Original Paper

HOR MON E Horm Res Paediatr 2015;84:165–171 Received: February 3, 2015

RE SE ARCH I N DOI: 10.1159/000435855 Accepted: June 9, 2015
Published online: August 1, 2015
PÆDIATRIC S

Health-Related Quality of Life in Children

with Congenital Adrenal Hyperplasia
Mabel Yau a Maria Vogiatzi b Ariana Lewkowitz-Shpuntoff a Saroj Nimkarn c
       

Karen Lin-Su b   

a
Department of Pediatric Endocrinology, Icahn School of Medicine at Mount Sinai, and b Department of Pediatric
   

Endocrinology, New York Presbyterian Hospital, Weill Cornell Medical Center, New York, N.Y., USA; c Department of
 

Pediatric Endocrinology, Bumrungrad International Hospital, Bangkok, Thailand

Key Words Introduction

Congenital adrenal hyperplasia · Quality of life · PedsQL 4.0
generic core scales Over the past 2 decades, increasing attention has been
given by health care providers to the psychosocial aspects
of patients’ lives. The Center for Disease Control defines
Abstract quality of life (QOL) as ‘a broad multidimensional con-
Background/Aims: Factors in congenital adrenal hyperplasia cept that usually includes subjective evaluations of both
(CAH) that may affect quality of life (QOL) include the need for positive and negative aspects of life’. The impact of chron-
lifelong medication, the risk of adrenal crisis, and hyperandro- ic conditions such as cancer, obesity, diabetes, and rheu-
genic symptoms. The objectives were to evaluate health-re- matologic disorders on children’s QOL has been well de-
lated QOL (HRQOL) in children with CAH, and whether CAH scribed [1]. Moreover, various chronic disorders may im-
poses an additional burden compared to other endocrine dis- pact different aspects of a patient’s life. For example,
orders. Methods: The validated PedsQL 4.0 generic core using health-related QOL (HRQOL) questionnaires, chil-
scales were administered to subjects (8–18 years) with CAH dren with obesity have reported greater difficulties in the
and hypothyroidism and their parents. The minimal clinically area of social functioning compared to youth with epi-
important difference (MCID) was determined for each scale lepsy and type 1 diabetes mellitus [1]. While there are
score, allowing a comparison with the healthy population. A some reports of psychosocial outcomes in adults with
score of >1 standard deviation below the population mean congenital adrenal hyperplasia (CAH), there are limited
was considered at risk for impaired HRQOL. Results: In CAH, data on the pediatric population with CAH regarding
the mean total HRQOL scores were >1 MCID below the popu- QOL.
lation mean, and a higher percentage than expected had Clinical factors in CAH that may affect a patient’s
scores considered at risk. Conclusion: Compared to subjects QOL include the need for lifelong medication, the risk
with hypothyroidism, subjects with CAH self-reported lower of a life-threatening adrenal crisis, and symptoms of hy-
school domain scores. CAH subjects more frequently report- perandrogenism. Recent studies on adults report mixed
ed peers not wanting to be friends. © 2015 S. Karger AG, Basel results. Some studies have shown that certain therapies
198.143.32.65 - 1/26/2016 7:36:14 PM

© 2015 S. Karger AG, Basel Mabel Yau, MD

University of Pittsburgh

1663–2818/15/0843–0165$39.50/0 Department of Pediatric Endocrinology

Icahn School of Medicine at Mount Sinai
Downloaded by:

