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Differences of Sex Development

Differences (formerly "disorders") of sex development (DSD) are congenital conditions in which chromosomal sex, gonadal differentiation, or genital anatomy develops atypically.[2] Many patients are identified in infancy, but a substantial proportion first present in adolescence, with delayed puberty, primary amenorrhea, virilization, or questions about gender identity and fertility, precisely as care must move from pediatric to adult services.[4] DSD transitional care is now counted among urology's highest-priority research topics, even as its evidence base remains thin.[1]

For the general transition framework (readiness tools, hand-off, barriers) see Transitional Urology; for reoperative hypospadias technique see Hypospadias & Epispadias; for the lower-urinary-tract management ladder see Neurogenic Bladder. DSD is distinct from gender-affirming care, though there is conceptual overlap with GAS.

Classification (Orientation)​

The 2006 Chicago Consensus introduced the "DSD" umbrella term, as a medical classification; patient preferences for condition-specific or intersex terminology vary. It organized the field by karyotype:[2][3]

  • 46,XX DSD, e.g., congenital adrenal hyperplasia (CAH), ovotesticular DSD
  • 46,XY DSD, e.g., androgen insensitivity syndrome (AIS), 5α-reductase deficiency, gonadal dysgenesis, persistent Müllerian duct syndrome (PMDS). PMDS is usually discovered incidentally at inguinal hernia repair or orchiopexy in an otherwise normally virilized male, when a uterus and fallopian tubes are found to have persisted because of failed anti-Müllerian hormone signaling; adult management centers on completing orchiopexy and preserving the vas deferens and gonadal vessels; when reoperative surgery is needed, Müllerian remnants can be divided or retained if excision threatens those structures. Remnant malignancy and hematuria have been reported, so safe excision or long-term monitoring of retained remnants should be discussed.[35][42][43] A review incorporating 157 personal cases and published reports described testicular malignant degeneration in 33% of adults with PMDS, often in the setting of cryptorchidism.[35]
  • Sex-chromosome DSD, e.g., Turner (45,X), Klinefelter (47,XXY), mixed gonadal dysgenesis (45,X/46,XY). Klinefelter syndrome is often diagnosed only in adulthood, when small testes or hypogonadism are evaluated. The European Academy of Andrology strongly recommends testosterone for adults with Klinefelter syndrome and diagnosed hypogonadism, after fertility issues are addressed if possible (moderate-quality evidence).[34] Its low-normal testosterone plus supranormal LH criterion applies to adolescents with delayed puberty or hypogonadal symptoms. It highlights an increased adult burden of cardiovascular and metabolic disease (venous thromboembolism, peripheral vascular disease, diastolic dysfunction, dyslipidemia, diabetes) and certain malignancies (extragonadal mediastinal germ cell tumors, breast cancer, non-Hodgkin lymphoma), which shape lifelong surveillance separately from the gonadal-tumor surveillance discussed below for other DSD conditions.[34]

Pediatric DSD care is well-organized around multidisciplinary teams (endocrinology, urology/surgery, genetics, psychology); adult services are far less developed, so DSD patients are at high risk of loss to follow-up, compromising gonadal surveillance, hormonal management, and psychosocial well-being.[4][5][6][7] The urologist's adult role concentrates in a few DSD-specific domains below.

Gonadal Tumor Surveillance and Gonadectomy Timing​

Several conditions, particularly those with Y-chromosome material and dysgenetic gonads, carry an elevated risk of gonadal germ-cell tumors (gonadoblastoma, dysgerminoma/seminoma), while risk is low in others (e.g., complete AIS in situ before adulthood).[8][9][10]

