What is Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia is a genetic condition that leads to a lack of the enzyme responsible for the final stage in the synthesis of cortisol by the adrenal glands. The result is inadequate production of cortisol and aldosterone and overproduction of androgens.


What is the cause of congenital adrenal hyperplasia?

The cause of congenital adrenal hyperplasia is a mutation in the gene that synthesises the enzyme responsible for the synthesis of cortisol. Depending on the severity of the mutation, the disease may occur at birth (Classic form) or later in young adulthood (Non-Classical form).


If I have the disease, will I pass it on to my child?

Congenital adrenal hyperplasia is inherited by an autosomal recessive pattern of inheritance, which means that for a child to develop the disease he or she must inherit the mutation from both parents. Because the severity of the mutation differs in the two forms of the disease, genetic counselling is essential.


What is the incidence of the disease?

The incidence of the disease is 1 in 15000 births.


What are the symptoms and signs of the disease?

The symptoms and signs of the disease depend on the severity of the mutation and therefore the age of onset of the disease.

  • Ambiguous genitalia
  • Virilization of female infants
  • Nausea, Vomiting
  • Electrolyte Abnormalities
  • Anorexia
  • Weight loss
  • Failure to thrive
  • Precocious puberty
  • Short stature
  • Acne
  • Hirsutism
  • Menstrual abnormalities
  • Infertility

Νεφρά επινεφρίδια - Σύνδρομο Cushing - πρωτοπαθής υπεραλδοστερονισμός - τυχαίωμα επινεφριδίων - Συγγενής υπερπλασία των επινεφριδίων

What are the complications of congenital adrenal hyperplasia?

  • Salt wasting
  • Dehydration
  • Adrenal crisis
  • Hypovolemic shock
  • Death
  • Adrenal tumors
  • Ectopic adrenal tissue in the testes
  • Hypertension
  • Metabolic Syndrome
  • Infertility

How is congenital adrenal hyperplasia diagnosed?

The diagnosis of congenital adrenal hyperplasia is made by a combination of history, clinical examination, hormonal, imaging and genetic testing. Screening for congenital adrenal hyperplasia is included in the neonatal screening programme in several countries. Either positive results in screening, clinical indications or doubtful results are followed by biochemical confirmation which may include specific endocrine tests. Confirmation of the disease is done by genetic testing and mutation detection. Diagnosis may also be made prenatally in specialised centres.


How is congenital adrenal hyperplasia treated?

Depending on the severity of the mutation and the age at diagnosis, treatment aims to prevent adrenal crisis, optimize growth and reproductive function. This is achieved by replacing the insufficient hormones and surgical repair of the external genitalia where necessary. Psychological support and genetic counselling from puberty onwards is also essential. Regular monitoring of patients is vital.