Overview
- Premature Ovarian Insufficiency (POI) also known as premature ovarian failure or premature menopause, is defined as cessation of menstruation before the expected age of menopause.It is a loss of ovarian function before the age of 40 and it is a major cause of female infertility. There is an array of etiologies, including genetic, autoimmune and iatrogenic causes. It is a highly heterogeneous condition presenting with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea and it can be associated with other congenital or acquired abnormalities. Since the age of menopause is an inheritable trait, POI has a strong genetic component worth investigating. POI is considered primary when the ovary fails to function normally and secondary if the hypothalamus and pituitary fail to provide appropriate gonadotropin stimulation. POI not only interferes with a woman’s reproductive potential, but it is also associated with an increased risk of osteoporosis, cardiovascular disease and earlier mortality.
- The Igenomix Premature Ovarian InsufficiencyPrecision Panel can be used to make a directed and accurate differential diagnosis of infertility ultimately leading to a better management of the patient and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
The Igenomix Premature Ovarian Insufficiency Precision Panel is indicated for those patients with clinical suspicion or diagnosis with or without the following manifestations:
- Signs of Turner syndrome: short stature, webbed neck, shieldlike chest etc
- Thyroid involvement: goiter, exophthalmos, bradycardia or tachycardia
- Adrenal insufficiency: orthostatic hypotension, hyperpigmentation, hypotension, decreased axillary and pubic hair
- Autoimmunity: vitiligo, nail dystrophy, mucocutaneous candidiasis, alopecia areata etc
- Hypoestrogenism: atrophic vaginitis, hot flashes, night sweats, vaginal dryness, irritability, decreased sexual desire
- Enlarged ovaries
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for an initial consultation, workup and assisted reproductive technologies (ART), replacement hormonal therapy (RHT), and prevention of complications associated with multiorgan involvement
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
References
Qin, Y., Jiao, X., Simpson, J. L., & Chen, Z. J. (2015). Genetics of primary ovarian insufficiency: new developments and opportunities. Human reproductionupdate, 21(6), 787–808. https://doi.org/10.1093/humupd/dmv036
Laven J. S. (2016). Primary Ovarian Insufficiency. Seminars in reproductive medicine, 34(4), 230–234. https://doi.org/10.1055/s-0036-1585402
Rossetti, R., Ferrari, I., Bonomi, M., &Persani, L. (2017). Genetics of primary ovarian insufficiency. Clinicalgenetics, 91(2), 183–198. https://doi.org/10.1111/cge.12921
Bilgin, E. M., &Kovanci, E. (2015). Genetics of premature ovarian failure. Currentopinion in obstetrics&gynecology, 27(3), 167–174. https://doi.org/10.1097/GCO.0000000000000177
Hewlett, M., &Mahalingaiah, S. (2015). Update on primary ovarian insufficiency. CurrentOpinion In Endocrinology, Diabetes And Obesity, 22(6), 483-489. doi: 10.1097/med.0000000000000206
Anasti, J. (1998). Premature ovarian failure: an update. Fertility And Sterility, 70(1), 1-15. doi: 10.1016/s0015-0282(98)00099-5
Vujovic, S., Ivovic, M., Tancic-Gajic, M., Marina, L., Barac, M., &Arizanovic, Z. et al. (2012). Premature ovarian failure. SrpskiArhiv Za CelokupnoLekarstvo, 140(11-12), 806-811. doi: 10.2298/sarh1212806v
Shelling A. N. (2010). Premature ovarian failure. Reproduction (Cambridge, England), 140(5), 633–641. https://doi.org/10.1530/REP-09-0567
Touraine P. (2020). Premature ovarian insufficiency: step-by-step genetics bring new insights. Fertility and sterility, 113(4), 767–768. https://doi.org/10.1016/j.fertnstert.2019.12.032
