Ambiguous Genitalia in Newborns - Causes, Diagnosis, and Management

Introduction:

Ambiguous genitalia is an uncommon disorder in which the external genitals of an infant do not typically resemble a male or female. An infant suffering from ambiguous genitalia may either have incompletely developed genitals or may resemble the sexual characteristics of both genders. The external sexual organs may be different from the internal sexual organs.

So, ambiguous genitalia is not a disease. It is a sexual developmental disorder. Usually, the condition becomes evident at birth or immediately after birth. The parents of the baby usually become anxious and require counseling for the same. The condition is renamed atypical genitalia.

What Are the Causes of Ambiguous Genitalia?

• Hormonal irregularities in a pregnant woman may lead to ambiguous genitalia by impairing the development of male or female gonadal organs.

• The condition can be caused by a hormonal deficiency in a genetically determined male fetus. On the other hand, exposing the female fetus to male hormones during the prenatal stage may lead to ambiguous genitalia.

• Genetic mutations can also affect sex development in the fetus and lead to ambiguous genitalia.

• Chromosomal genetic aberrations such as a missing chromosomal arm or an extra arm may lead to ambiguous genitalia.

• In some cases, the etiology is unknown.

The leading causes of ambiguous genitalia in a genetically determined female fetus may include the following:

• Excessive Secretion of Androgens - In some conditions, the adrenal glands secrete excessive amounts of androgens (male hormones), leading to congenital adrenal hyperplasia.

• Exposure to Androgens Prenatally - Exposure of the female fetus to male hormones may cause the female genitals to acquire masculine characteristics resulting in ambiguous genitalia.

• Certain Tumors - Sometimes, a tumor present in the mother can stimulate the excessive production of male hormones.

The leading causes of ambiguous genitalia in a genetically determined male fetus may include the following:

• Abnormal Development of Testicles - This may be due to unknown genetic abnormalities.

• Androgen Insensitivity Syndrome - Developing male genital tissues fail to respond to male hormones.

• Failure to Respond to Testosterone Hormone - Sometimes, the male hormones fail to respond to the testosterone hormone resulting in the condition.

• Lack of 5A-Reductase Enzyme- The deficiency of this enzyme affects male hormone production normally.

What Are the Predisposing Factors to Ambiguous Genitalia?

• Family history may result in the development of ambiguous genitalia. Many genetic disorders are inherited.

• Unexplained miscarriages or infant deaths.

• Infertility in females.

• Excessive facial hair in females.

• Abnormal menstrual irregularities or absence of menstruation.

• Impaired physical development during puberty.

What Are the Clinical Features of Ambiguous Genitalia?

• Abnormal penis or vagina present clinically.

• The clitoris is enlarged and resembles a small penis.

• The opening of the urethra may be present at a strange place.

• The labia majora may appear like a male scrotal pouch.

• The testicles remain undescended.

• Hormonal irregularities in the infant.

• Periods can begin at an early age or later in life. Sometimes, they are absent in a female.

How to Diagnose Ambiguous Genitalia?

Ambiguous genitalia is usually present at birth. So, the healthcare personnel who help with the delivery of the baby may observe the condition of the newly born baby.

• Full Medical Examination and Complete Family History - The doctor will determine the family and medical history of the patient. He will do a complete check-up of the genitals of the baby.

• Blood Tests - They should be carried out to determine the hormonal levels. Hematological tests should also be carried out to evaluate the chromosomal abnormalities.

• Genetic Sex Determination - Tests should be carried out to identify the sex of the infant.

• Ultrasound Abdomen and Pelvis - The scan should be done to look for undescended testes or abnormal vagina and uterus.

• X-Rays - A contrast dye should be used to highlight the anatomical features.

• Minimal Biopsy - In rare cases, a sample of the genital tissue is collected for microscopic examination.

What Is the Treatment of Ambiguous Genitalia?

Ambiguous genitalia is an uncommon entity that may require a team of doctors, including a pediatrician, geneticist, neonatologist, urologist, general surgeon, endocrinologist, geneticist, social worker, and psychiatrist.

• Hormonal Drugs - Certain hormonal medications are given to compensate for hormonal irregularities. This therapy is called hormone replacement therapy. In a mild to moderate case of ambiguous female genitalia, the size of the enlarged clitoris usually reduces in size on the administration of the correct dosage of hormones. In other cases, the hormones should be administered at puberty.

• Cosmetic Surgery - The surgery may be required in the affected children to reconstruct genitals that resemble the normal ones. Another objective is to restore the sexual ability of the genital organs. It may also be performed to create a urinary bladder opening if the opening is absent in the baby. The surgery timings vary depending on the child’s condition. Many doctors wait for the baby to be mature enough to participate in their decision to select the gender.

Usually, females with ambiguous genitalia have normally functioning sexual organs, although they appear abnormal. Childhood surgery can be performed in girls if the vagina is hidden under the skin. In boys, reconstructive and cosmetic surgery may be carried out to reconstruct an incomplete penis. This will help to restore the typical appearance of the penis and its function. Erection of the penis may become possible. Sometimes surgery is also done to relocate the undescended testicles into the scrotum. Certain risks are associated with surgery, like failure to achieve orgasm and repeated surgeries in case of failures.

What Are the Complications of Ambiguous Genitalia?

• Male or female infertility.

• Increased susceptibility to specific tumors.

• Recurrent surgeries.

• Social stigma.

• Lack of social esteem.

Conclusion:

Ambiguous genitalia of newborns is an uncommon condition characterized by abnormal development of genital organs. It is a sexual developmental disorder affecting the sexuality of the child. The diagnosis of the condition can be stressful for the family. Sometimes, psychological counseling of the parents is needed. A team of health experts will help to determine the gender and course of treatment of the baby. The main objective is to provide a good quality of life to the child.