Congenital adrenal hyperplasia guideline resources. Congenital adrenal hyperplasia an overview sciencedirect. Pdf congenital adrenal hyperplasia cah is the most common cause of female pseudohermaphroditism in indian children. Congenital adrenal hyperplasia cah encompasses a family of autosomal recessive disorders characterized by mild to acutely impaired cortisol synthesis due to a deficiency in one of the five adrenal steroidogenic enzymes required for cortisol production 1, 2. Congenital adrenal hyperplasia approach bmj best practice.
Congenital adrenal hyperplasia diagnosis treatment and. The management of congenital adrenal hyperplasia is beyond the scope of this chapter. Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. Congenital adrenal hyperplasia cah is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. More than 90% of cah cases are caused by a deficiency of the adrenal steroid enzyme 21hydroxylase cyp21a2. Diagnosis and management of congenital adrenal hyperplasia. Congenital adrenal hyperplasia, cyp21a2, ambiguous genitalia.
Management approaches to congenital adrenal hyperplasia in adolescents and adults. Cah is an autosomal recessive genetic condition, the most common form being due to 21 hydroxylase deficiency. Conventionally, cah is divided into a classical ccah, presenting with saltwasting or the simple. In diffuse hyperplasia, the limbs of the adrenal glands are. Management of childhood congenital adrenal hyperplasiaan. Management of congenital adrenal hyperplasia in childhood. Management during illness or stress can be challenging and within hours can result in. Nonclassic congenital adrenal hyperplasia ncah is an autosomal recessive disorder caused by a deficiency of one of the enzymes involved in adrenal steroid. Congenital adrenal hyperplasia cah refers to a family of inherited disorders of adrenal steroidogenesis. Congenital adrenal hyperplasia causes and treatment patient.
Congenital adrenal hyperplasia cah is a genetic condition you are born with. With parental support and appropriate endocrine management. Pdf diagnosis and management of congenital adrenal hyperplasia. Impairment of cortisol biosynthesis results in overstimulation of the adrenal glands and excessive androgen production. Congenital adrenal hyperplasia in the newborn pdf minnesota. Latest therapeutic deve lopments 69 expression of a wide variety of genes.
However, the infant should be treated using appropriate electrolyte solutions and an intravenous preparation of hydrocortisone in stress doses under the supervision of a pediatric endocrinologist. Diagnosis and management of congenital adrenal hyperplasia in. Despite optimal substitution therapy, control of classical cah is often inadequate at puberty, and the problems encountered relate to hypocortisolism and. In classical cah, the body produces more androgens male hormones than it needs. The clinical management of congenital adrenal hyperplasia cah involves suppression of adrenal androgen production, in addition to. Management should be viewed as a process of care which requires input from an interdisciplinary team. Cah is suspected in females who are virilized at birth, who become virilized postnatally, or who have precocious puberty or adrenarche. Congenital adrenal hyperplasia due to steroid 21hydroxylase deficiency. Adrenal hyperplasia refers to nonmalignant growth enlargement of the adrenal glands and is a rare cause of acthindependent cushing syndrome, with unilateral adrenal cortical adenomas being the commonest. In order for a child to be born with cah, both parents must be carriers of the mutated gene and pass it on to their baby. These hormone imbalances can lead to serious illness, early puberty, growth concerns and other problems. People with cah cannot properly make some hormones that are essential to maintain life. Glucocorticoid therapy aiming to suppress adrenocorticotrophic hormone acthmediated hyperandrogenemia and to replace glucocorticoid deficiency, if indicated, remains the first line of management in cah with or without mineralocorticoid replacement. Congenital adrenal hyperplasia cah can present management challenges to the pediatric clinician.
Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often a. Cah is associated with short stature in adults even when optimal adrenal hormonal control is maintained throughout childhood and puberty. The common functional defect in each disorder is impaired cortisol secretion, resulting in hypersecretion of corticotropinreleasing hormone crh and adrenocorticotropic hormone acth and consequent hyperplasia of the adrenal glands. What are the treatments for congenital adrenal hyperplasia.
Individualizing management of infertility in classic. The dose of mineralocorticoid may be as critical as the dose of glucocorticoid in the management of congenital adrenal hyperplasia, and regular determination of plasma renin activity should be made, particularly if clinical control is difficult. Full text full text is available as a scanned copy of the original print version. Management of the female with nonclassical congenital. Early diagnosis of saltlosing congenital adrenal hyperplasia in a newborn boy. Testicular adrenal rest tumors tarts are a common cause of male infertility in patients with classic congenital adrenal hyperplasia cah. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence.
Congenital adrenal hyperplasia guideline resources endocrine. Emphasizes shared decision making among congenital adrenal hyperplasia patients, their families, and healthcare professionals when it comes to the medical, surgical, and psychological management of the disorder. Based upon neonatal screening studies that detect classic cah, 21hydroxylase. Congenital adrenal hyperplasia can present in childhood, adolescence or adulthood. Congenital adrenal hyperplasia alberta health services. Management of infants with congenital adrenal hyperplasia. This conversion is mediated by 21hydroxylase due to mutations in the cyp21a2 gene. Background congenital adrenal hyperplasia cah due to 21hydroxylase deficiency is one of the most common autosomal recessive disorders. Reflects newer published data and prospects of advances in diagnosis and treatments. The condition is associated with a decrease in the blood level of a hormone called cortisol and an increase in the level of male sex hormones androgens in both sexes. Congenital adrenal hyperplasia treatment algorithm bmj. Males with virilization in childhood and infants of either sex with a saltwasting crisis in the first 4 weeks of life are likely affected with cah.
