Genital ambiguity or intersex should be treated early
Doubts about the baby's sex, which are already distressing for parents-to-be, are even more so in cases of a diagnosis of Genital Ambiguity. Considered a rare disease, genital ambiguity is a congenital defect that makes it difficult or impossible for the medical team to identify the baby's sex on a first clinical examination. The incidence indicated in recent scientific studies is one case per 2,500 to 4,000 live births. The problem, which is still surrounded by many taboos surrounding any subject related to sexuality, is also known as gender differentiation disorder. "The disease should be detected and treated as soon as possible. Appropriate evaluation and intervention for each case can prevent the patient from being raised in an inappropriate gender, which could affect their health in the biological, psychological and social spheres," warns Bahian pediatric urologist Ubirajara Barroso, who is the surgical coordinator of the Center for Disorders of Sexual Development (DDS) at the Federal University of Bahia (UFBA).
The genetic sex of a child is determined at the moment of conception. The mother's egg cell (female sex cell) contains an X chromosome, while the father's sperm cell (male sex cell) can contain an X chromosome or a Y chromosome. It is these chromosomes - X or Y - that determine the genetic sex of the child. Therefore, it is the father's chromosome that "defines" the child's genetic sex. In theory, a baby who inherits the X chromosome from its father is genetically female (two X chromosomes), while if the baby inherits the Y chromosome it is genetically male (one X chromosome and one Y chromosome). "Ambiguous genitalia make it difficult to classify a baby's sex as male or female. In very rare cases, the physical appearance can be completely opposite to the genetic sex. For example, a genetic male can develop a normal female appearance," adds the expert.
Ambiguous genitalia can be discovered in the first tests carried out during pregnancy. Genetic tests can determine whether the child is genetically male or female. Depending on the cause, conditions associated with ambiguous genitalia can be treated with procedures such as hormone replacement therapy, complementary treatments or surgery. In addition to genetic issues, the use of testosterone during pregnancy may be associated with the problem.
In genetically female children, some characteristics may be indicative of the disease, such as an enlarged clitoris that has the appearance of a small penis, the opening of the urethra (the channel through which urine exits) located anywhere along, above or below the surface of the clitoris, and the genital lips may be fused. In some cases, a mass of tissue is felt inside the fused labia, making them look like a scrotum with testicles.
In a genetically male child, ambiguous genitalia usually have the following characteristics: small penis (less than 2 or 3 centimeters) that resembles an enlarged clitoris, urethral opening located anywhere along, above or below the penis, small scrotum with some degree of separation, resembling genital lips, often associated with undescended testicles. "Due to the potential social and psychological effects of this condition, parents should decide whether to raise their child as a male or female as soon as possible after the diagnosis is made, preferably within the first few days of the newborn's life," warns Barroso, adding that, due to the complexity of gender issues, the ideal treatment involves a multidisciplinary team made up of a urologist, physiotherapist and psychologists.