The Impact of Adherence and Therapy Regimens on Quality of Life in Patients With Congenital Adrenal Hyperplasia

Kerstin Ekbom; Anna Strandqvist; Svetlana Lajic; Angelica Hirschberg; Henrik Falhammar; Anna Nordenström


Clin Endocrinol. 2022;96(5):666-6789. 

In This Article

Abstract and Introduction


Objective: Varying outcomes regarding the quality of life (QoL) have been reported in patients with congenital adrenal hyperplasia (CAH). To assess the impact of adherence rate to medical therapy regimens on QoL in patients with CAH.

Patients: Adolescents and adults aged 15–72 years with CAH due to 21-hydroxylase deficiency at Karolinska University Hospital, Stockholm, Sweden.

Measurements: QoL was assessed using the Addison QoL (n = 72) and RAND 36 questionnaires (n = 75). Adherence to therapy regimens was measured using the Adherence Starts with Knowledge questionnaire (ASK-12). Associations between QoL, type of glucocorticoid therapy prescribed and ASK-12 results were examined. Results were compared to reference RAND 36 data obtained from a representative sample from the general Swedish population.

Results: A good adherence rate to therapy regimens and a younger age were key factors for a better QoL in study participants with CAH. Younger patients on hydrocortisone and with good adherence had higher RAND 36 scores than older patients on prednisolone independently adherence. Participants with classic CAH (both the salt-wasting and simple virilizing form) reported higher QoL than those with nonclassic CAH. Patients with CAH, especially nonclassic, more frequently reported an impaired QoL than the general population, especially regarding limitations related to body pain, vitality and mental health.

Conclusion: A poor adherence rate to therapy regimens, rather than type of glucocorticoid was associated with impaired QoL in adolescents and adults with CAH.


Congenital adrenal hyperplasia (CAH) is a rare endocrine disorder of adrenal steroid biosynthesis and is characterized by impaired cortisol synthesis, hypoaldosteronism and hyperandrogenism.[1,2] Life-long oral glucocorticoid supplementation is essential for patients with classic CAH, including the salt-wasting (SW) and the simple virilizing (SV) forms.[1] As standard glucocorticoid supplementation cannot entirely mimic the normal circadian cortisol rhythm, supraphysiological doses are often needed to reduce excessive levels of androgen, which can lead to long-term adverse effects.[3] In nonclassic (NC) CAH, which is the milder form of the disorder, glucocorticoid supplementation is not vital but is often used to control the symptoms of excessive androgen levels.[4]

Impaired quality of life (QoL) and psychological morbidity have been more frequently observed in patients with adrenal insufficiency than in normal populations.[5] Studies investigating health-related outcomes including QoL in patients with CAH have shown conflicting results. Some have reported poor QoL, while others have reported better, similar, or only mildly impaired QoL in patients with CAH when compared with controls or the general population.[6–9]

Patients' nonadherence to medical therapy regimens is a prevalent and persistent healthcare problem for healthcare providers. External factors, such as the healthcare system, therapy characteristics, duration of the disease and internal factors including patients' attitudes and beliefs regarding medication can all affect adherence.[10–12] An earlier retrospective, matched cohort study found that patients with CAH had higher mortality and depression rates and lower treatment adherence rates than matched controls.[13]

To understand the impact of adherence and type of glucocorticoid regimen on physical, mental and emotional health and social functioning in patients with CAH, several factors need to be studied. The aim of the present study was to assess the impact of adherence rates and therapy regimens on QoL in patients with CAH.