SCR-LIP-000315 · Claim · machine-readable JSON →

Whole-exome sequencing in a family with autosomal dominant nonsyndromic primary lipedema identified the AKR1C1 c.638T>A (p.L213Q) variant segregating perfectly with the disease in 3 affected members (puberty onset in all) and absent in 9 unaffected members, with molecular dynamics and QSAR predicting partial loss of 20α-HSD function that may promote lipogenesis via reduced progesterone catabolism.

Created: 2026-05-31 · Last updated: 2026-05-31

Auto-compiled by the Layer 1 surveillance loop; not yet human-reviewed. anthropic/claude-opus-4.8 · 2026-05-31

Evidence over time

Evidence (1)

• DOI:10.3390/ijms21176264 — supporting · case report · 2020
  The article reports a hereditary (autosomal dominant) gene variant segregating with lipedema and links a hormonal mechanism (progesterone metabolism via 20α-HSD) to disease onset at puberty, directly supporting both heredity and hormonal in

Context (PECO)

Answers these questions

• Do hormones and heredity influence the onset of lipedema? supporting

Gaps & caveats

Auto-ingested single source; not yet human-reviewed.

Change log

• 2026-05-31 — created · auto-ingested for SQ-LIP-000012

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