Summary
Background
Males with 5α-reductase deficiency experience oligospermia or azoospermia, resulting
in fertility problems.
Objective
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.
Results
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.
Discussion
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.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: September 08, 2022
Accepted:
September 3,
2022
Received in revised form:
August 22,
2022
Received:
May 7,
2022
Identification
Copyright
© 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
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- Commentary to: Fertility potential in 5α-reductase type 2 deficient malesJournal of Pediatric UrologyVol. 19Issue 1
- PreviewMarkouli 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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