  • The choice between prophylactic gonadectomy and gonadal retention with surveillance is risk-stratified by diagnosis, gonadal location, and histology, and, where risk permits, is increasingly deferred so the patient can participate in shared decision-making.[8][9]
  • Retained gonads require an individualized specialist plan. Self-examination and imaging may help assess accessible gonads, but neither imaging nor conventional tumor markers reliably excludes precursor lesions or establishes safe surveillance. High-risk dysgenetic gonads with Y material warrant explicit discussion of gonadectomy; retention is not made risk-free by normal tests.[8][9][10]
  • Mixed gonadal dysgenesis (45,X/46,XY) is the prototype of the surveillance-versus-removal dilemma and benefits from explicit, individualized counseling.[10]
  • Turner syndrome with occult Y-chromosome material. A minority of patients with Turner syndrome carry a small 46,XY mosaic cell line that a standard karyotype can miss; For a 45,X karyotype with signs of virilization, the 2024 Turner guideline strongly recommends PCR or another molecular assay for Y-chromosome material (low-quality evidence).[32] Bilateral gonadectomy at diagnosis was the historical default once Y material was confirmed, but the 2024 international Turner syndrome clinical practice guideline moved toward individualized, shared decision-making about gonadectomy versus surveillance rather than routine removal.[32] A multicenter cohort of 44 girls with Turner syndrome and Y-chromosome material found spontaneous thelarche in 8/19 (42%) who were at least 13 years old and spontaneous menarche in 2/19 (11%) who were at least 15 years old. Gonadoblastoma was found in 7/35 patients with available gonadectomy pathology; these findings support the possibility of gonadal function while tumor risk remains part of shared decision-making.[33]
  • The EAU 2026 paediatric guideline reports neoplastic lesions in 12% of participants in the DSD-LIFE study, and 36% in 46,XY gonadal dysgenesis. Its adapted risk table (after Looijenga) places gonadal dysgenesis with Y material and an abdominal gonad, PAIS with a nonscrotal gonad, Frasier syndrome and Denys-Drash syndrome with Y in the high-risk group (15% to 60%), against about 2% for complete AIS, 3% for ovotesticular DSD and 0% for 5α-reductase deficiency. It notes that malignancy in complete AIS appeared only after the second decade, which allows gonadectomy to be deferred until after puberty. Intra-abdominal gonads should be brought down or fixed to the abdominal wall so they can be monitored, and high-risk gonads that cannot be brought down, or streak gonads, should be removed after interdisciplinary risk-benefit review. It recommends specialized immunohistochemistry (PLAP, OCT3/4) on biopsies and states that serum miRNA markers are not yet in clinical use. It gives a strong recommendation to tell patients and caregivers that a Y chromosome in dysgenetic gonads increases malignancy risk.[31]

Timing of Genital Surgery​

The timing of DSD genital surgery is among the most debated questions in the field. Shared decisions about genital-surgery timing compare early surgery and deferral: a 2026 Japanese guideline finds evidence insufficient to favor either and gives a weak, expert-opinion recommendation for this discussion with an expert team.[2][44] At transition, adolescents may make autonomous decisions about genitoplasty, gonadectomy, or fertility preservation for the first time.[4] The EAU 2026 paediatric guideline states that surgery that alters appearance is not urgent and that the evidence on outcomes is sparse, with no randomized trials. It gives a strong recommendation for a multidisciplinary shared-decision model covering gender assignment, genital surgery (in accordance with national regulations) and gonadectomy, and records that the European Society for Paediatric Urology disagreed with a Council of Europe proposal to restrict surgery to emergencies.[31] Older published positions favored early infant or childhood surgery based on parental concern, presumed lack of later memory, and easier tissue handling; they lacked comparative timing outcomes and do not describe current practice.[41]

A systematic review and meta-analysis of 29 observational studies (1,178 females with CAH who underwent genital reconstruction; mean age at surgery 2.7 years, mean follow-up 10.3 years) gives outcome context for counseling, though it did not compare early with later surgery: 88.7% of patients identified as female, mean Female Sexual Function Index score was 25.13/36, 48% reported comfortable intercourse, and vaginal stenosis was reported in 27%. Outcomes were not reported by every included study, and the review's authors rated the overall certainty of evidence as very low.[36]

Revision After Feminizing Genitoplasty​

Vaginal stenosis is a recognized indication for revision in adults who underwent childhood feminizing genitoplasty (most often for a urogenital sinus, as in CAH). In a single-center series, 13 patients presenting with vaginal stenosis (median age 19) had prior vaginoplasty at a median age of 15 months (range birth–233 months) and presented with inability to have intercourse from stenotic tissue.[11] Which primary repair a given adult patient had depends less on the length of the common urogenital-sinus channel than on where it joins relative to the bladder neck: a low or mid-level confluence is typically managed with a posterior sinus or vaginal opening and a perineal flap, while a high confluence requires separating the vagina from the urinary tract with a pull-through and reconstructing the sinus itself as urethra.[41] Approach by severity:[11][12]

