open access

Vol 61, No 1 (2010)
Postgraduate education
Published online: 2010-03-04
Submitted: 2013-02-15
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults

Urszula Ambroziak, Tomasz Bednarczuk, Maria Ginalska-Malinowska, Ewa Maria Małunowicz, Barbara Grzechocińska, Paweł Kamiński, Leszek Bablok, Jerzy Przedlacki, Ewa Bar-Andziak
Endokrynologia Polska 2010;61(1):142-145.

open access

Vol 61, No 1 (2010)
Postgraduate education
Published online: 2010-03-04
Submitted: 2013-02-15

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency.
The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis.
Patients with CAH require constant monitoring of biochemical parameters (17a-hydroxyprogesterone [17-OHP] and androstenedione), clinical parameters (body mass, waist circumference, blood pressure, glucose, and lipids), and bone mineral density by densitometry. The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment.
Patients with classic CAH require treatment with glucocorticosteroids and, in cases of salt wasting, also with a mineralocorticosteroid. Radical measures, such as bilateral adrenalectomy, are very rarely needed.
Asymptomatic patients with non-classic CAH require monitoring: treatment is not always necessary.
Medical care for patients with CAH should be provided by reference centres, as the management of such patients requires collaboration between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, and psychologist.

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency.
The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis.
Patients with CAH require constant monitoring of biochemical parameters (17a-hydroxyprogesterone [17-OHP] and androstenedione), clinical parameters (body mass, waist circumference, blood pressure, glucose, and lipids), and bone mineral density by densitometry. The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment.
Patients with classic CAH require treatment with glucocorticosteroids and, in cases of salt wasting, also with a mineralocorticosteroid. Radical measures, such as bilateral adrenalectomy, are very rarely needed.
Asymptomatic patients with non-classic CAH require monitoring: treatment is not always necessary.
Medical care for patients with CAH should be provided by reference centres, as the management of such patients requires collaboration between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, and psychologist.
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Keywords

congenital adrenal hyperplasia; 21-hydroxylase; glucocorticosteroids

About this article
Title

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults

Journal

Endokrynologia Polska

Issue

Vol 61, No 1 (2010)

Pages

142-145

Published online

2010-03-04

Bibliographic record

Endokrynologia Polska 2010;61(1):142-145.

Keywords

congenital adrenal hyperplasia
21-hydroxylase
glucocorticosteroids

Authors

Urszula Ambroziak
Tomasz Bednarczuk
Maria Ginalska-Malinowska
Ewa Maria Małunowicz
Barbara Grzechocińska
Paweł Kamiński
Leszek Bablok
Jerzy Przedlacki
Ewa Bar-Andziak

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