Fertility potential in 5α-reductase type 2 deficient males

  • Mariam Markouli
    Correspondence to: 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, 80 Vas Sofias Avenue, Athens, Greece, Tel.: +30213216375
    1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, 80 Vas Sofias Avenue, Athens, Greece
    Search for articles by this author
  • Lina Michala
    1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, 80 Vas Sofias Avenue, Athens, Greece
    Search for articles by this author
Published:September 08, 2022DOI:



      Males with 5α-reductase deficiency experience oligospermia or azoospermia, resulting in fertility problems.


      The aim of the present systemic review was to assess the fertility status of males with 5α-reductase type 2 deficiency and explore how reproduction can be achieved in these patients.

      Study design

      An extensive search of two databases (Pubmed and SCOPUS) was performed. Studies with original clinical data in patients with 5α-reductase deficiency evaluating the impact of the disease on semen quality and quantity and pregnancy outcomes through assisted or natural conception methods were eligible to be included in this systematic review.


      A total of nine cases were identified based on the eligibility criteria, all of which included reports of successful reproduction in males with 5α-reductase type 2 deficiency.


      In five individuals, assisted reproduction technology was used to achieve conception, highlighting its importance in solving the fertility problems that males with 5α-reductase deficiency are facing. Potential future fertility is a further indication for assigning the male gender in diagnosed newborns.


      In order to achieve this, the development of a management plan starting at birth is crucial for these patients, so that spermatogenesis and potential fertility can be preserved. In adulthood, semen analysis and mutation screening may also help in guiding these patients to select the correct fertilization method for their individual genetic and phenotypic characteristics.


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      Linked Article

      • Commentary to: Fertility potential in 5α-reductase type 2 deficient males
        Journal of Pediatric Urology
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          Markouli et al. report the results of a systematic review of the literature where they identified 9 individuals with a detected mutation in the 5α-reductase type 2 enzyme gene that subsequently were able to conceive in their adult life [1]. This manuscript highlights the importance of early genotyping to confirm diagnosis. Diagnostic workup of patients with differences in sexual development is guided based on phenotype assessment and the tendency is to genotype (gene panel, exome, genome and more recently long-read sequencing) cases with what the clinician interprets as “severe/classic phenotype” or those with possible syndromic features [2].
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