Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report

Signe Altmäe, Kadri Haller, Maire Peters, Merli Saare, Outi Hovatta, Anneli Stavreus‐Evers, Anneli Stavreus-Evers, Agne Velthut, Agne Velthut‐Meikas, Helle Karro, Andres Metspalu, Andres Salumets
Reproductive biomedicine online · 2009 · vol. 18(5) , pp. 651–657 · doi:10.1016/s1472-6483(10)60009-0 · PMID:19549443 · W1983266699
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-08 ⓘ

CYP19A1 Del allele and shorter (TTTA)n repeats correlate with smaller ovaries, fewer antral follicles, and increased susceptibility to unexplained infertility and endometriosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

This preliminary study examined whether CYP19A1 (aromatase) genetic variants—TCT trinucleotide insertion/deletion and (TTTA)n intronic microsatellite repeat length—predict ovarian stimulation outcomes and female infertility etiology in 152 normally ovulating IVF patients treated with a recombinant FSH plus GnRH antagonist protocol. The authors found that Del/Del homozygous patients with shorter TTTA repeats had decreased ovarian FSH sensitivity, and Del-allele variation correlated with smaller ovarian volume and fewer early antral follicles measured on days 3–5, alongside associations with unexplained infertility susceptibility and an endometriosis-related correlation. A key limitation stated by the authors is that the work is a preliminary report, and the sample size is modest for detecting genetic effects across infertility subgroups. Relevance to endometriosis: the paper reports that CYP19A1 Del variation (and associated shorter (TTTA)n alleles) was linked with increased genetic susceptibility to endometriosis, though the main focus is genetic predictors of ovarian stimulation outcome during IVF.

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Condition tags

infertility

MeSH descriptors

Aromatase Infertility, Female Ovulation Induction Polymorphism, Genetic Aromatase DNA Primers DNA Primers Estonia Female Humans INDEL Mutation INDEL Mutation Infertility, Female Linear Models Microsatellite Repeats Microsatellite Repeats Ovulation Induction Pregnancy Treatment Outcome

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