Congenital adrenal hyperplasia

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is a group of inherited disorders of the adrenal glands. This condition is characterized by a dominance of male sex hormones called androgens in both females and males in which the adrenal glands aren’t able to produce enough cortisol.  Baby boys are more likely to develop a severe form of the condition that can be life-threatening.

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Types of congenital adrenal hyperplasia

  • Classic – A very severe form of the condition usually detected during infancy or early childhood
  • Non-classic – A milder form that becomes apparent in late childhood or early adulthood


In girls, the classic form of congenital adrenal hyperplasia is easier to diagnose because of genitals that appear abnormal and lean more towards the appearance of male genitals than female. The clitoris may be enlarged.

The condition is more difficult to detect in boys, although some male infants who suffer from the condition ma y have an enlarged penis.


  • Dehydration
  • Ambiguous genitalia in girls
  • Enlarged penis
  • Weight loss
  • Vomiting
  • Collapse

There are two forms of classic congenital andrenal hyperplasia; salt-losing and non-salt-losing. Boys with the salt-losing form may develop the above-mentioned symptoms and boys with the non-salt-losing form may develop early signs of puberty between the ages of 2-4 years, causing increase in body hair and an enlarged penis.


The non-classic form of congenital adrenal hyperplasia is usually diagnosed in later childhood or as a young adult.

Male symptoms

Severe forms may cause the following symptoms in boys:

  • Enlarged penis
  • Height spurt early in life
  • Early development of pubic and armpit hair growth

Female symptoms

  • Light periods
  • Lack of periods
  • Infertility
  • Acne
  • Height spurt
  • Early growth of pubic hair
  • Excess body hair
  • Polycystic ovary syndrome
  • Low bone density
  • Obesity


  • Blood tests
  • Ultrasound of baby girls’ pelvis
  • X-rays of a child’s bones

If both parents are carriers of congenital adrenal hyperplasia, an unborn baby is highly likely of having it as well. Tests are performed to check if the baby is affected.

If you suspect that your child suffers from congenital adrenal hyperplasia, an experienced pediatric urologist should be seen. Dr. Grace Hyun is a board certified urologist who specializes in pediatric urology. If you are in need of a Female Pediatric Urologist Manhattan, Female Pediatric Urologist NYC, Top Pediatric Urologist NYCPediatric Urologist New York, or Pediatric Urologist Manhattan, contact Dr. Grace Hyun.

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