Female parental consanguinity is associated with a reduced ovarian reserve

Published:December 03, 2021DOI:


      Research question

      To investigate whether parental consanguinity is associated with a reduced ovarian reserve in women from the Arabian Peninsula, comparing anti-Müllerian hormone (AMH) and antral follicle count (AFC).


      Retrospective large-scale observational study including 2482 women from the Arabian Peninsula, aged 19-49 years, who had their serum AMH and AFC measured as part of their fertility assessment, from May 2015 to November 2019. Consanguinity was defined as women whose parents were first-degree or second-degree cousins. Serum AMH was measured by Elecsys (Cobas, Roche®) for all participants.


      2198 women were included: 605 in consanguine group (27.53%), 1593 (72.47%) in non-consanguine group. Both groups were similar in BMI, years of infertility and smoking status. Women from the consanguine group were significantly younger (mean age±SD:33.74±6.64) compared with non-consanguine group (mean age±SD:34.78±6.64, p<0.0001). Median AMH and AFC for the consanguine group were 1.90ng/mL (min-max:0.01-23.8) and 11(0-80), respectively, and for the non-consanguine group 1.84ng/mL (min-max:0.01-23) and 11(0-60), respectively. AMH and AFC exhibit an age-dependent decline. As both parameters are age-dependent, the multivariate analysis showed that women from the consanguine group presented significantly lower AMH (Coeff±SD=-0.07±0.03, p=0.036) and AFC (Coeff±SD=-0.16±0.06, p=0.003) compared with non-consanguine women, and the highest differences were found for women below 35 years of age (AMH median (min-max): 2.82ng/mL (0.01-23.80) vs 2.92ng/mL(0.01-23,00); p=0.035; AFC median (min-max): 15(0-80) vs 14(0-80); p=0.001).


      The adjusted analysis by age indicates that female parental consanguinity is associated with reduced ovarian reserve in the studied population. Clinical evaluation should include extensive family history and subsequent counselling of the affected couples.

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      Dr Laura Melado graduated as MD in 2002 (Universidad Autónoma in Madrid), where she completed her Doctoral dissertation on ¨AMH during controlled ovarian stimulation¨ with Cum Laude (2015). She worked as Ob/Gyn/IVF Specialist in Spain and, nowadays, she is the Medical Director at ART Fertility Clinics Abu Dhabi, UAE.
      Key Message
      Female parental consanguinity is associated with reduced ovarian reserve in women from the Arabian Peninsula. Genetic counselling, risk prediction, and earlier intervention should be considered for these women.