Late onset congenital adrenal hyperplasia

Late Onset Congenital Adrenal Hyperplasia
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hirsutism, acne, irregular menstruation
Complications	Infertility, metabolic syndrome
Onset	Adolescence or adulthood
Duration	Long-term
Types	N/A
Causes	Genetic mutation in CYP21A2
Risks	N/A
Diagnosis	Blood test, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Glucocorticoids, mineralocorticoids
Medication	N/A
Prognosis	N/A
Frequency
Deaths	N/A

Late Onset Congenital Adrenal Hyperplasia (LOCAH) is a form of congenital adrenal hyperplasia (CAH) that presents later in life, typically during adolescence or adulthood. It is a genetic disorder affecting the adrenal glands, leading to an overproduction of androgens.

Pathophysiology

LOCAH is primarily caused by mutations in the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. This enzyme is crucial for the synthesis of cortisol and aldosterone. A deficiency in 21-hydroxylase results in the accumulation of 17-hydroxyprogesterone, which is then converted into androgens. The excess androgens lead to the symptoms associated with LOCAH.

Clinical Presentation

The symptoms of LOCAH can vary widely but often include:

• Hirsutism: Excessive hair growth in areas where men typically grow hair.
• Acne: Severe or persistent acne that does not respond to typical treatments.
• Irregular menstruation: Women may experience irregular or absent menstrual periods.
• Infertility: Difficulty in conceiving due to hormonal imbalances.
• Early puberty: In some cases, early onset of puberty may occur.

Diagnosis

Diagnosis of LOCAH involves a combination of clinical evaluation and laboratory testing. Key diagnostic tests include:

• Blood test: Measurement of 17-hydroxyprogesterone levels, which are typically elevated in LOCAH.
• Genetic testing: Identification of mutations in the CYP21A2 gene.
• ACTH stimulation test: To assess adrenal function and confirm the diagnosis.

Treatment

The primary goal of treatment is to manage symptoms and prevent complications. Treatment options include:

• Glucocorticoids: Such as hydrocortisone or prednisone, to reduce androgen production.
• Mineralocorticoids: In cases where aldosterone deficiency is present, fludrocortisone may be prescribed.
• Anti-androgens: Medications like spironolactone may be used to block the effects of androgens.
• Oral contraceptives: To regulate menstrual cycles in women.

Prognosis

With appropriate treatment, individuals with LOCAH can lead normal lives. However, untreated LOCAH can lead to complications such as infertility, metabolic syndrome, and osteoporosis.

Epidemiology

LOCAH is more common than the classic form of CAH, with a higher prevalence in certain populations. The condition is often underdiagnosed due to its mild symptoms and late onset.

See Also

• Congenital adrenal hyperplasia
• Adrenal gland disorders
• Endocrinology

External Links

• Endocrine Society
• National Institute of Child Health and Human Development