Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients

Wiebke Arlt; Debbie S. Willis; Sarah H. Wild; Nils Krone; Emma J. Doherty; Stefanie Hahner; Thang S. Han; Paul Carroll; Gerry S. Conway; D. Aled Rees; Roland H. Stimson; Brian R. Walker; John M. C. Connell; Richard J. Ross; United Kingdom Congenital Adrenal

doi:10.1210/jc.2010-0917

Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients

Wiebke Arlt, Debbie S. Willis, Sarah H. Wild, Nils Krone, Emma J. Doherty, Stefanie Hahner, Thang S. Han, Paul Carroll, Gerry S. Conway, D. Aled Rees, Roland H. Stimson, Brian R. Walker, John M. C. Connell, Richard J. Ross^*, United Kingdom Congenital Adrenal

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

380 Citations (Scopus)

Abstract

Context: No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size.

Objective: Our objective was to establish the health status of adults with CAH.

Design and Setting: We conducted a prospective cross-sectional study of adults with CAH attending specialized endocrine centers across the United Kingdom.

Patients: Participants included 203 CAH patients (199 with 21-hydroxylase deficiency): 138 women, 65 men, median age 34 (range 18-69) years.

Main Outcome Measures: Anthropometric, metabolic, and subjective health status was evaluated. Anthropometric measurements were compared with Health Survey for England data, and psychometric data were compared with appropriate reference cohorts.

Results: Glucocorticoid treatment consisted of hydrocortisone (26%), prednisolone (43%), dexamethasone (19%), or a combination (10%), with reverse circadian administration in 41% of patients. Control of androgens was highly variable with a normal serum androstenedione found in only 36% of patients, whereas 38% had suppressed levels suggesting glucocorticoid overtreatment. In comparison with Health Survey for England participants, CAH patients were significantly shorter and had a higher body mass index, and women with classic CAH had increased diastolic blood pressure. Metabolic abnormalities were common, including obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), osteopenia (40%), and osteoporosis (7%). Subjective health status was significantly impaired and fertility compromised.

Conclusions: Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. In the patients studied, glucocorticoid replacement was generally non-physiological, and androgen levels were poorly controlled. This was associated with an adverse metabolic profile and impaired fertility and quality of life. Improvements in the clinical management of adults with CAH are required.

Original language	English
Pages (from-to)	5110-5121
Number of pages	12
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	95
Issue number	11
DOIs	https://doi.org/10.1210/jc.2010-0917
Publication status	Published - Nov 2010

Keywords

BONE-MINERAL DENSITY
QUALITY-OF-LIFE
21-HYDROXYLASE DEFICIENCY
REST TUMORS
RELEASE HYDROCORTISONE
BODY-COMPOSITION
HIGH PREVALENCE
CELL FUNCTION
WOMEN
THERAPY

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1210/jc.2010-0917

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Arlt, W., Willis, D. S., Wild, S. H., Krone, N., Doherty, E. J., Hahner, S., Han, T. S., Carroll, P., Conway, G. S., Rees, D. A., Stimson, R. H., Walker, B. R., Connell, J. M. C., Ross, R. J., & United Kingdom Congenital Adrenal (2010). Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients. Journal of Clinical Endocrinology and Metabolism, 95(11), 5110-5121. https://doi.org/10.1210/jc.2010-0917

@article{e45e113333ce47909e115064a4a7a345,

title = "Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients",

abstract = "Context: No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size.Objective: Our objective was to establish the health status of adults with CAH.Design and Setting: We conducted a prospective cross-sectional study of adults with CAH attending specialized endocrine centers across the United Kingdom.Patients: Participants included 203 CAH patients (199 with 21-hydroxylase deficiency): 138 women, 65 men, median age 34 (range 18-69) years.Main Outcome Measures: Anthropometric, metabolic, and subjective health status was evaluated. Anthropometric measurements were compared with Health Survey for England data, and psychometric data were compared with appropriate reference cohorts.Results: Glucocorticoid treatment consisted of hydrocortisone (26%), prednisolone (43%), dexamethasone (19%), or a combination (10%), with reverse circadian administration in 41% of patients. Control of androgens was highly variable with a normal serum androstenedione found in only 36% of patients, whereas 38% had suppressed levels suggesting glucocorticoid overtreatment. In comparison with Health Survey for England participants, CAH patients were significantly shorter and had a higher body mass index, and women with classic CAH had increased diastolic blood pressure. Metabolic abnormalities were common, including obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), osteopenia (40%), and osteoporosis (7%). Subjective health status was significantly impaired and fertility compromised.Conclusions: Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. In the patients studied, glucocorticoid replacement was generally non-physiological, and androgen levels were poorly controlled. This was associated with an adverse metabolic profile and impaired fertility and quality of life. Improvements in the clinical management of adults with CAH are required.",

keywords = "BONE-MINERAL DENSITY, QUALITY-OF-LIFE, 21-HYDROXYLASE DEFICIENCY, REST TUMORS, RELEASE HYDROCORTISONE, BODY-COMPOSITION, HIGH PREVALENCE, CELL FUNCTION, WOMEN, THERAPY",

