Ambiguous Genitalia

Anne Reynolds, Tessa Coan, and Joshua Werema

What is Ambiguous Genitalia?

Ambiguous Genitalia is diagnosed at birth or in the weeks following. It is the deformity of the external genitalia. Doctors have difficulty differentiating between the male and female sex organs. Usually this is caused by a hormone imbalance in the body.

Ambiguous Genitalia in Genetic Females

Enlarged clitoris looks like a small penis Urethral opening can be along, above, or

below surface of the clitoris Labia may look like a scrotum Infant may be thought to be a male with

testicles that have not descended Lump of tissue may be felt in the labia,

making it look like a scrotum with testicles

Ambiguous Genitalia in Genetic Males

Small penis that looks like an enlarged clitoris

Urethral opening may be along, above, or below the penis Can be as low as on the peritoneum,

making the infant appear to be female Possibly a small scrotum that is

separated, looks like labia. Testicles that are not descended are a

common occurrence

What does it look like?

General Causes

Ambiguous Genitalia often occurs along with a DSD or Disorders of Sex Development

Lack of male hormones in a genetic male fetus

Exposure to male hormones in a genetic female fetus

Possible Causes for Males

Impaired Testicle Development Congenital Adrenal Hyperplasia (CAH)

Can impair production of male hormones Androgen Insensitivity Syndrome

Developing genital tissues don't respond normally to male hormones

Abnormalities with Testes or Testosterone 5-Alpha-Reductase Deficiency.

Enzyme defect that impairs normal male hormone production.

Prenatal Exposure to Substances with Female Hormone Activity Example: Birth Control

Possible Causes for Females

Congenital adrenal hyperplasia (CAH) Can cause the adrenal glands to make excess male

hormones. CAH-most common cause of DSD

Prenatal Exposure to Substances with Male Hormone Activity Example: Anabolic Steroids

Tumors Rare, but a tumor may produce male hormones

Treatments

Things doctors must keep in mind:Be careful about psychological

health of the patientTreatment time varies based on the

patient’s situationSexual function and fertility must be

preserved

Treatments: Medication

Medications: Hormone Therapy

Depends on severity of disease

Usually coupled with other treatments to be most effective

Can be enough to correct initial hormone imbalance

Treatments: Surgery

Cosmetic Surgery Can be done to restore sexual function

or give a more natural appearance Usually postponed until patient can

make decision about sexual assignment Results are often satisfying Repeated surgeries may be needed later

Statistics

Congenital Adrenal Hyperplasia (a common cause of Ambiguous Genitalia) occurs in 1 of every 13,000 births

1 in every 100 people’s bodies differ from the standard male or female

1 to 2 in 1000 births have surgery to normalize genital appearance

Citations

Julius Xavier Scott. (2004). Smith-Lemli-Opitz Syndrome. In Indian Pediatrics. Retrieved February 21, 2012, from http://indianpediatrics.net/may2004/may-512.htm.

A.D.A.M. (May 1, 2011). Ambiguous Genitalia. In The New York Times Health Guide. Retrieved February 21, 2012, from http://health.nytimes.com/health/guides/symptoms/ambiguous-genitalia/overview.html.

“Ambiguous Genitalia”. (2007) Medical Dictionary - The Free Dictionary. Retrieved February 22, 2012. From http://medical-dictionary.thefreedictionary.com/Ambiguous+Genitalia

Mayo Clinic Staff. (January 29, 2010). Ambiguous Genitalia. In Mayo Clinic. Retrieved February 22, 2012, from http://www.mayoclinic.com/health/ambiguous-genitalia/DS00668/DSECTION=causes.

Mayo Clinic Staff. (January 29, 2010). Treatments and Drugs . In Mayo Clinic. Retrieved Febrary 21, 2012, from http://www.mayoclinic.com/health/ambiguous-genitalia/DS00668/DSECTION=treatments-and-drugs.

Anne Fausto-Sterling. (1998). How common is intersex?. In Intersex Society of North America. Retrieved Febrary 22, 2012, from http://www.isna.org/faq/frequency.

A.D.A.M.. (May 1, 2011). Ambiguous Genitalia. From Medline Plus. Retrieved February 24, 2012. http://www.nlm.nih.gov/medlineplus/ency/article/003269.htm