E-Mail [email protected]
1 Gustave Levy Place, Box 1198, New York, NY 1198 (USA)
www.karger.com/hrp
E-Mail mabelyaumd @ gmail.com
for CAH, such as dexamethasone, may negatively im- Subjects and Methods
pact HRQOL [2], while others report impaired health
Children with CAH and hypothyroidism between the ages of 8
status and working ability among adults with the classic and 18 years who were evaluated at our university-affiliated pedi-
form of the disease [2]. Among women with CAH, con- atric endocrinology clinic were recruited. Recruitment for CAH
cerns regarding fertility, increased anxiety about dis- was also performed through the CARES (Congenital Adrenal Hy-
closing the diagnosis to others, and decreased satisfac- perplasia Research Education and Support) Foundation, an inter-
tion with sexual functioning have been reported [3, 4]. national nonprofit patient support organization. Exclusion criteria
were an inability to read English or independently complete the
However, other data also suggest that patients function survey, additional chronic illness, or another acute disease that
normally and have a good overall psychological adjust- may impact the subjects’ clinical conditions. Written parental con-
ment [5]. Most recently, a study of 588 CAH adults in sent and child assent were obtained prior to participation in the
Sweden showed that the total cohort of CAH patients study.
did not differ greatly from the general population in HRQOL was assessed using the PedsQL 4.0 generic core scales,
which is a validated pediatric HRQOL inventory [9]. Information
terms of education, employment, income, sick leave, on demographics and medical management was obtained by an
disability pension, social welfare, marriage, or children additional intake form that was administered at the same time as
[6]. However, a subanalysis revealed that outcomes were the PedsQL. The PedsQL 4.0 includes an age group-specific self-
worse among women and those affected with the classic report for the patient as well as a parent proxy report. It consists of
form of the disease [7]. 23 questions that are subdivided into 4 domains: physical, emo-
tional, social, and school functioning; each domain has specific
Pediatric outcome data on HRQOL in CAH are sparse. itemized questions. The physical domain has 8 items: difficulty
Adults have identified experiences during their child- with walking, running, sports or exercise, lifting, bathing, house
hood that have negatively impacted them, including the chores, feeling pain, and having low energy. The emotional do-
processes involved in understanding or becoming aware main has 5 items: fear, sadness, anger, insomnia, and worrying
of CAH, hospitalizations for adrenal crises, and surgical about the future. The social domain contains 5 items, which in-
clude having trouble getting along, feeling unwanted, feeling
interventions to correct genitourinary conditions in fe- teased, not being able to do things others their age can do, and
males [4]. In contrast, a recent study of children with keeping up with their peers. The school domain has 5 items: focus,
CAH in a Dutch population showed few negative effects memory, keeping up with school/work load, absences due to
of CAH on physical, social, and societal functioning based health status, and absences due to doctor appointments and hos-
on a self-designed questionnaire [6]. Clearly, more re- pital visits.
The scoring for each question is on a 5-point scale: from 0 =
search is needed to identify the aspects of a child’s QOL ‘never a problem’ to 4 = ‘almost always a problem’. Each score of
that may be impaired. 0–4 was converted to a 0–100 metric scale and then averaged with-
The objective of this study was to evaluate changes in in its categories as well as individually analyzed. Higher scores rep-
HRQOL in children affected by CAH. Beyond concerns resent better HRQOL. Categorical scores were only averaged if
related to chronic illness, children with CAH may face ≥50% of the items in the scale were answered.
unique challenges related to possible sexual precocity, Statistical Analysis
hyperandrogenism, or genital ambiguity. To under- Descriptive statistics were used to calculate the mean and stan-
stand if CAH poses an additional burden on QOL com- dard deviation (SD) scores of the child self-report and the parent
pared to children with other chronic endocrine disor- proxy report for each PedsQL domain. A subgroup analysis was
ders, we also tested children affected with hypothyroid- performed for various types of CAH.
The mean scores for the general pediatric population for each
ism [8]. Similar to CAH, the treatment of hypothyroidism functional domain in the PedsQL 4.0 questionnaire were pub-
requires the administration of daily medication and lished by Varni and colleagues [10–12] and were compared to the
continuous medical assessment through childhood, mean scores of children with CAH. The minimal clinically im-
with frequent laboratory testing and medical visits. Hy- portance difference (MCID) was determined for each domain
pothyroidism can be congenital or acquired and, thus, using the standard error of measurement (SEM), as previously
described [10]. MCID is defined as the ‘smallest difference in a
has a bimodal age at presentation similar to CAH, which score of a domain of interest that patients perceive to be benefi-
can present either in the newborn period as classic dis- cial and that would mandate, in the absence of troublesome side
ease or later on in life as nonclassic disease. Contrary to effects and excessive costs, a change in the patient’s management’
CAH, however, hypothyroidism does not carry the [12].
physical stigmata that may be associated with preco- Impaired HRQOL or ‘at risk’ status was defined as a PedsQL
score of at least 1 SD below the general pediatric population mean,
cious puberty or hyperandrogenism, and its study may as previously described [10–12]. The percentage of CAH subjects
highlight HRQOL aspects uniquely affected in children with scores below the cutoff point for the ‘at risk’ status was calcu-
with CAH. lated for each domain score.
198.143.32.65 - 1/26/2016 7:36:14 PM

