What question did this study set out to answer?

To evaluate reproductive outcomes of IVF with TESE in a male with cystic fibrosis and congenital absence of the vas deferens before and after CFTR modulator therapy.

July 27, 2026North American Proceedings in Gynecology and Obstetrics - Supplemental0 citationsOpen Access

In Vitro Fertilization With Testicular Sperm Extraction in a Male With Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens Before and After Elexacaftor/Tezacaftor/Ivacaftor

SKSean KellyRush University Medical Center MSMegan SaxFertility Centers of Illinois

Key Points

To evaluate reproductive outcomes of IVF with TESE in a male with cystic fibrosis and congenital absence of the vas deferens before and after CFTR modulator therapy.
Retrospective case analysis of a 39-year-old male with CF and CBAVD and his 36-year-old partner.
Comparison of IVF/TESE cycles prior to and following initiation of elexacaftor/tezacaftor/ivacaftor.
Assessment of androgenization, semen analysis, oocyte retrieval, and PGT results.
IVF/TESE#1: 22 oocytes retrieved, 7 blastocysts vitrified, yielding 1 euploid and 1 mosaic embryo.
IVF/TESE#2: 16 oocytes retrieved, 2 euploid embryos biopsied for PGT.
Following ETI initiation, persistent azoospermia was noted with low ejaculate volume and limited ART outcomes.

Abstract

Objective: To report a case of in vitro fertilization (IVF) with testicular sperm extraction (TESE) in a male with cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD) before and after initiation of elexacaftor/tezacaftor/ivacaftor (ETI; Trikafta), examining the impact of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy on reproductive outcomes. Design: Retrospective case report. Materials and Methods: A 39-year-old male with CF and CBAVD and his 36-year-old female partner with recurrent pregnancy loss were evaluated. IVF/TESE cycles performed prior to ETI initiation were compared to a subsequent cycle after ETI initiation. Outcomes assessed included androgenization, semen analysis, oocyte retrieval, fertilization, blastulation, and preimplantation genetic testing (PGT) results. Descriptive comparison was performed given the case report design. Results: IVF/TESE#1 (pre-ETI, female partner age 31): 22 oocytes retrieved, 7 blastocysts vitrified, 6 tested by PGT, yielding 1 euploid and 1 mosaic embryo. IVF/TESE#2 (pre-ETI, female partner age 35): 16 oocytes retrieved, 2 blastocysts biopsied for PGT, yielding 2 euploid embryos. Following ETI initiation, persistent azoospermia was noted on semen analysis (ejaculate volume of 0.1 mL) with appropriate androgenization (serum testosterone 436 ng/dL). IVF/TESE#3 (post-ETI, female partner age 36): 2 embryos biopsied for PGT (oocyte retrieval data pending). Conclusions: While ETI confers substantial systemic benefits in males with CF, this case demonstrates no clear improvement in assisted reproductive technology (ART) outcomes following initiation of CFTR modulator therapy, evidenced by persistent azoospermia and continued poor blastulation. Notably, the female partner’s advancing age (31 to 36 years) across cycles may independently affect oocyte quality and embryo outcomes, which should be considered when interpreting differences between pre- and post-ETI cycles. As more individuals with CF pursue parenthood, prospective studies are needed to define the reproductive implications of CFTR modulators in males.

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