Reproductive functions and fertility preservation in men with sickle cell disease.

Background: Sickle cell disease (SCD) is a prevalent hereditary disorder with significant morbidity, including potential impacts on male fertility. This study aims to evaluate the semen parameters in men with SCD and assess the outcomes of fertility preservation strategies.

Methods: This retrospective study included 121 men with SCD referred to the fertility Centre at Tenon University Hospital, Paris, between 2012 and 2023. Patients were categorized into three groups based on hydroxyurea (HU) exposure: without HU (WHU), ongoing HU(OHU), and previous HU (PHU). Clinical and semen parameters data were collected and compared with those of 107 healthy sperm donors. Semen parameters were analyzed according to World Health Organization guidelines, and sperm freezing protocols were standardized. Statistical analysis was performed to compare semen parameters between groups.

Results: Of the 121 patients, 117 successfully collected semen. All semen parameters, including volume, concentration, total count, motility, vitality, and morphology, were significantly reduced in SCD patients without HU exposure compared to donors. Nine had azoospermia and 45 had oligozoospermia, compared to 11 sperm donors with oligozoospermia (p < 0.05). The impact of HU on semen parameters could not be demonstrated due to the small-sample size. Fertility preservation outcomes showed a mean of 1.96 collections per patient, yielding a mean of 8.7 straws, with a majority requiring in vitro fertilization with intracytoplasmic sperm injection (ICSI) for future use. Seven patients used their cryopreserved sperm, resulting in two successful births.

Conclusions: This study, the largest of its kind, confirms significant alterations in semen parameters in men with SCD. Due to deleterious effects of treatments on male reproductive functions, fertility preservation remains crucial for these patients. Further research is needed to refine fertility preservation strategies and address the long-term reproductive health of men with SCD.