Professional Documents
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I. Introduction
Ambiguous genitalia is a rare condition in which an infant's external genitals don't
appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals
may be incompletely developed or the baby may have characteristics of both sexes. The
external sex organs may not match the internal sex organs or genetic sex. Ambiguous genitalia
isn't a disease, it's a disorder of sex development. Usually, ambiguous genitalia is obvious at
or shortly after birth, and it can be very distressing for families. (Mayo Clinic, 2018)
Sex organs develop with three basic steps. If something goes wrong with this process,
a sexual development disorder (DSD) can happen. DSDs are caused by hormones. Genitals can
develop in ways that aren't normal looking. They can be unclear or "ambiguous." A baby can
have features from both genders. The medical term "intersex" is also used to describe
ambiguous genitals. The sex of a baby can be tested to help parents raise a child. Surgery can
be used to help clarify a baby's gender.Note that DSD's are not the same as transsexualism. A
transsexual is a person who doesn't see themselves as their defined gender. DSD's are
different. They are caused by hormones that change the way a fetus develops. (American
Urological Association, 2015)
Sumber :
- Mayo Clinic. (2018). Ambiguous genitalia - Symptoms and causes. [online] Available at:
https://www.mayoclinic.org/diseases-conditions/ambiguous-genitalia/symptoms-causes/syc-
20369273 [Accessed 27 Jun. 2018].
- American Urological association. (2015). Urology Care Foundation - What is Ambiguous
(Uncertain) Genitalia?. [online] Available at: https://www.urologyhealth.org/urologic-
conditions/ambiguous-(uncertain)-genitalia [Accessed 27 Jun. 2018].
If your family has a history of these risk factors, consider seeking medical advice before
trying to conceive. You may also benefit from genetic counseling. (Mayo Clinic, 2018)
Sumber :
- Mayo Clinic. (2018). Ambiguous genitalia - Symptoms and causes. [online] Available at:
https://www.mayoclinic.org/diseases-conditions/ambiguous-genitalia/symptoms-causes/syc-
20369273 [Accessed 27 Jun. 2018].
Ambiguous genitalia can also be a feature of certain rare, complex syndromes that
affect many organ systems.
2. Female
Causes of ambiguous genitalia in a genetic female may include:
1. Congenital adrenal hyperplasia. Certain forms of this genetic condition cause the
adrenal glands to make excess male hormones (androgens).
2. Prenatal exposure to male hormones. Certain drugs that contain male hormones or
that stimulate production of male hormones in a pregnant woman can cause
developing female genitals to become more masculine. A developing baby also may
be exposed to excess male hormones if the mother has a disease or condition that
causes hormone imbalance.
3. Tumors. Rarely, a tumor in the mother can produce male hormones.
Sumber :
- Houk CP, et al. (2017). Evaluation of the infant with atypical genitalia (disorder of sex
development). [Online] Available At : https://www.uptodate.com/contents/search [Accessed Jun.
27, 2018]
- Houk CP, et al. (2017). Management of the infant with atypical genitalia (disorder of sex
development). [Online] Available At : https://www.uptodate.com/contents/search [Accessed
June. 27, 2018]