Ambiguous Genitalia

What does 'Ambiguous Genitalia' mean?

Ambiguous genitalia can be defined as a condition where the external sex organs cannot be clearly distinguished as male or female.

The external sex organs of males involve the scrotum, testes and penis, and in females, the labia, clitoris, urethral opening, and vaginal opening. Male and female sex organs develop from the same embryonic tissue. In utero, a series of events initiate the development of the characteristic male and female sex organs. The disruption of this process can result in the formation of ambiguous genitalia.

What Causes Ambiguous Genitalia ?

Ambiguous genitalia can occur as a result of abnormal levels of the hormone testosterone at the foetal stage. A genetic male may develop female-appearing external sex organs and undescended testes if:

  • There is an inadequate amount of androgen (male sex hormone).
  • The body tissues do not respond to the action of androgen.
  • There are high levels of exposure to oestrogen (female sex hormone).
  • There are chromosomal abnormalities.

A genetic female may develop male-appearing sex organs when exposed to high levels of male hormones as can occur in certain conditions such as:

  • Congenital adrenal hyperplasia, where enlarged adrenal glands produce excess androgens (male sex hormones).
  • Excessive exposure to male hormones prenatally through certain diseases, medications taken during pregnancy or hormonal imbalance in the mother.
  • A tumour in the mother that produces male hormones.

How are conditions involving ambiguous genitalia diagnosed and investigated?

To aid in the diagnosis of ambiguous genitalia, your child's doctor will review your medical and family history, and perform a thorough physical examination. Genetic testing may be requested. Imaging and endoscopy may also be performed. Various laboratory tests help can determine if the reproductive organs are functioning well. An exploratory laparoscopy or biopsy may also be required to confirm the diagnosis.



Treatment options in conditions with ambiguous genitalia

Treatment depends on the cause and severity of the condition. It is important to talk to your doctor about what different treatment options entail, and supports that are available for children and families.