Could elucidating the genetics of POI be just around the corner? Alix SENTERRE Uliege CHR of Huy 1 year intern ? Patients below the age of 40 Heat waves Dyspareunia Loss of sex drive Infertility Primary or secondary amenorrhea Mood swings
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Could elucidating the genetics of POI be just around the corner? Alix SENTERRE
Uliege – CHR of Huy 1 year intern<br>
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? Patients below the age of 40 Heat waves Dyspareunia
Loss of sex drive Infertility Primary or secondary amenorrhea Mood swings Puberty delay
Stop of growth Pregnancy Hypogonadotropic
hypogonadism Hypergonadotropic hypogonadism PCOS Anamnesis Which diagnosis ? Primary ovarian
insufficancy
(POI)<br>
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Definition from ESHRE Amenorrhea of at least 4 months
Elevated FSH levels: above 25 UI/L on two dosages 4 weeks apart Methods of investigation Hormonal dosage
FSH
Œstradiol
bHCG
AMH
Prolactine Pelvis US study Etiologies Chromosomal ? Autoimmune
? Chimio-/Radio-toxicity ? Surgical ? Genetic ? Hypergonadotropic
hypogonadism Follicular pool impairement during embryonic development,
Accelerated follicular atresia,
Blocage of follicule maturation<br>
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Why the interest in genetics regarding POI ? Understanding the genetics of POI Understanding of the pathogenic mechanisms Prevention ?
Screening ?
Cure ? Major clinical implications:
New opportunities of treatment
Optimization of patient care<br>
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Indeed: actuel treatment …. ONLY SYMPTOMATIC Treatment of the oestrogen deprivation CV imparement Impaired bone mineralisation Sexual functions Depression Infertility treatment HST HST HST HST Infertility Oocyte bank. Adoption. Cryopreservation impossible: too few follicules Today:
PREVENTION
CURE<br>
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Research method Prospective study, patients selected between 2014 et 2021
Initial cohort of 42 patients, other causes of POI excluded
Results 7 genes of interest 27 genes => 9 protein coding<br>
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Conclusion Cytogenomics and next generation sequencing are the most efficient methods to unveil genetics of POI. The genetic approach is essential to the understanding of the pathogenesis of heterogeneous disease such as POI Limitation: these study NEED replication, rendomization and case control population for reliable results.<br>
