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Ambiguous Genitalia

Overview

Ambiguous genitalia is a rare condition in which the genital organs of your newborn baby are difficult to be distinguished as either male or female. It is also known as intersex genitals. In this condition, the genital organs of the baby may not coincide completely with the inner sex organs or genetic sex determined by XX or XY chromosomes. Ambiguous genitalia is not a disease itself and does not cause any physiological harm, but it can be a cause of distress for the new parents. Your doctor will provide necessary treatment options and counseling to help with this condition. 

Causes

The sex of a baby is determined at the time of conception. A baby with XY chromosomes is a genetic male, and a baby with XX chromosomes is a genetic female. These chromosomes trigger the development of particular sex organs. If there is a disruption during the time period when sex is determined, it can cause differences in the appearance of the external sex organs as opposed to the genital sex. Multiple factors may play a role in the development of ambiguous genitalia. Mutations during chromosome development can cause changes in external genital development. Irregular hormone levels in a developing fetus can also influence the appearance of external sex organs. Some babies may be born with a missing or an extra sex chromosome, which can cause this condition. In many cases, ambiguous genitalia may occur without a known cause. 

Risk Factors And Epidemiology

The risk of ambiguous genitalia is higher in those who have a positive family history of genetic abnormalities that cause sex disorders. The risk is increased if you have a family history of known genetic sex disorders, unexplained deaths during infancy, absence of menstrual cycle, infertility, females having excessive facial hair, abnormal development during puberty, and congenital adrenal hyperplasia. The last case is a genetic disease affecting a person’s adrenal glands. In the presence of any of these risk factors, counseling is required before you attempt to conceive.

 

The incidence of a child being born with ambiguous genitalia is approximately 1 in 4500. It can vary in different parts of the world, but it is estimated that 1% of all newborns have some degree of ambiguous genitalia. 

Signs And Symptoms

The appearance of external genital organs in babies with ambiguous genitalia can vary depending on the severity of their condition. In genetically female babies, the clitoris appears enlarged, which may resemble a penis. Closed labia are present that can mimic the appearance of the scrotum, and lumps can be present in these labia that resemble testes. In genetically male babies, the urethra may not fully extend to the tip of the penis. These babies also present with a very small penis and the absence of one or both testicles. Undescended may occur with an empty scrotum that resembles the appearance of labia. These changes may cause hormonal imbalance in genetically male or female babies. 

Diagnosis

Ambiguous genitalia can be diagnosed at birth by your doctor. In rare cases, it may get diagnosed during pregnancy. It is important to mention if you have a family history of genetic sex disorders or other relevant medical issues. To determine the gender of the baby, your doctor will order some tests to acquire the necessary information. These tests will include blood tests to determine the genetic sex of the baby through chromosomes, blood tests to evaluate hormone levels, X-ray study to understand anatomy, and ultrasound to look for missing genital organs. It may take some time before the genetic sex of the baby is determined, so the parents and family need to be counseled during this period. 

Differential Diagnosis

Ambiguous genitalia can present as four different forms, which need to be differentiated on the basis of their characteristics. These include female pseudohermaphrodite, male pseudohermaphrodite, mixed gonadal genesis, and true hermaphrodite. True hermaphrodites have not been seen in humans yet because it means that a baby has both male and female sex organs. 

Treatment

Treatment of ambiguous genitalia depends on the cause and the specific condition of your baby. Because it is a rare condition, it can require a team of specialized doctors to form a treatment plan for the baby. Once the genetic sex of your baby has been determined, efforts will be made accordingly to maintain fertility, hormonal levels, and the development of genital organs. Your doctor may prescribe medications that can aid in managing irregular hormonal levels in some cases. If medications are not an option, surgery can be considered. The purpose of surgery is to create genitals that match the genetic sex and preserve their sexual function. The timing and risks of surgery will be mentioned by your doctor. Therapy and counseling are also provided to both the parents and the child as they grow. 

Prognosis

It can be difficult if your child gets diagnosed with ambiguous genitalia at infancy. Although it is not a life-threatening condition, it can cause considerable distress to the child regarding their gender as they grow. Therapy, counseling, medication, or reconstructive surgery can help cope with the disease and its complications. 

Prevention

Since ambiguous genitalia can occur without any known cause in certain cases, it is difficult to prevent it. Diagnosis is determined at or after birth. If your child is born out of hospital care and appears to have ambiguous genitalia, contact your doctor to receive proper counseling and instructions regarding this condition.