What was shown
A practical case for genetic testing in stimulation planning. Polymorphisms of FSHR, LHCGR and ESR receptors, hypothalamic-pituitary-ovarian axis dysfunction patterns, and what genotype variants predict about response to a given gonadotrophin protocol.
Key findings
Specific receptor polymorphism profiles correlate with poor response to FSH alone and require LH supplementation to achieve normal follicular maturation. Routine LHCGR/FSHR genotyping in patients with prior protocol failure pinpoints carriers who will benefit from rLH or HCG-based luteinisation. The hypothalamic-pituitary-ovarian axis breaks at multiple points — receptor, signalling, downstream cellular response — and genetic testing helps locate which.
What this means in practice
Reserve LHCGR/FSHR genotyping for patients with an unexpected poor response, recurrent failure to mature oocytes, or otherwise unexplained stimulation outcome. Use the result to choose between FSH-only, FSH+rLH, FSH+HMG, and adjust trigger choice accordingly.
Caveats
Genotyping is not a screening test for first-cycle patients — yield is in those with a prior protocol failure. The clinical effect size of any single polymorphism is modest; treat the genotype as one input alongside age, AMH and biochemical LH/FSH.
The speaker stresses that genetic testing is not a universal screen: its yield is maximal in patients with an already-experienced protocol failure, not at first presentation, where age, AMH and basal hormones decide.
The upshot: genetics in stimulation is a targeted second-step tool that turns an "inexplicably low response" into a concrete decision (FSH-mono, FSH+rLH, FSH+hMG and trigger adjustment), not abstract science.
Polymorphisms of the FSHR gene (notably the Ser680Asn variant) alter receptor sensitivity to FSH: carriers of the 'resistant' genotype require higher starting doses, whereas 'sensitive' carriers risk hyper-response. Accounting for the FSHR genotype helps calibrate the dose in advance rather than by trial and error.
LHCGR polymorphisms affect the response to LH and hCG and may explain a 'failed trigger' — when, despite a formally adequate follicle pool, oocyte maturation does not occur. Estrogen receptor variants (ESR1/ESR2) additionally modulate feedback at the level of the hypothalamic-pituitary-ovarian axis.
The analysis of a failed trigger is built as a diagnostic algorithm: checking timing and dose, excluding pharmacokinetic causes, assessing the genetic background of the receptors. The lecture concludes with a shift from averaged protocols to genotype-personalized stimulation, where the choice of drug and dose rests on the patient's individual receptor profile.
Why does one patient respond to FSH alone while another stalls without LH? Polymorphisms of FSHR, LHCGR and ESR — what genetic markers explain stimulation failures, and where genotyping starts paying off in routine practice.
Patients arrive at the clinic already having consulted ChatGPT, and regulators are reviewing the first AI ‘doctors’. What in artificial intelligence already works in reproductive medicine — from assistant avatars to embryo assessment and stimulation personalisation? A live discussion on three levels — strategy, service and clinic — with practical cases and a panel Q&A.
A Sona-Pharm grant award for specialists in infertility treatment. Applications open on 1 February 2027. Ceremony — July 2027, Stockholm, during the ESHRE meeting.
Targeted, biomarker-guided immunotropic therapy in reproductive medicine. A lecture by Kseniia Khazhylenko at the UARM Symposium 2026.
Audio: UASubtitles: UA32 min
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