author = "Wiebke Arlt and Willis, {Debbie S.} and Wild, {Sarah H.} and Nils Krone and Doherty, {Emma J.} and Stefanie Hahner and Han, {Thang S.} and Paul Carroll and Conway, {Gerry S.} and Rees, {D. Aled} and Stimson, {Roland H.} and Walker, {Brian R.} and Connell, {John M. C.} and Ross, {Richard J.} and {United Kingdom Congenital Adrenal}",

year = "2010",

month = nov,

doi = "10.1210/jc.2010-0917",

language = "English",

volume = "95",

pages = "5110--5121",

journal = "Journal of Clinical Endocrinology and Metabolism",

issn = "0021-972X",

publisher = "Endocrine Society",

number = "11",

}

Arlt, W, Willis, DS, Wild, SH, Krone, N, Doherty, EJ, Hahner, S, Han, TS, Carroll, P, Conway, GS, Rees, DA, Stimson, RH, Walker, BR, Connell, JMC, Ross, RJ & United Kingdom Congenital Adrenal 2010, 'Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients', Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 11, pp. 5110-5121. https://doi.org/10.1210/jc.2010-0917

TY - JOUR

T1 - Health Status of Adults with Congenital Adrenal Hyperplasia

T2 - A Cohort Study of 203 Patients

AU - Arlt, Wiebke

AU - Willis, Debbie S.

AU - Wild, Sarah H.

AU - Krone, Nils

AU - Doherty, Emma J.

AU - Hahner, Stefanie

AU - Han, Thang S.

AU - Carroll, Paul

AU - Conway, Gerry S.

AU - Rees, D. Aled

AU - Stimson, Roland H.

AU - Walker, Brian R.

AU - Connell, John M. C.

AU - Ross, Richard J.

AU - United Kingdom Congenital Adrenal

PY - 2010/11

Y1 - 2010/11

N2 - Context: No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size.Objective: Our objective was to establish the health status of adults with CAH.Design and Setting: We conducted a prospective cross-sectional study of adults with CAH attending specialized endocrine centers across the United Kingdom.Patients: Participants included 203 CAH patients (199 with 21-hydroxylase deficiency): 138 women, 65 men, median age 34 (range 18-69) years.Main Outcome Measures: Anthropometric, metabolic, and subjective health status was evaluated. Anthropometric measurements were compared with Health Survey for England data, and psychometric data were compared with appropriate reference cohorts.Results: Glucocorticoid treatment consisted of hydrocortisone (26%), prednisolone (43%), dexamethasone (19%), or a combination (10%), with reverse circadian administration in 41% of patients. Control of androgens was highly variable with a normal serum androstenedione found in only 36% of patients, whereas 38% had suppressed levels suggesting glucocorticoid overtreatment. In comparison with Health Survey for England participants, CAH patients were significantly shorter and had a higher body mass index, and women with classic CAH had increased diastolic blood pressure. Metabolic abnormalities were common, including obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), osteopenia (40%), and osteoporosis (7%). Subjective health status was significantly impaired and fertility compromised.Conclusions: Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. In the patients studied, glucocorticoid replacement was generally non-physiological, and androgen levels were poorly controlled. This was associated with an adverse metabolic profile and impaired fertility and quality of life. Improvements in the clinical management of adults with CAH are required.

AB - Context: No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size.Objective: Our objective was to establish the health status of adults with CAH.Design and Setting: We conducted a prospective cross-sectional study of adults with CAH attending specialized endocrine centers across the United Kingdom.Patients: Participants included 203 CAH patients (199 with 21-hydroxylase deficiency): 138 women, 65 men, median age 34 (range 18-69) years.Main Outcome Measures: Anthropometric, metabolic, and subjective health status was evaluated. Anthropometric measurements were compared with Health Survey for England data, and psychometric data were compared with appropriate reference cohorts.Results: Glucocorticoid treatment consisted of hydrocortisone (26%), prednisolone (43%), dexamethasone (19%), or a combination (10%), with reverse circadian administration in 41% of patients. Control of androgens was highly variable with a normal serum androstenedione found in only 36% of patients, whereas 38% had suppressed levels suggesting glucocorticoid overtreatment. In comparison with Health Survey for England participants, CAH patients were significantly shorter and had a higher body mass index, and women with classic CAH had increased diastolic blood pressure. Metabolic abnormalities were common, including obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), osteopenia (40%), and osteoporosis (7%). Subjective health status was significantly impaired and fertility compromised.Conclusions: Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. In the patients studied, glucocorticoid replacement was generally non-physiological, and androgen levels were poorly controlled. This was associated with an adverse metabolic profile and impaired fertility and quality of life. Improvements in the clinical management of adults with CAH are required.

KW - BONE-MINERAL DENSITY

KW - QUALITY-OF-LIFE

KW - 21-HYDROXYLASE DEFICIENCY

KW - REST TUMORS

KW - RELEASE HYDROCORTISONE

KW - BODY-COMPOSITION

KW - HIGH PREVALENCE

KW - CELL FUNCTION

KW - WOMEN

KW - THERAPY

U2 - 10.1210/jc.2010-0917

DO - 10.1210/jc.2010-0917

M3 - Article

SN - 0021-972X

VL - 95

SP - 5110

EP - 5121

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 11

ER -

Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients

Abstract

Keywords

UN SDGs

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