  • Distal stenosis. Partial urogenital mobilization with perineal or lateral flaps was the commonest approach in the small series (10/13 patients).[11] The whole cohort had physiological vaginal length and width in 12/13 at median follow-up of 11 months, which is not a generalizable long-term success rate.[11]
  • Complete cicatrization / high stenosis. Bowel vaginoplasty is reserved for these severe cases. Buccal-mucosa vulvovaginoplasty or neovaginal construction has also been reported as a substitution option when scarring leaves insufficient local tissue, with reports of short-term success; denominators and follow-up are not well established for this option.[40]
  • High vaginal-urogenital-sinus confluence (more than 3 cm from the perineum). Pull-through vaginoplasty has been described, distinguishing total urogenital mobilization (TUM), which frees the sinus circumferentially and anteriorly off the pubourethral ligament, from a partial mobilization that preserves that most anterior fixation to avoid a possible continence cost from dissecting the future urethra off the ligament. In an 11-patient cloacal-repair series, Peña reported approximately 70% shorter reconstruction time with TUM; the series did not directly compare the two approaches or establish a continence advantage.[39] A posterior sagittal approach and the anterior sagittal trans-ano-rectal approach (ASTRA) have both been described as exposures for complex primary or revision high-urogenital-sinus repair; preliminary ASTRA reports describe no fistula, continence problems, or stricture, but without a stated denominator and with the authors cautioning that longer follow-up is needed to assess stenosis.[40]
  • Primary vaginoplasty deferred beyond infancy. In a retrospective series of nine patients aged 10.3–29.25 years (median 16.75), four underwent urogenital mobilization with a perineal flap, four modified McIndoe vaginoplasty, and one laparoscopic pull-through. Eight of nine had physiological vaginal length and width at median 45-month follow-up.[12]

The Endocrine Society CAH guideline notes that urinary incontinence is rare long-term, a minority need additional vaginal surgery after puberty, and premenarchal dilation should be avoided; persistent complications include introital scarring, urethrovaginal fistula, and clitoral pain or loss of sensation.[13] Dissatisfaction with surgical function and clitoral arousal is high (about 47% each) in partially androgenized 46,XY women after feminizing surgery.[14]

Masculinizing Genitoplasty and Hypospadias Sequelae​

Adults raised male after masculinizing DSD surgery (or PAIS, proximal hypospadias) present with the familiar reconstructive sequelae: urethral stricture, fistula, hair-bearing or persistent hypospadias, and chordee. The reoperative technique (staged buccal-mucosa urethroplasty, outcomes, predictors) is covered on the Hypospadias & Epispadias page and the urethroplasty atlas and is not reproduced here. The DSD-specific point is the patient-reported burden after hypospadias surgery: physicians rated anatomical appearance as poor in 7/62 (11.3%) participants with an appearance assessment, and 21/56 (37.5%) respondents were dissatisfied or very dissatisfied with postoperative genital appearance; appearance and function should be reassessed at transition.[15] Reoperation risk is a related concern. A single-center review of proximal hypospadias repair found unplanned reoperation in 24/30 patients (80%) with an associated DSD diagnosis versus 17/37 (45.9%) without one (p = 0.024) at a median 28.3-month follow-up; the difference was evident by 24 months, and older age at initial repair and a staged repair were independently associated with reoperation in the first two years.[37] A separate NIH-sponsored multicenter prospective cohort enrolled 31 young children with DSD-associated moderate-to-severe genital atypia; 30 underwent hypospadias repair and one had no genitoplasty. Complications, mainly glans dehiscence and urethrocutaneous fistula, occurred in 12/30 children who underwent hypospadias repair (40%) at 12 months.[38] These studies differ in design and population; neither should be read as proof that a DSD diagnosis is an independent risk modifier distinct from the anatomic severity that often accompanies it.[37][38]

Testicular Adrenal Rest Tumors (TART) in CAH​

TART is the defining benign testicular pathology in adult males with classic CAH, with prevalence of 30–50%, and is benign, but can compress seminiferous tubules and causes pain, hypogonadism, and infertility.[16][18]

  • Screening. The 2018 Endocrine Society guideline strongly recommends periodic testicular ultrasound for males with classic CAH, beginning in adolescence (low-quality evidence); expert opinion suggests every 1–2 years in asymptomatic males.[13] A transition review describes annual ultrasound from the beginning of puberty.[13][17]
  • Medical management. Intensifying or optimizing glucocorticoid therapy to suppress ACTH may shrink TART and improve spermatogenesis; long-standing fibrotic lesions become unresponsive.[16][18]
  • Surgery is generally avoided. In eight adults with classic CAH and bilateral TART, testis-sparing surgery did not improve gonadal function; it may be considered for pain but can cause scarring and irreversible testicular damage.[16][18]
  • Crinecerfont (CRF1 antagonist, FDA-approved December 2024) is adjunctive to glucocorticoid replacement for androgen control in classic CAH.[30] The adult phase III trial demonstrated glucocorticoid dose reduction while maintaining androgen control. Replacement and stress-dose glucocorticoids remain necessary to prevent adrenal crisis.[19][30]
  • Fertility. Offer semen analysis and cryopreservation early, before TART-related tubular damage becomes irreversible.[18]

