Fertility in disorders of sex development: a review

• Published in: Journal of pediatric urology 2016-12, Vol.12 (6), p.418-425
• Main Authors: Van Batavia, J.P, Kolon, T.F
• Format: Article
• Language: English
• Subjects: Assisted reproduction techniques; Disorders of sex development; Disorders of Sex Development - complications; Female; Fertility; Genitalia; Humans; Infertility; Infertility - etiology; Male; Pediatrics; Urology
• ISSN: 1477-5131; 1873-4898
• DOI: 10.1016/j.jpurol.2016.09.015

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 potential, to various degrees. This review discusses fertility issues, including gonadal preservation and reproductive outcomes, based on specific DSD conditions. Methods and Materials A systematic literature review was performed on Embase™, PubMed®, and Google Scholar™ for disorders of sex development and infertility. Original research articles and relevant reviews were examined, and a synopsis of these data was generated for a comprehensive review of fertility potential in DSD. Results While patients with some DSD 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 proportional to the severity of the disease. Due to high systemic levels of androgens, men with classic CAH have reduced fertility due to the presence of testicular adrenal rest tumors and suppression of the hypothalamic-pituitary-gonadal axis. 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 patients (either XX or XY) with CAH, especially non-classic forms. Advancements in assisted reproduction techniques have in rare cases produced offspring in some diagnoses thought to be universally infertile. Discussion of fertility issues with the patient and family is essential for the optimal treatment of each patient, and an important part of the multi-disciplinary approach in evaluating and counseling these families.