Ambigous Genitalia And Risk Factor

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].

II. Risk factors

Family history may play a role in the development of ambiguous genitalia, because many
disorders of sex development result from genetic abnormalities that can be inherited.
Possible risk factors for ambiguous genitalia include a family history of:

1. Unexplained deaths in early infancy

2. Infertility, absent menstrual periods or excess facial hair in females
3. Genital abnormalities
4. Abnormal physical development during puberty
5. Congenital adrenal hyperplasia, a group of inherited genetic disorders that affect the
adrenal glands

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].

III. Possible Causes

1. Male
Causes of ambiguous genitalia in a genetic male may include:
a. Impaired testicle development. This may be due to genetic abnormalities or unknown
causes.
b. Androgen insensitivity syndrome. In this condition, developing genital tissues don't
respond normally to male hormones made by the testes.
c. Abnormalities with testes or testosterone. Various abnormalities can interfere with
the testes' activity. This may include structural problems with the testes, problems
with production of the male hormone testosterone or problems with cellular
receptors that respond to testosterone.
d. 5a-reductase deficiency. This enzyme defect impairs normal male hormone
production.

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]