Some people get a mild condition that produces no symptoms. Congenital adrenal hyperplasia cah is a group of hereditary disorders that affect the adrenal glands. In children with cah, the gene 21hydroxylase that makes the enzyme needed to produce cortisol and aldosterone is not working properly. With treatment, many people find symptom relief and lead healthy lives. Dexamethasone is used as an offlabel early prenatal treatment for the symptoms of cah in female fetuses, but it does not treat the underlying congenital disorder. Management of the adult with congenital adrenal hyperplasia. Ppar a is found in both the cort icotrophs of the anterior pituitary and the adrenal cortex mannelli et al. Congenital adrenal hyperplasia is the name applied to a class of autosomal recessive disorders resulting from deficiency of one of five enzymes necessary for cortisol synthesis by the adrenal cortex. Management of cah requires parents to administer oral steroids, typically hydrocortisone, up to three times daily. The management of congenital adrenal hyperplasia due to 21hydroxylase cyp21 deficiency requires glucocorticoid substitution with oral hydrocortisone given twice or thrice daily. Congenital adrenal hyperplasia american academy of pediatrics. Get a printable copy pdf file of the complete article. Management of congenital adrenal hyperplasia archives of disease. Congenital adrenal hyperplasia due to steroid 21hydroxylase.
Many issues in the management of cah in children still. Cah is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or adrenarche. Glucocorticoid replacement remains the cornerstone of treatment. The enzymes most often affected are 21hydroxylase, 11. In contrast to the course and management of the disease in childhood, little is known about cah in adults. Feb 27, 2015 congenital adrenal hyperplasia cah is an inherited condition in which the adrenal glands become enlarged or overgrow. The purpose of this study was to describe circumstances surrounding adrenal crisis events in children with cah. Newborn screening case management congenital adrenal. Males with virilisation in childhood and infants of either sex with a saltwasting crisis in the first 4 weeks of life are likely to be affected with cah. Girls with cah may have an enlarged part of the female genitals at birth. Congenital adrenal hyperplasia cah due to 21hydroxylase deficiency is an autosomal recessive condition in which deletions or mutations of the cytochrome p450 21hydroxylase gene cause glucocorticoid and often mineralocorticoid deficiency.
Classic congenital adrenal hyperplasia cah is a rare, life threatening, endocrine disorder that affects boys and girls equally. All of these management issues are discussed in more detail in congenital adrenal hyperplasia due to 21hydroxylase deficiency. This is a pdf file of an unedited manuscript that has. Management of adolescents with congenital adrenal hyperplasia.
The first page of the pdf of this article appears above. It has been shown that growth hormone therapy alone or in combination with gonadotrophinreleasing hormone analogue is effective in improving growth rate, height deficit, and final height in children. Rana malek, md2 submitted for publication may 16, 2017 accepted for publication august 15, 2017 from the 1university of maryland medical center, department of medicine, and 2university of maryland school of medicine, department of medicine. Diagnosis and management of the patient with nonclassic cah due. Apr 01, 2020 the term congenital adrenal hyperplasia cah encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Sep 19, 2018 differences between the 2010 and 2018 guidelines. To provide an overview of the congenital adrenal hyperplasias cahs and their management during pregnancy. Classical congenital adrenal hyperplasia cah due to 21hydroxylase deficiency leads to glucocorticoid and mineralocorticoid deficiency.
Approximately 20% of conn syndrome cases are secondary to adrenal hyperplasia. Congenital adrenal hyperplasia childrens hospital of. The diagnosis is confirmed biochemically with elevated 17 hydroxyprogesterone 17ohp and androgens. Management of pregnancy in a patient with nonclassical congenital adrenal hyperplasia ann j. May 02, 2018 congenital adrenal hyperplasia is an inherited genetic condition causing swelling of the adrenal glands.
At the same time they produce too much of male type of hormones, called androgens. There may be an increase in androgens male hormones secreted by the adrenal gland. Management of the child with congenital adrenal hyperplasia. Apr 26, 2010 congenital adrenal hyperplasia cah, most commonly due to 21hydroxylase deficiency 21ohd, has been studied by pediatric endocrinologists for decades. Congenital adrenal hyperplasia cah is a group of genetic disorders caused by enzyme deficiencies in adrenal steroid production. School medical management plan congenital adrenal hyperplasia.
The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. These tumors are located in the rete testis and can lead to impaired blood flow and functional impairment of seminiferous tubules. Congenital adrenal hyperplasia cah is a lifelong condition which requires replacement treatment with hydrocortisone to make up for the loss of cortisol stress hormone and sometimes fludrocortisone for the loss of the salt retaining hormone aldosterone. Advances in the care of these patients have enabled many of these children to reach adulthood. Cortisol and aldosterone are important in salt and water balance in the body and cortisol is involved in the bodys normal response to stress, for example, during an infection. Plasma renin activity in the management of congenital adrenal. Congenital adrenal hyperplasia due to 21hydroxylase deficiency is an autosomal recessive disease of the adrenal cortex caused by mutations in the cyp21a2gene. Congenital adrenal hyperplasia is a genetic disorder. Cah has an incidence in the united states of approximately 1 in 15,000 live births annually speiser et al. Congenital adrenal hyperplasia cah describes a group of genetic disorders affecting your adrenal glands. Congenital adrenal hyperplasia is a family of inborn errors of steroidogenesis, each characterized by a specific enzyme deficiency that impairs cortisol production by the adrenal cortex, and can lead to sexual ambiguity in both genetic males and females.
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