Summary
Introduction
Disorders of sex development (DSD) are a heterogeneous group of complex conditions
that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts
on internal and external genitalia,these conditions can affect fertility potentialto
various degrees. In this review we discuss fertility issues including gonadalpreservation
and reproductive outcomes based on specific DSD conditions.
Methods and Materials
A systematic literature review was performed on Embase™, PubMed®, and Google Scholar™ for disordersof sex development and infertility. Original research articles and relevant
reviews were examinedand a synopsis of these data was generated for a comprehensive
review of fertility potential in disorders of sex development.
Results
While patients with some DSDs may have functioning gonads with viable germ cells but
an inability to achieve natural fertility secondary to incongruent internal or external
genitalia, other patients may have phenotypically normal genitalia but infertility
due to abnormal gonad development. Fertility rates in females with congenital adrenal
hyperplasia (CAH) depend on phenotype and are inversely proportionalto the severity
of the disease. Men with classic CAH have reduced fertility and due to the presence
of testicular adrenal rest tumors and to suppression of the hypothalamic-pituitary-gonadal
axis by high systemic levels of androgens. Infertility is seen in complete androgen
insensitivity and subfertility is common in partial cases. Fertility is rare in pure
or mixed gonadal dysgenesis, ovotesticular disorder, Klinefelter syndrome, and XX
males.
Conclusion
Fertility potential appears to be the highest in patientswith XX or XY CAH, especially
non-classic forms. Advancements in assisted reproduction techniques has in rare cases
produced offspring in some diagnoses thought to be universally infertile. Discussion
of fertility issues with the patient and family is essential to the optimal treatment
of each patient and an important part of the multi-disciplinary approach to evaluating
and counseling these families.
Keywords
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Article info
Publication history
Published online: November 03, 2016
Accepted:
September 24,
2016
Received:
May 24,
2016
Identification
Copyright
© 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