166 Horm Res Paediatr 2015;84:165–171 Yau/Vogiatzi/Lewkowitz-Shpuntoff/

University of Pittsburgh

DOI: 10.1159/000435855 Nimkarn/Lin-Su

Downloaded by:
 Table 1. Demographic and clinical characteristics

CAH Hypothyroidism
(n = 33) (n = 14)

Disease classification, % Classic: 82 Congenital: 50

Nonclassic: 18 Acquired: 50
Gender*, %
Female 51 93
Male 49 7
Mean age at diagnosis*, years Classic: 0.5 (0.02 – 4.75) Congenital: 1.9 (0.02 – 6)
Nonclassic: 5.4 (1.08 – 13) Acquired: 12.3 (7.7 – 15)
Mean age at assessment, years Classic: 11.7 (6 – 18) Congenital: 14.2 (9 – 17)
Nonclassic: 13.5 (8 – 16) Acquired: 13.5 (8 – 16)
Frequency of visits/year* ± SD Classic: 3.7 ± 2.6 Congenital: 1.7 ± 0.52
Nonclassic: 3.7 ± 1.0 Acquired: 2.4 ± 1.3
Ethnicity*, %
Caucasian 94 64
Asian 6 21
Hispanic 1
Unknown 14
Family income, %
<50,000 USD 24 7
50,000 – 150,000 USD 33 22
>150,000 USD 64
Unknown 43 7

Figures in parentheses are ranges. * p < 0.05.

The two-sided independent t test was used to compare the visits was the same between subjects with classic and non-
PedsQL domain scores between the two groups, i.e. CAH versus classic CAH, at an average of 3.7 visits per year. There was
hypothyroid subjects and subcategories within CAH based on the an equal distribution of males and females. Of the subjects
classification of CAH (classic vs. nonclassic). The concordance be-
tween child self-report and parent self-report was determined with hypothyroidism, 50% had acquired disease and 50%
through Pearson’s correlation coefficients. p values <0.05 were congenital hypothyroidism. As a group, they were older
considered statistically significant. Statistical analyses were per- than the CAH patients at diagnosis and primarily female.
formed using SAS and Microsoft Excel. Visits were less frequent compared to the CAH subjects.

Comparison of CAH Children to the Healthy

Results Population
Table 2 summarizes the HRQOL results for the CAH
Subject Characteristics participants by child and parent report as well as the
Forty-seven subjects were recruited, of whom 33 were scores for various PedsQL domains. Children with CAH
affected by CAH and 14 by hypothyroidism. The subjects’ reported a total QOL score that was 4.8 points lower than
clinical and demographic characteristics are presented in the general pediatric mean (table  2, second to last col-
table 1. Of the subjects with CAH, 82% had classic (73% umn). This difference was >1 SEM below the normal pop-
salt wasting, 9% simple virilizing) and 18% had nonclassic ulation, a response that is lower than the MCID. Chil-
CAH. The mean age at diagnosis was 0.5 years (range 0.02– dren’s scores in various domains (i.e. physical, emotional,
4.75) for subjects with classic CAH and 5.4 years (range social, and work/school) were in the normal range. Par-
1–13) for those with nonclassic CAH. The frequency of ents of children with CAH reported lower total and emo-
198.143.32.65 - 1/26/2016 7:36:14 PM

QOL in Children with CAH Horm Res Paediatr 2015;84:165–171 167

University of Pittsburgh

DOI: 10.1159/000435855
Downloaded by:
 Table 2. HRQOL results for children with CAH using the PedsQL 4.0 generic core scales

