean BMI
- 26 ± 5.0 kg/m²
Observational data: associations, not effects.
Further findings
Median gestational age at birth
| Outcome | Exposed | Non-exposed |
|---|---|---|
| Small for gestational age | — not stated in the abstract | 85.7% |
— not stated in the abstract
Reproductive features in women (n = 16)
- Acute pancreatitis
- 6
- PCOS
- 12
- Women with ≥1 pregnancy, all complicated
- 11
- Pregnancies complicated by diabetes
- 8
- Pregnancies complicated by hypertension
- 4
- Pregnancies complicated by hypertriglyceridaemia
- 10
Median gestational age at birth
- Low in both groups
Birth weight
- Birth weight higher in patients exposed to a maternal dysmetabolic environment
Original publication
Perinatal, metabolic, and reproductive features inPPARG-related lipodystrophy. Eur J Endocrinol. Published 21 February 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →