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Signs and Symptoms of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is a group of inherited disorders of the adrenal glands. The enzymes mediating the production of cortisol from cholesterol are mutated, resulting in either a deficient or excessive production of sex hormones. This results in low levels of cortisol and high levels of androgen. Congenital adrenal hyperplasia affects both boys and girls.

It is a genetic disorder in which the fetus receives an over-supply of androgen, resulting in masculine characteristics in baby girls, specifically an enlarged clitoris that resembles a penis. Boys do not show obvious symptoms at birth, but they may enter puberty as early as 2 – 3 years of age. We have put together a list of the common signs and symptoms of congenital adrenal hyperplasia below.

The Common Signs and Symptoms of Congenital Adrenal Hyperplasia are:

The signs and symptoms of congenital adrenal hyperplasia vary with the gender of the patient. In girls, the symptoms are:

  • Ambiguous female genitalia that appear more male than female
  • A deep voice
  • Early appearance of pubic hair
  • Early appearance of armpit hair
  • Excessive facial hair
  • Irregular periods
  • Failure to menstruate
  • Infertility

In boys, the common signs and symptoms of congenital adrenal hyperplasia are:

  • Enlarged penis
  • Small testes
  • Ealy appearance of pubic hair
  • Early appearance of armpit hair
  • A deep voice
  • Well-developed muscles

In both boys and girls, the common signs and symptoms of congenital adrenal hyperplasia include:

  • Rapid growth during childhood, but shorter than average height as an adult
  • Severe acne
  • Low bone density
  • Obesity


Diagnosis of Congenital Adrenal Hyperplasia

Genetic tests can help to diagnose, manage and treat congenital adrenal hyperplasia. Currently, every child born in the US and in over 40 countries is screened at birth for congenital adrenal hyperplasia. Newborns detected early enough are placed on steroid medication to replace deficient hormones, and can live a relatively normal life.


Books For People With Signs and Symptoms of Congenital Adrenal Hyperplasia

CONGENITAL ADRENAL HYPERPLASIA: A Parents’ Guide
C. Y. Hsu
Congenital Adrenal Hyperplasia
John Hewitt M.A


Increased risk of low BMD in congenital adrenal hyperplasia.(Metabolic Disorders)(bone mineral density): An article from: Family Practice News
Miriam E. Tucker
The recalled childhood gender questionnaire-revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia.: An article from: The Journal of Sex Research
Heino F.L. Meyer-Bahlburg

Congenital Adrenal Hyperplasia Resources

General Patient Resources

  • Congenital Adrenal Hyperplasia

An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.

http://www.congenitaladrenalhyperplasia.org/

  • National Institute of Child Health and Human Development

The Eunice Kennedy Shriver Foundation

http://www.nichd.nih.gov/health/topics/Congenital_Adrenal_Hyperplasia.cfm

  • Health Scout

Symptoms, Treatment and Prevention of Congenital Adrenal Hyperplasia … Definition of Congenital Adrenal Hyperplasia; Description of Congenital Adrenal Hyperplasia

http://www.healthscout.com/ency/68/670/main.html

  • CARES Foundation

Congenital Adrenal Hyperplasia Research Education & Support (CARES) Foundation – Cares Foundation leads the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research.

http://www.caresfoundation.org/productcart/pc/index.html

  • National Adrenal Diseases Foundation

General information about Congenital Adrenal Hyperplasia (CAH), a disease affecting the adrenal glands.

http://www.nadf.us/diseases/cah.htm

  • Right Diagnosis

Congenital adrenal hyperplasia information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.

http://www.rightdiagnosis.com/c/congenital_adrenal_hyperplasia/intro.htm

  • Living With CAH Support Group

An education and support network for people and families with Congenital Adrenal Hyperplasia.

http://www.livingwithcah.com/



Medical Resources

  • Mayo Clinic

Comprehensive overview covers symptoms, causes, treatment of this adrenal gland disorder.

http://www.mayoclinic.com/print/congenital-adrenal-hyperplasia/DS00915/METHOD=print&DSECTION=all

  • Medline Plus

A service of the US National Library of Medicine.

http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

  • Pub Med Health

Reviews causes, symptoms, incidence, treatment, risk factors, treatment, prognosis and complications.

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001448/