Congenital adrenal hyperplasia patient perception of ‘disorders of sex development’ nomenclature

Participants

The survey was sent via email to 2032 eligible U.S. CAH families and 254 eligible
international CAH families. A total of 547 U.S. responses and 42 non-U.S. responses
were received. When questions were left unanswered, these numbers were excluded from
statistical analysis.

Most of the survey takers were parents of CAH patients. Of 534 people who described
their relationship to the patient, 128 (24.0%) were CAH patients, 374 (70.0%) were
parents, and 32 (6.0%) were other relatives of patients, e.g. grandparent, aunt/uncle,
or sibling. Sixty-six (12.4%) were parents of more than one affected child, 10 (1.9%)
were parents of affected children and patients themselves, and 4 (0.7%) were patients
who had affected siblings.

The majority of patients had classical CAH: 406 (76.5%) patients had classical CAH,
and 125 (23.5%) had non-classical CAH. The mean patient age at the time of the survey
was 17.6?±?15.5 years (range 2 months to 70 years). Median patient age was 12 years
(interquartile range?=?6 to 26 years).

Out of 537 responses, 359 (66.9%) patients were female (255 classical; 104 non-classical),
174 (32.4%) were male, and 4 (0.7%) answered “other”, e.g. more than one affected
or “not relevant.”

Of the 255 classical female patients, 30 neither had nor planned to have genital surgery
(non-surgical); 3 had received prenatal treatment. 223 classical females either had
genital surgery or planned to have surgery (surgical).

Awareness of the term DSD

Of 581 survey takers, 149 (25.6%) had previously heard the term DSD, 410 (70.6%) had
never heard the term before, and 22 (3.8%) were not sure. Compared to U.S. survey
takers, non-U.S. survey takers were more likely to have heard the term DSD, (24.1%
vs. 45.2% respectively, ?²?=?9.57, p 0.01) (see Figure 1a). Of those who were previously aware of the term, 80 (53.7%) heard it when researching
the internet, 29 (19.4%) at a conference, 27 (18.1%) when their child was born, and
6 (4.0%) at the first post-diagnosis appointment.

Figure 1. Response percentages regarding DSD. a: Have you ever heard the term “disorder of sexual development” or DSD? b: What do you think of the term DSD? c: How do you feel about clinics that monitor CAH patients being called DSD clinics?
Classical F?=?female patients with classical CAH; NC F?+?M?=?female patients with
non-classical CAH and male patients with any form of CAH. US?=?United States; Intl?=?International.
Parent?=?survey completed by the parent or family member of CAH patient; Self?=?survey
completed by the CAH patient

Opinion regarding DSD nomenclature

When asked what they think of the term DSD, 196 (33.7%) strongly dislike it, 217 (37.3%)
dislike it, 111 (19.1%) are neutral, 52 (8.9%) don’t mind it, and 6 (1.0%) like it
(see Figure 1b). There was no correlation between patient age and opinion regarding the term DSD:
r?= 0.02, p?=?0.64.

There was no statistical difference in mean opinion scores between classical females
and other CAH patients, between parents/family members and patients, between U.S.
and non-U.S. participants, or between surgical and non-surgical classical females
(see Table 1).

Table 1. Opinion scores regarding the terms “DSD” and “ambiguous genitalia”

Of 574 responses, 480 (83.6%) said they do not identify with the term DSD as either
a CAH parent or patient; 94 (16.4%) said they identify with the term DSD.

Views on clinics/centers and research using the term DSD

When asked how they feel about clinics that monitor CAH patients being called DSD
clinics, 282 (51.0%) strongly disagree, 128 (23.1%) somewhat disagree, 100 (18.1%)
are neutral, 29 (5.2%) somewhat agree, and 14 (2.5%) strongly agree (see Figure 1c).

When asked if they would seek care at a clinic or center that used the term DSD to
encompass CAH, 286 (49.5%) said No, 198 (34.2%) said Maybe, and 94 (16.3%) said Yes.

Regarding participation in research studies that use the term DSD instead of CAH,
310 (53.2%) said No, 200 (34.3%) said Maybe, and 73 (12.5%) said Yes.

Impact of DSD on the CAH community

Out of 580 responses, 441 (76.0%) believe that using the term DSD has a negative effect
on the CAH community; 105 (18.1%) are not sure; 18 (3.1%) feel it has a positive effect;
16 (2.8%) feel that it has no effect (see Figure 2).

Figure 2. In your opinion, what effect does using the term DSD have on the CAH community? (n?=?580).

Opinion regarding the term ambiguous genitalia

When asked what they think of the term ambiguous genitalia, 52 (9.0%) strongly dislike
it, 95 (16.4%) dislike it, 168 (29.0%) are neutral, 228 (39.4%) don’t mind it, and
36 (6.2%) like it (see Figure 3a). The mean opinion score of classical females (3.0?±?1.1) was significantly lower
than the mean opinion score of other CAH patients (3.4?±?0.9), p 0.01. There was no significant difference between parents and patients, between
U.S. and non-U.S., or between surgical and non-surgical classical females (see Table 1).

Figure 3. Response percentages regarding ambiguous genitalia. a: How do you feel about the term ‘ambiguous’ to describe genitalia at birth that are
not definitively male or female? b: If you would rather have an alternate way of describing genitalia at birth that
are not definitively male or female, what term(s) do you prefer? Please check all
that apply.

There was no correlation between patient age and opinion regarding the term ambiguous
genitalia: r?=?0.01; p?=?0.82.

There were 486 participants who selected alternate terms to describe genitalia at
birth that are not definitively male or female (see Figure 3b), with the highest percentage (35.4%) preferring nontypical genitalia.