Clinical outcomes in the management of congenital adrenal hyperplasia
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REVIEW
Clinical outcomes in the management of congenital adrenal hyperplasia Henrik Falhammar • Marja Thore´n
Received: 13 October 2011 / Accepted: 20 December 2011 / Published online: 7 January 2012 Ó Springer Science+Business Media, LLC 2012
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. Keywords 21-Hydroxylase deficiency Height Tumor Cardiovascular risk Fertility Insulin resistance
H. Falhammar (&) M. Thore´n Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, D2:04, 17176 Stockholm, Sweden e-mail: [email protected] H. Falhammar M. Thore´n Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Introduction In 1865, an astonishing case was described by the Italian Professor of anatomy Dr. Luigi De Crecchio [1]. He had conducted an autopsy on a certain Giuseppe Marzo who had a 6-cm long penis with first-grade hypospadia. No testes were found, but normal vagina, uterus, tubes, and ovaries. The adrenal glands were greatly enlarged. Guiseppe had been considered a female at birth but had been declared male at 4 years of age. Everybody close to him described him as a typical male socially and sexually. He experienced many episodes of vomiting and diarrhea and died in his 40s after such an episode. This case report is generally considered the first description of congenital adrenal hyperplasia (CAH) and several case reports followed. In 1939, electrolyte disturbances similar to those in adrenal insufficiency but with excessive androgen excretion were reported in a CAH boy. He responded well to treatment with sodium chloride and adrenocortical extract [2]. In the early 1950s, Wilkins [3, 4] introduced glucocorticoids in the treatment of CAH, and was also the first to describe that cortisone suppressed the elevated adrenal androgens. In 1984, White et al. [5] reported th
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