Scale General pediatric CAH Difference between CAH subjects

population CAH and general with scores 1 SD
population mean below the mean for
scores vs. SEM (MCID) the general
of the general population population, %

Child report
Total 82.9 ± 13.2 78.1 ± 18.9 – 4.8 vs. 4.36* 23.3**, †
Physical 86.9 ± 13.9 86.8 ± 18.2 – 0.1 vs. 6.66 23.3**, †
Emotional 78.2 ± 18.6 78.6 ± 20.3 0.4 vs. 8.94 23.3**, †
Social 84.0 ± 17.4 84.8 ± 23.4 – 0.8 vs. 8.36 23.3**, †
School 79.9 ± 16.9 74.8 ± 23.8 – 5.1 vs. 9.12 33.3**
Parent report
Total 81.3 ± 15.9 73.1 ± 20.4 – 8.2 vs. 4.5* 26.7**
Physical 83.3 ± 20.0 80.0 ± 21.3 – 3.3 vs. 6.92 16.7
Emotional 80.3 ± 17.0 66.7 ± 21.4 –16.6 vs. 7.79* 33.3**, †
Social 82.2 ± 20.1 74.6 ± 25.6 – 7.6 vs. 8.98 20*
School 76.9 ± 20.2 67.3 ± 25.5 – 9.6 vs. 9.67 33.3**, †

Scores are presented as the mean ± SD. Population mean scores were obtained from Varni and colleagues [10
– 12].
* The difference between the CAH mean and the healthy population mean is >1 SEM and constitutes an
MCID. Abnormal results are set in bold.
** Subjects with scores 1 SD below the population mean are considered to have impaired HRQOL or to be at
risk. The percentage of subjects whose scores fell below the cutoff point for each domain are reported; those
greater than expected in the general population are set in bold.
† Although percentages are the same in these domains, the individual subjects within each domain are different.

tional HRQOL scores than the MCID (table  2), while

scores in the physical and social domains were in the nor-
100 mal range. Their responses in the school domain were
very close to the MCID. The mean domain scores for chil-
Child and parent mean scores

80
dren with CAH and their parents compared to the healthy
population are shown in figure 1.
The ‘at risk’ status for impaired HRQOL was also de-
60
termined by calculating the percentage of children with
CAH whose scores fell below 1 SD of the general pediatric
40 mean. The expected percentage of a population that is
Children with CAH found 1 SD below the mean is about 16%. The percentage
Children from the general population of children with CAH who reported scores in the im-
20
Parents of children with CAH
Parents from the general population
paired or ‘at risk’ state ranged from 23.3 to 33.3%, which
0
are all greater than the 16% that is expected for the gen-
Total Physical Emotional Social School eral population (table 2, last column). These results sug-
gest that children with CAH perceive themselves as hav-
ing impaired HRQOL more frequently than unaffected
Fig. 1. HRQOL results for children with CAH using the PedsQL children. Parents similarly reported greater percentages
4.0 generic core scales compared to the healthy population. For of CAH children with scores in the ‘at risk’ range in all
each domain, the mean scores with SD reported by children with
CAH and their parents are compared to scores reported by healthy domains except for the physical domain (table 2).
children and their parents. The population mean scores were ob- On item analysis, both parents and subjects with CAH
tained from Varni and colleagues [10–12]. more frequently reported absences from school due to
198.143.32.65 - 1/26/2016 7:36:14 PM

