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Congenital Adrenal Hyperplasia

A congenital adrenal disorder caused by deficiencies of adrenal steroid synthesis enzymes.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia (CAH) is an inherited adrenal disease characterized by deficiency of one of the enzymes synthesizing cortisol or aldosterone in the adrenal gland, resulting in inadequate cortisol production, excessive ACTH stimulation causing adrenal hyperplasia, and androgen overproduction.

90–95% of cases are due to 21-hydroxylase (CYP21A2) deficiency. There are two main phenotypes: classic (salt-losing and simple virilizing) and non-classic (mild, late-onset). Neonatal adrenal crisis is life-threatening in the salt-losing form.

The neonatal screening program with 17-hydroxyprogesterone measurement on heel blood enables early diagnosis. The non-classic form, on the other hand, usually presents in adolescence or adulthood with precocious puberty, hyperandrogenism or infertility.

Symptoms

Adrenal crisis in the newborn in classic salt-losing form: vomiting, dehydration, hypotension
Ambiguous genitalia in female newborns (due to androgen excess)
Signs of precocious puberty in male children
In non-classic form: acne, hirsutism, irregular menses, PCOS-like picture
Short stature (early epiphyseal closure)
Infertility in female patients

Risk Factors

Consanguineous marriage and autosomal recessive inheritance
CYP21A2 gene mutation carriership (1 in 60)
Family history of CAH

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • If the neonatal screening test is positive (urgent evaluation)
  • If genital ambiguity is observed in a female newborn
  • If precocious puberty or excessive androgenic features develop
  • Unexplained hyperandrogenism or infertility in women

Treatment Methods

01
Hydrocortisone: cortisol replacement and ACTH suppression (in children)
02
Fludrocortisone: mineralocorticoid replacement in salt-losing form
03
In adrenal crisis: IV hydrocortisone 100 mg + saline resuscitation (urgent)
04
Maintenance with prednisolone or dexamethasone in adults
05
In non-classic form: treatment based on symptoms (hyperandrogenism, infertility)
06
Stress-dose education and carrying an emergency cortisone kit (patient and family)

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.