Table 1.
Participant demographics and stakeholder category
| Individuals with a DSD (n = 24) | Parents (n = 19) | Healthcare Providers (n = 37) | Allied Professionals (n = 30) | |
|---|---|---|---|---|
| Demographics | ||||
| Age (years): Mean (SD); range | 22.1 (7.1); 15–39 | 37.8 (6.9); 25–52 | 46.1 (9.4); 28–68 | 49.9 (12.2); 32–78 |
| Gender identity, n (%) | ||||
| Boy / Man | 1 (4.2) | 6 (31.6) | 7 (18.9) | 14 (46.7) |
| Girl / Woman | 22 (91.7) | 13 (68.4) | 29 (78.4) | 15 (50.0) |
| Other | 1 (4.2) | 0 | 1 (2.7) | 1 (3.3) |
| Race, n (%)a | ||||
| African American / Black | 3 (13.0) | 1 (5.3) | 1 (2.7) | 1 (3.7) |
| White | 16 (70.0) | 17 (89.5) | 30 (81.1) | 24 (88.9) |
| Other / more than one racec | 8 (17.4) | 2 (5.3) | 6 (16.2) | 3 (10.7) |
| Hispanic | 5 (20.8) | 3 (15.8) | 1 (2.7) | 0b |
| DSD diagnosis / category d,e | ||||
| 5α-reductase deficiency | 0 | 1 (5.3) | ||
| 17β-hydroxysteroid dehydrogenase deficiency | 0 | 1 (5.3) | ||
| 46,XY DSD (not otherwise specified) | 2 (8.3) | 0 | ||
| Ambiguous genitalia | 0 | 2 (10.5) | ||
| Androgen insensitivity | ||||
| Complete androgen insensitivity syndrome | 4 (16.7) | 0 | ||
| Partial androgen insensitivity syndrome | 2 (8.3) | 1 (5.3) | ||
| Cloaca / cloacal exstrophy | 3 (12.5) | 4 (21.1) | ||
| Complete gonadal dysgenesis | 2 (8.3) | 0 | ||
| 46,XX classic congenital adrenal hyperplasia | 7 (29.2) | 3 (15.8) | ||
| Hypospadias | 0 | 3 (15.8) | ||
| Mixed gonadal dysgenesis | 2 (8.3) | 0 | ||
| MRKH syndrome / Mullerian anomaly | 2 (8.3) | 1 (5.3) | ||
| Ovotesticular DSD | 0 | 2 (10.5) | ||
| Healthcare Provider Specialties | ||||
| Endocrinology | 6 (16.2) | |||
| Genetics, Genetic Counseling, Genomics | 6 (16.2) | |||
| Pediatric & Adolescent Gynecology | 4 (10.8) | |||
| Primary Care & Adolescent Medicine | 6 (16.2) | |||
| Psychology | 5 (13.5) | |||
| Pediatric Urology & General Surgery | 4 (10.8) | |||
| Other: Child Life, Neonatology, Nursing | 6 (16.2) | |||
| Allied Professions | ||||
| Chaplaincy / Pastoral Care | 7 (23.3) | |||
| Healthcare Administration | 4 (13.3) | |||
| Law | 2 (6.7) | |||
| Medical Ethics | 4 (13.3) | |||
| Research, Clinical | 5 (16.7) | |||
| Research, Social Science | 4 (13.3) | |||
| Support & Advocacy Organization Leadership | 4 (13.3) |
Note.
a
Percentages adjusted for missing data;
b
n=1 participant declined to answer and n=1 missing;
c
Other = Asian, Hawaii Native / Pacific Islander, or Other;
d
For those recruited through clinics, diagnoses were derived from chart review; for those recruited through support or advocacy organizations, diagnoses were self-reported (n = 8);
e
For parent participants, “diagnoses” reflect child’s DSD condition; SD = standard deviation; DSD = difference of sex development; MRKH = Mayer-Rokitansky-Küster-Hauser syndrome