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Clinical outcomes in the management of congenital adrenal hyperplasia

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Abstract

Congenital adrenal hyperplasia (CAH) is a group of disorders affecting adrenal steroid synthesis. The most common form, 21-hydroxylase deficiency, leads to decreased production of cortisol and aldosterone with increased androgen secretion. In classic CAH glucocorticoid treatment can be life-saving, and provides symptom control, but must be given in an unphysiological manner with the risk of negative long-term outcomes. A late diagnosis or a severe phenotype or genotype has also a negative impact. These factors can result in impaired quality of life (QoL), increased cardiometabolic risk, short stature, osteoporosis and fractures, benign tumors, decreased fertility, and vocal problems. The prognosis has improved during the last decades, thanks to better clinical management and nowadays the most affected patients seem to have a good QoL. Very few patients above the age of 60 years have, however, been studied. Classifying patients according to genotype may give additional useful clinical information. The introduction of neonatal CAH screening may enhance long-term results. Monitoring of different risk factors and negative consequences should be done regularly in an attempt to improve clinical outcomes further.

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Acknowledgment

The authors wish to acknowledge the excellent linguistic help from Sue Maxwell, RN, in the preparation of this manuscript.

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  1. Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, D2:04, 17176, Stockholm, Sweden

    Henrik Falhammar & Marja Thorén

  2. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

    Henrik Falhammar & Marja Thorén

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  1. Henrik Falhammar
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  2. Marja Thorén
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Correspondence to Henrik Falhammar.

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Falhammar, H., Thorén, M. Clinical outcomes in the management of congenital adrenal hyperplasia. Endocrine 41, 355–373 (2012). https://doi.org/10.1007/s12020-011-9591-x

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