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Review
. 2025 Oct:37:151537.
doi: 10.1016/j.sempedsurg.2025.151537. Epub 2025 Sep 8.

Differences in sex development: Taking inventory of function and anatomy to empower self care

Kathleen Heller  1 , Stephanie Brierley  1 , Natalya Foreman  2 , Erica M Weidler  1 , Kathleen van Leeuwen  3
Affiliations
Review

Differences in sex development: Taking inventory of function and anatomy to empower self care

Kathleen Heller et al. Semin Pediatr Surg. 2025 Oct.

Abstract

The umbrella term disorders of sexual development (DSD) encompasses a broad spectrum of congenital conditions with atypical chromosomal, gonadal or anatomic sex development1,2. These conditions include mosaic chromosomal disorders, gonadal disorders of development, disorders of androgen synthesis, action or excess, and anatomical disorders, such as cloacal anomalies or mullerian structural errors1. The incidence of DSD is estimated to be around 1% of all live births2. DSD patients can also be considered to have congenital conditions affecting reproductive development (CCARD) and an important element of their care as the age is taking regular inventory of their anatomy so decisions regarding medical, surgical and psychological options can be made. There are many specialties that are asked to help these families, including pediatricians, endocrinologists, urologists, pediatrics surgeons and, as they age, pediatric/adolescent gynecologists and adult gynecologists. Keeping the message consistent is difficult across such a wide spectrum of specialists. Tools that can offer a review of the function of the body and, in particular, the specific anatomy unique to these diagnoses, is essential. We present a review of common DSD or CCARD conditions and propose education delivered at typical milestones to help empower decision making.

Keywords: CCARD, DSD; Congenital conditions affecting reproductive development; Difference of sex development; Shared decision making.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

References

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