Fertility in disorders of sex development: A review

J Pediatr Urol. 2016 Dec;12(6):418-425. doi: 10.1016/j.jpurol.2016.09.015. Epub 2016 Nov 3.


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: Assisted reproduction techniques; Disorders of sex development; Fertility; Genitalia; Infertility.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Disorders of Sex Development / complications*
  • Female
  • Humans
  • Infertility / etiology*
  • Male