168 Horm Res Paediatr 2015;84:165–171 Yau/Vogiatzi/Lewkowitz-Shpuntoff/

University of Pittsburgh

DOI: 10.1159/000435855 Nimkarn/Lin-Su

Downloaded by:
Table 3. Pearson correlation coefficients between child self-report pared to subjects with hypothyroidism. Parents of sub-
and parent proxy report scales jects with CAH >10 years more frequently reported their
children feeling afraid/scared, teased, and sad/blue com-
Scale R coefficient p value
pared to parents of subjects with hypothyroidism.
Total score 0.86 <0.0001 A two-sample t test sample size calculation to achieve
Physical 0.87 <0.0001 at least 80% power to detect a difference between subjects
Emotional 0.69 <0.0001 with CAH and those with hypothyroidism was per-
Social 0.76 <0.0001 formed. Seventy-three subjects with CAH and 37 subjects
School 0.78 <0.0001
with hypothyroidism are needed to detect a difference in
the school domain based on self-report. Ninety-seven
subjects with CAH and 49 subjects with hypothyroidism
Table 4. HRQOL results for children with CAH and hypothyroid- are needed to detect a difference in the social domain
ism using the PedsQL 4.0 generic core scales based on self-report. Smaller numbers of subjects are
needed to detect a difference in these domains based on
Scale CAH Hypothyroidism
parent proxy report.
Child report
Total 78.1 ± 18.9 80.0 ± 10.3 Subgroup Analysis within CAH Subjects
Physical 86.8 ± 18.2 89.8 ± 11.7 No statistically significant differences in overall
Emotional 78.6 ± 20.3 77.9 ± 20.4 HRQOL or specific domains were noted on subgroup
Social 84.8 ± 23.4 91.4 ± 12.5
School 74.8 ± 23.8 83.2 ± 14.0*
analysis of subjects with CAH based on gender, classifica-
Parent report tion of CAH, dose of hydrocortisone, or age.
Total 73.1 ± 20.4 82.3 ± 15.2
Physical 80.0 ± 21.3 88.1 ± 13.7
Emotional 66.7 ± 21.4 73.2 ± 15.5 Discussion
Social 74.6 ± 25.6 85.7 ± 20.5
School 67.3 ± 25.5 78.6 ± 21.2
This study indicates that HRQOL may be adversely af-
Data are given as the mean ± SD. * p < 0.05. fected in children with CAH. The study utilized a vali-
dated pediatric HRQOL measurement model that allows
for the recording of both child and parent perception
about the impact of disease on a child’s QOL. As a group,
doctor appointments, hospitalizations, and not feeling children with CAH reported lower overall HRQOL com-
well. In terms of social functioning, both parents and sub- pared to the general population. In addition, a greater
jects more frequently reported other children not want- percentage of children with CAH felt that their physical,
ing to be friends. emotional, social, and school functioning are impaired
There is a strong statistically significant correlation compared to the general pediatric population.
between child self-report and parent proxy report for Parent reports were similar. Overall, we observed a
PedsQL scale scores (table 3). strong correlation between child self-report and parent
proxy report HRQOL scores for all domains, which is
Comparison of CAH to Hypothyroidism consistent with other studies [11]. According to our re-
Children with hypothyroidism had normal HRQOL sults, parents of children with CAH perceive their chil-
scores both by child and parent report. When subjects dren to be overall more vulnerable than their peers. Look-
with CAH were compared to those with hypothyroidism ing into specific areas of the parent reports, lower scores
(table 4), children with CAH reported significantly lower were observed in the emotional domain (consisting of
scores in the school domain compared to children with questions about feelings of fear, sadness, anger, and fear
hypothyroidism (74.8 ± 23.8 vs. 83.2 ± 14.0; p = 0.02). No about the future) and the school domain (addressing is-
differences were identified by parent report, although sues of absences and keeping up with school work). The
there was a trend for lower values among CAH parents, results are not surprising, since these children require fre-
particularly in social and school functioning. quent medical procedures and doctor’s visits, which can
On item analysis, children with CAH reported other lead to both feelings of anxiety and school absences. In
children not wanting to be friends more frequently com- our study, the average number of visits was 3.7 per year.
198.143.32.65 - 1/26/2016 7:36:14 PM

