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 the male 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. From this, a series of events initiate the development of the characteristic male and female gonads. The disruption of this process can result in the formation of 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.
This condition is known as male pseudohermaphroditism.
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 male 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.
This condition is known as female pseudohemaphroditism.
Normal internal sex organs may allow some children with ambiguous genitalia to lead a fertile reproductive life. However, others may be infertile or find it difficult conceiving a child. There is also an increased risk of developing tumours in the gonads. Apart from the clinical consequences, children with ambiguous genitalia face psychological problems as they grow up. They may find it difficult to accept their condition, but with the help of understanding parents and a good social support system they can lead fulfilled and happy lives.
Characteristics of ambiguous genitalia in a genetic male include hypospadias, where the urethral opening of the penis is at or on the under surface, near the scrotum, a very small penis (micro penis), no penis, or undescended or absent testes in the scrotum.
In genetic females, there may be an enlarged clitoris resembling a small penis, urethral opening lies above, below or along the clitoris, fused labia to resemble a scrotum, lump of tissue resembling scrotum with testis, or a concealed vagina.
The stages of ambiguous genitalia can be classified according to the Prader scale:
- Stage 0: Normal female genital organs
- Stage 1: Mild enlargement in clitoris and smaller vaginal opening, usually within normal range
- Stage 2: Intermediate penis, small vaginal opening, separate urethral opening and posterior fusion of the labia
- Stage 3: Penis larger in size than in stage 2, common urine and genital opening and complete fusion of labia
- Stage 4: Appearance of normal-sized, penis though more attached to the surrounding tissue, empty scrotum, small vaginal/urethral opening at the base of the penis, which leads internally into the vagina and uterus.
- Stage 5: Normal appearing penis with the urethral opening near or at the tip, empty scrotum, with internal organs including normal uterus and ovaries
- Stage 6: Normal male genital organs
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 ordered to determine whether your child is genetically male or female. X-rays, ultrasound and endoscopy may also be ordered to identify abnormalities in internal genital organs. Various laboratory tests help determine if the reproductive organs are functioning well. An exploratory laparoscopy or biopsy may also be required to confirm the diagnosis.
Untreated ambiguous genitalia can cause confusion of gender identity in the child either because of an uncorrected biological condition or hesitancy on the parent's part to decide if they would like to raise the child as a boy or girl. This can lead to depression or in severe cases even suicide.
Treatment depends on the cause and severity of the condition and can involve psychological counselling, hormone replacement therapy, and surgical correction of the external genitalia, such as reduction of clitoris or creation of a vagina. The primary decision regarding sex assignment should be based on the appearance of external genitalia.
- If the penis is inadequately formed, the child should be raised as female and the anatomy should be corrected surgically.
- If the penis is adequate and reconstructable, and the child has a Y chromosome, the child should be raised as a male.
- If the child is diagnosed as a true hermaphrodite, having well developed male and female genitalia, the sex assignment can be done based on the function of the internal sex organs.
In certain cases, children with ambiguous genitalia have normal reproductive function if they have normal internal reproductive organs. Others may experience difficulty conceiving or infertility. Still others may be prone to developing cancer of the sex organs. However, with proper treatment and counselling most individuals are able to lead normal lives.
There is extensive research being done on treatment of ambiguous genitalia and includes:
- C, Sultan; F, Paris, Jeandel C, Lumbroso S, Galifer RB. Ambiguous genitalia in the newborn. Semin Reprod Med. 2002 Aug;20(3):181-8.
- D, Zdravkovic; T, Milenkovic, Sedlecki K, Guc-Scekic M, Rajic V, Banicevic M. [Causes of ambiguous external genitalia in neonates]. Srp Arh Celok Lek. 2001 Mar-Apr;129(3-4):57-60.