Hermaphroditism – What is it, Causes and Treatments

Hermaphroditism – What it is, Causes and Treatments of this condition that few know. In addition, hermaphroditism is a condition that is still poorly understood, configuring both a morphological and physiological disorder that affects the sexual gonads and/or the genital organs  of an individual, which simultaneously manifests testicular and ovarian tissue structure. It is common to refer to people with this condition as “hermaphrodites”. This term, however, is outdated and, little by little, is falling into disuse. Currently, the most correct name for the condition is “intersex”.

In the first case, the individual has ovaries and testes and the external genital organs with male and female structures. Genetically, most true hermaphrodites have two X chromosomes in each cell – normal males have one X and one Y chromosome and females two X. Therefore, they should be female. The development of the testes is due to changes in still unknown genes that act as the SRY gene on the Y chromosome, responsible for the formation of the testes.

In the second, the individual is a male (XY) from a genetic point of view, but the penis does not fully develop. These are men who are not completely virilized, due to gaps in embryonic sexual development. In the third case, the reverse occurs. Women have two X chromosomes and have a complete female reproductive system, but during the intrauterine phase they undergo a process of virilization of the genitals : the clitoris grows excessively and presents itself as a penis-like structure.

Causes of Hermaphroditism: The causes of human hermaphroditism are not yet fully understood, but it is believed that the egg may have been fertilized by 2 different sperm or that there have been important genetic changes during the baby’s development.

One of the possible causes for Hermaphroditism is genetics. Mutations in the CYP21A2 gene (which is found on the short arm of chromosome 6) result in the deficiency of an enzyme, 21-hydroxylase. The name of the disease resulting from this deficiency is congenital adrenal hyperplasia (HCSR), which occurs in 1 in 17,000 births, according to the Brazilian Society of Neonatal Screening.

Certain forms of this disease put a child at 7 to 14 days of age at risk of death, as there is salt loss and severe and rapid dehydration, which, if not treated urgently, can lead to death. The shortage of the 21-hydroxylase enzyme prevents the synthesis of the hormone cortisol, produced in the adrenal glands. In a chain reaction, the lack of this hormone triggers a gland at the base of the brain, the pituitary gland, which intensifies the production of another hormone , the corticotrophic pituitary, which stimulates adrenal activity.

In response to this stimulus, the adrenals increase in size and produce more of the male hormone, testosterone. In female fetuses, excess of this hormone causes virilization: women are born with a hypertrophied clitoris, resembling a penis, and a scrotum without testicles, which completely covers the vagina. There are also non-genetic causes. When a woman, unaware that she is pregnant, takes hormones, these substances can contribute to the virilization of the female fetus.

Symptoms of Hermaphroditism: Hermaphrodites have both ovarian and testicular tissue. The external genitals are ambiguous and have components of both sexes. Hermaphroditic people can look both female and male.

Treatment of Hermaphroditism: The treatment of Hermaphroditism is done with corticosteroid hormones. But you have to take hormones for the rest of your life, because it’s an enzymatic defect. And couples who have a child with this problem should undergo genetic counseling before planning future pregnancies, as the risk of recurrence is 25% with each new pregnancy,” explains Raskin. The range of treatments also includes surgical interventions, decided on a case-by-case basis and, of course, psychological support.

Nowadays, the view of treatment of these patients has changed a lot. True medical errors were committed 30 years ago, it was a phase in which pediatric surgeons performed aggressive corrective surgeries without listening to the parents’ opinion and without a multidisciplinary team to advise the decision, says geneticist Gerson Carakushansky, professor at the Faculty of Medicine of Federal University of Rio de Janeiro.

“Currently, cases have to be followed up by teams with professionals from different areas, without too much haste, because the patient himself must give his opinion on the operation. Only the part that impairs the child’s function is corrected, for example when urinating. The definitive ones are for later, always with psychologists supporting the child and the parents.”

Note: Hermaphroditism is the eighth rarest disease in the world, and it is estimated that there are only about 500 cases worldwide, so it is a disease still unknown to many.

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