A Member of the University of Maryland Medical System   |   In Partnership with the University of Maryland School of Medicine

Share

Email PageEmail Print PagePrint

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

 

Ask the Expert

Growth and Nutrition Experts’s Bio Image

Get answers to your child's growth, nutrition, and feeding behavior questions.

Growth and Nutrition Experts’s Bio | Q&A Archive

Note: This is for informational purposes only. Doctors cannot provide a diagnosis or individual treatment advice via e-mail. Please consult your physician about your specific health care concerns.

Related Content


 

Ambiguous genitalia - Treatment

Alternative Names

Genitals - ambiguous

Call your health care provider if:

You are concerned about the appearance of your child's external genitalia, or your baby:

  • Takes more than 2 weeks to regain his/her birthweight
  • Is vomiting
  • Looks dehydrated (dry inside of mouth, no tears when crying, less than four wet diapers per 24 hours, eyes look sunken in)
  • Has a decreased appetite
  • Has blue spells
  • Has trouble breathing

Ambiguous genitalia may be discovered during the first well-baby examination.

What to expect at your health care provider's office:

The doctor will perform a physical examination, which may reveal genitals that are not "typical male" or "typical female," but somewhere in between.

The doctor will ask medical history questions to help identify any chromosomal disorders. Questions may include:

  • Is there any family history of miscarriage?
  • Is there any family history of stillbirth?
  • Is there any family history of early death?
  • Have any family members had infants who died in the first few weeks of life or who had ambiguous genitalia?
  • Is there any family history of any of the disorders that cause ambiguous genitalia?
  • What medications did the mother take before or during pregnancy (especially steroids)?
  • What other symptoms are present?

Genetic testing can determine if the child is a genetic male or female. Often a small sample of cells can be scraped from inside the cheeks (this is called a buccal smear). Examining these cells is often enough to determine the genetic sex of the infant. Chromosomal analysis is a more extensive cell study that may be needed in more questionable cases.

Endoscopy, abdominal x-ray, abdominal or pelvic ultrasound, and similar tests may be needed to look at the internal genitals (such as undescended testes).

Laboratory tests may help determine how well the reproductive organs are functioning. This can include tests for 17-ketosteroids.

In some cases, laparoscopy, exploratory laparotomy, or biopsy may be needed to confirm disorders that can cause ambiguous genitalia.

Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia.

Sometimes, the parents must choose whether to raise the child as male or female (regardless of the child's chromosomes). This choice can have a big social and psychological impact on the child, so counseling is usually recommended.

Note: It is often technically easier to treat (and therefore raise) the child as female (it is easier for a surgeon to make female genitalia than it is to make male genitalia), so in some cases this is recommended even if the child is genetically male. However, this is a difficult decision and should be discussed with your family, your doctor, and the surgeon involved.

  • Reviewed last on: 5/1/2011
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Diamond DA. Sexual differentiation: Normal and abnormal. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 128.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 
Adam QualityA.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
Connect with UMMC
Facebook Twitter YouTube Blog iPhone

Please rate the quality of this article.

Do you find this article to be helpful / informative?
              
Poor                                       Excellent

Do you have any brief comments on this page: (up to 255 characters)

© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.866.408.6885