A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.

BNT162b2 Covid-19 vaccine does not affect fertility as explored in a pilot study of women undergoing IVF treatment.

BACKGROUND: The COVID-19 pandemic spreads worldwide, causing devastating consequences. BioNTech and Pfizer's BNT162b2 vaccine was one of the first vaccines to receive emergency-use authorization. However, its impact on women's fertility has not been primarily assessed leading to spread of unfounded rumors, causing vaccine hesitancy. We investigate the possible impact of BNT162b2 COVID-19 vaccine on in vitro fertilization (IVF) outcomes. METHODS: We compared data from 42 women undergoing their first IVF following 2 doses of BNT162b2 vaccination to 42 unvaccinated women undergoing their first IVF. The first outcome consisted of the pregnancy based on first hCG value; secondary outcomes were IVF cycle outcomes. A second analysis was done on 29 paired patients from both groups based on age, FSH, and the indication for IVF. RESULTS: We report different levels of the pregnancy formation; oocyte's development: numbers of oocytes retrieved (9.3±6.8 vs. 11.5 ± 7.9, p=0.19) and matured (6.9±4.8 vs. 9.1 ± 6.6, p=0.14), and embryonal stage: fertilization rates (64.1±26.6 vs. 66.3±23.3, p=0.14), the quantity (4.3 ± 3.2 vs. 5.7±4.4, p=0.23) and qualities of embryos (good/fair/poor) at day 3 were comparable. The analysis showed no significant difference between the groups, and the odds for pregnancy were similar (OR=0.9, 95% CL[0.3-2.8] p.value 0.833). CONCLUSIONS: From our results, this vaccine does not affect IVF performance and outcomes from the early stage of oocyte development through to the early beginning of pregnancy; therefore, it seems that the BNT162b2 vaccine does not compromise women's fertility.