QOL in Children with CAH Horm Res Paediatr 2015;84:165–171 169

University of Pittsburgh

DOI: 10.1159/000435855
Downloaded by:
In terms of physical function (i.e. sports performance, en- the MCID has been defined as the smallest difference in
ergy level, feeling pain, etc.), parents felt that the CAH a score of a domain of interest that patients perceive ben-
children were normal. In social functioning, both CAH eficial and that would mandate a change in patient man-
subjects and their parents more frequently reported other agement. Using this index, children with CAH and their
children not wanting to be friends. parents report an overall decrease in QOL, while parents
In children with type 1 and 2 diabetes mellitus studied also report lower functioning in the emotional domain.
by Varni et al. [13] using the same PedsQL 4.0 generic core In this study, we also compared the HRQOL outcomes
scales, there was a significant difference between healthy of children with hypothyroidism to those of children with
children and children with diabetes for all scales except in CAH using the same PedsQL scales. We detected lower
the case of physical functioning and social functioning scores in school performance by self-report in children
based on self-report. The difference between the scale with CAH compared to those with hypothyroidism. Again,
scores of the 191 subjects with type 1 diabetes mellitus and the increased number of school absences in CAH subjects
the general population mean scores were not greater than may be behind these findings, as subjects with CAH and
the MCID [10–13]. There was a significant difference be- their parents reported missing school for both illness and
tween healthy children and children with diabetes in all doctor’s appointments more frequently that children with
scales based on parent proxy report. Based on parent proxy hypothyroidism. No other differences were documented
report, the differences between scale scores of children with between CAH and hypothyroid children, though we ob-
type 1 diabetes and the general population mean scores served a general trend towards lower scores in CAH pa-
were greater than the MCID for total QOL and the emo- tients. It is possible that we were unable to detect small
tional domain [10–13]. These results in subjects with type differences between groups because of the small sample
1 diabetes are similar to those found in our subjects with size, especially among the hypothyroid participants.
CAH, suggesting a similar chronic disease burden on QOL. Previous studies have noted a difference in HRQOL in
Previous research on HRQOL in CAH patients has pri- adult females; however, our small sample size and high
marily focused on adults [2–7, 14], whereas pediatric data percentage of female subjects did not allow for sufficient
have been limited. A recent study from the Netherlands power to detect differences based on gender. Another
documented few negative effects of the disease on physical, limitation of our study is the use of a generalized ques-
social, and societal functioning [8]. However, the study tionnaire rather than one targeted for children with CAH.
used self-designed questionnaires, which hinders compar- The questionnaire also lacked open-ended questions that
isons to other studies. Another study that included both may have been able to provide more qualitative data.
children and adults with CAH reported normal psycho-
logical adjustment [7]. Differences in methodology may
explain some of these differences in outcomes. Finally, the Conclusion
PedsQL questionnaire was used in an Australian study of
54 children with various disorders of sex development, in- Children with CAH have an overall decrease in
cluding 16 girls with CAH [15]. In this mixed cohort, a HRQOL compared to healthy children as well as lower
decrease in psychosocial aspects of HRQOL was observed, HRQOL compared to hypothyroid children in school
while physical function was close to normal [15]. functioning. Future studies employing more descriptive
There is no HRQOL scale designed and validated spe- data may aid in our understanding of social functioning
cifically for children with CAH. In this study, we used the in children with CAH and allow for more specific thera-
generic core scales of the PedsQL 4.0 measurement mod- peutic measures to be developed. Additional investiga-
el [10–12]. The PedsQL 4.0 is a validated generic HRQOL tion may also provide insight into issues unique to chil-
measurement instrument developed to examine a broad dren growing up with CAH, thus guiding the develop-
age range. It has been used extensively in numerous clin- ment of behavioral approaches to assist families and
ical and research settings that evaluate various pediatric further improve QOL.
chronic health disorders. The PedsQL 4.0 generic core
scales distinguish between healthy children and children
with chronic health conditions, demonstrating sensitivity Acknowledgement
for disease severity and responsiveness. Results have been
The authors would like to acknowledge the CARES Foundation
shown to predict prospective pediatric health care utiliza-
for their help with patient recruitment.
tion and to impact clinical decision-making. Specifically,
198.143.32.65 - 1/26/2016 7:36:14 PM

