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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