Androgen Insensitivity Syndrome — Adult Benign Issues​

For adults with complete AIS (CAIS):[20][21]

  • Vaginal hypoplasia. Vaginal dilation is first-line to achieve functional depth and avoid dyspareunia; surgical vaginoplasty is reserved for dilation failure.
  • Bone health. Bone mineral density is reduced (androgens contribute directly, independent of estrogen); assess sex-steroid exposure and fracture risks, obtain DXA when indicated, and individualize repeat testing. Ensure exercise and adequate calcium/vitamin D; low density in a young adult does not automatically justify bisphosphonate treatment.
  • Hormone replacement after gonadectomy. Continuous unopposed estrogen is used (no uterus). Alternative hormone strategies for persistent symptoms require specialist discussion, and testosterone is not an automatic add-on.

In partial AIS raised male, ongoing issues include hypospadias-complication management (cross-linked above), gynecomastia, and hypogonadism monitoring.[20][22]

Lower Urinary Tract, Sexual, and Fertility Health​

  • Lower urinary tract. In one retrospective genitoplasty series of 262 patients with DSD, 39/99 in the male-assigned subgroup reported poor flow and postvoid dribbling, and 28/99 underwent urethral dilation for stricture.[23] Bladder behavior can change at puberty. Investigate the actual anatomical and functional cause; DSD or prior surgery alone is not a neurogenic diagnosis. Safe storage and emptying principles may overlap with NLUTD management; see Neurogenic Bladder.[23][24][25]
  • Sexual health. In dsd-LIFE (1,040 participants; 1,022 in the six analyzed groups), 61/196 men in the Klinefelter group (31.1%) and 48/82 men in the XY-DSD group (58.5%) reported no partner sexual activity in the previous 12 months; sex-life dissatisfaction ranged from 66/304 (21.7%) in the Turner group to 45/102 (44.1%) in the nonandrogenized female XY-DSD/gonadal-dysgenesis group.[26] The often-quoted dyspareunia estimates of about 56% in partially androgenized 46,XY women and 70% in CAIS come from small subgroups of a separate German study of 57 people, not the entire DSD-LIFE cohort.[14] Sexuality should be explicitly addressed, with referral to pelvic-floor physiotherapy, sexual-health counseling, and psychology.[14][26]
  • Fertility. Address in adolescence with reproductive-medicine collaboration; potential varies widely by diagnosis (often preserved in CAH and 46,XX, limited in gonadal dysgenesis).[4][18]

Transition and Models of Care​

The general transition machinery, namely readiness assessment, joint pediatric-adult clinics, transition coordinators, and the barriers (scarce adult DSD expertise, geographic and financial disparity), is shared across congenital urology and is detailed on the Transitional Urology hub.[27][28] DSD adds two emphases: psychology as a continuous cornerstone (disclosure, body image, gender identity, relationships) and the value of standardized longitudinal DSD registries for an evidence base that remains thin.[6][29]

Key Principles​

  • Gonadectomy versus surveillance is risk-stratified. The decision depends on karyotype, gonadal location, and histology. Shared decision-making is deferred to where risk permits, and the limitations of surveillance for retained gonads are explained.[8][9]
  • Genital-surgery timing is individualized. The EAU strongly recommends multidisciplinary shared decisions about genital surgery; discussions include patient participation as maturity permits, and appearance-altering surgery is nonurgent.[2][4][31]
  • Vaginal stenosis is a principal reason for feminizing-genitoplasty revision. Urogenital mobilization with flaps is used for distal disease and bowel vaginoplasty for complete cicatrization or high stenosis; premenarchal dilation is avoided.[11][13]
  • TART affects 30–50% of classic-CAH men. Screen with ultrasound, treat medically, bank sperm early, avoid surgery.[16][18]
  • CAIS adults need vaginal dilation, bone-density surveillance, and estrogen replacement after gonadectomy.[20][21]
  • Related topics have dedicated pages. Reconstruction after prior hypospadias surgery, the NLUTD ladder, and the transition process are covered there.[15][25][27]

See Also​

References​

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44. Ishii T, Kashimada K, Kawai M, et al. "Clinical practice guidelines for the management of differences of sex development in Japan." Endocr J. 2026;73(2):291-340. doi:10.1507/endocrj.EJ25-0392