170 Horm Res Paediatr 2015;84:165–171 Yau/Vogiatzi/Lewkowitz-Shpuntoff/

University of Pittsburgh

DOI: 10.1159/000435855 Nimkarn/Lin-Su

Downloaded by:
 References
1 Ingerski LM, Modi AC, Hood KK, Pai AL, of sexual development: congenital adrenal hy- 10 Varni JW, Seid M, Kurtin PS: PedsQL 4.0: re-
Zeller M, Piazza-Waggoner C, et al: Health- perplasia. Int J Pediatr Endocrinol 2010;2010: liability and validity of the Pediatric Quality
related quality of life across pediatric chronic 253465. of Life Inventory version 4.0 generic core
conditions. J Pediatr 2010;156:639–644. 6 Strandqvist A, Falhammar H, Lichtenstein P, scales in healthy and patient populations.
2 Arlt W, Willis DS, Wild SH, Krone N, Doherty Hirschberg AL, Wedell A, Norrby C, et al: Med Care 2001;39:800–812.
EJ, Hahner S, Han TS, Carroll PV, Conway Suboptimal psychosocial outcomes in pa- 11 Varni JW, Burwinkle TM, Seid M, Skarr D:
GS, Rees DA, Stimson RH, Walker BR, Con- tients with congenital adrenal hyperplasia: The PedsQL 4.0 as a pediatric population
nell JM, Ross RJ; United Kingdom Congenital epidemiological studies in a nonbiased na- health measure: feasibility, reliability, and va-
Adrenal Hyperplasia Adult Study Executive tional cohort in Sweden. J Clin Endocrinol lidity. Ambul Pediatr 2003;3:329–341.
(CaHASE): Health status of adults with con- Metab 2014;99:1425–1432. 12 Varni JW, Burwinkle TM, Seid M: The PedsQL
genital adrenal hyperplasia: a cohort study of 7 Berenbaum SA, Korman Bryk K, Duck SC, as a pediatric patient-reported outcome: reli-
203 patients. J Clin Endocrinol Metab 2010; Resnick SM: Psychological adjustment in ability and validity of the PedsQL Measure-
95:5110–5121. children and adults with congenital adrenal ment Model in 25,000 children. Expert Rev
3 Nermoen I, Husebye ES, Svartberg J, Lovas K: hyperplasia. J Pediatr 2004;144:741–746. Pharmacoecon Outcomes Res 2005;5:705–719.
Subjective health status in men and women 8 Sanches SA, Wiegers TA, Otten BJ, Claahsen- 13 Varni JW, Burwinkle TM, Jacobs JR, Gott-
with congenital adrenal hyperplasia: a popu- van der Grinten HL: Physical, social and soci- schalk M, Kaufman F, Jones K: The PedsQL
lation-based survey in Norway. Eur J Endo- etal functioning of children with congenital in type 1 and type 2 diabetes. Diabetes Care
crinol 2010;163:453–459. adrenal hyperplasia (CAH) and their parents, 2003;26:631–637.
4 Nordenskjold A, Holmdahl G, Frisen L, Fal- in a Dutch population. Int J Pediatr Endocri- 14 Zainuddin AA, Grover SR, Shamsuddin K,
hammar H, Filipsson H, Thoren M, et al: Type nol 2012;2012:2. Mahdy ZA: Research on quality of life in fe-
of mutation and surgical procedure affect 9 Leger J, Ecosse E, Roussey M, Lanoe JL, Lar- male patients with congenital adrenal hyper-
long-term quality of life for women with con- roque B; French Congenital Hypothyroidism plasia and issues in developing nations. J Pe-
genital adrenal hyperplasia. J Clin Endocrinol Study Group: Subtle health impairment and diatr Adolesc Gynecol 2013;26:296–304.
Metab 2008;93:380–386. socioeducational attainment in young adult 15 Crawford JM, Warne G, Grover S, Southwell
5 Malouf MA, Inman AG, Carr AG, Franco J, patients with congenital hypothyroidism di- BR, Hutson JM: Results from a pediatric sur-
Brooks LM: Health-related quality of life, agnosed by neonatal screening: a longitudinal gical centre justify early intervention in disor-
mental health and psychotherapeutic consid- population-based cohort study. J Clin Endo- ders of sex development. J Pediatr Surg 2009;
erations for women diagnosed with a disorder crinol Metab 2011;96:1771–1782. 44:413–416.

198.143.32.65 - 1/26/2016 7:36:14 PM

QOL in Children with CAH Horm Res Paediatr 2015;84:165–171 171

University of Pittsburgh

DOI: 10.1159/000435855
Downloaded by: