INTERSEX. A BETTER UNDERSTANDING FOR DEMYSTIFICATION
Definition
Intersex, as many like to call it, or alterations of sexual development, a more technical term, would be a condition in which a child is born with some gonadal, chromosomal or genital characteristics that do not conform to each other. They are usually born with genital ambiguity. This is characterized by a genitalia in which there are typical aspects of the male and female genitalia. Some examples of intersex:
1) Presence of XY chromosome (typical male) and a vagina or XX chromosome and a penis;
2) Genital ambiguity;
3) Presence of XY chromosome and ovary or XX chromosome and testicle;
4) Presence of ovaries and masculinized genitalia or testicles and feminized genitalia. All of these situations cause a great deal of stress for the family, since society in general places gender as a central issue when a child is born and thereafter.
The first welcome
When a child is born with suspected intersex, experienced professionals should be consulted and civil registration delayed until a medical assessment has been carried out. The neonatologist will be the first to detect the genital alteration. Prenatal ultrasound can give clues. From there, a group made up of a geneticist, endocrinologist, psychologist and urologist should assess the baby and welcome the family. Parents should be comforted, informed about the problem and given guidance on therapeutic possibilities
The Stigma
Children born with intersex are commonly stigmatized and often called hermaphrodites, a pejorative term that should be abolished. This situation can drive the family to despair, to the point of family breakdown and rejection of the child. In the long term, many tend to "hide" socially, making it difficult for the patient to join the therapeutic group. There is an urgent need to demystify intersex in society in order to minimize the suffering of patients and their families.
Clinical aspects
The characteristic of a child born with intersex is genital ambiguity. This is perceived as a lack of definition of the child's external genitalia, which can take on more masculine or more feminine characteristics. The presence of testicles already characterizes the child as having the Y chromosome. However, apparently normal genitalia does not exclude the possibility of intersex. For example, a penis can be seen in cases of congenital adrenal hyperplasia 46XX. In this situation there are no palpable gonads. Other examples are cases of complete androgen insensitivity 46XY, or pure gonadal dysgenesis, where there is a Y chromosome and the external genitalia is a vagina.
In other words, genital appearance doesn't always match the chromosomal sex and type of gonads. There is one type of problem that can be life-threatening. Congenital adrenal hyperplasia, the salt-losing type, can cause the baby to die from dehydration and hydroelectrolyte imbalance. The heel prick test has diagnosed this problem early and reduced the risk.
People with intra-abdominal gonads, especially in cases of gonadal dysgenesis, have an increased risk of cancer such as seminoma or gonadoblastoma. In cases of XY individuals raised as girls, either in androgen insensitivity or gonadal dysgenesis, the gonads will need to be removed at some point.
How are the genitals formed?
A baby is conceived by the union of the (maternal) egg, which carries the X chromosome, with the (paternal) sperm, which can have the X or Y chromosome. Therefore, from this union, it will be determined whether the fetus will have chromosome XX (typical of females) or XY (typical of males).
The Y chromosome produces the testicular determining factor. This will cause the testicle to develop. When there is no testicular determining factor, the ovary is formed.
The formation of the testicle or ovary will be essential for the development of the reproductive organs and external genitalia. The testicle has Leydig and Sertoli cells. The latter produce the anti-Mullerian hormone. The Mullerian structures are those that cause the fallopian tubes, the uterus and the upper 2/3 of the vagina to develop. Therefore, if Sertoli cells are present and functioning, internal female reproductive structures do not develop.
Leydig cells produce testosternone. This hormone stimulates the formation of the Wolfian structures, i.e. the epididymis, ductus deferens and seminal vesicles. Therefore, if there are functioning Leydig cells, the male reproductive structures will develop.
Testosterone is also transformed by 5-alpha-reductase into dihydrotestosterone, which in turn causes the male genitalia to develop. The body's cells need to be sensitive to these hormones for them to have the expected effect.
We can have various types of alterations in sexual development.
46XX: the main ones are congenital adrenal hyperplasia, pregnant women who use male hormones and tumors that produce male hormones during pregnancy. In congenital adrenal hyperplasia, the main cause is a deficiency of 21-hydroxylase, an adrenal enzyme that converts cholesterol into aldosterone and cortisol. In this case, the accumulated cholesterol is transformed primarily into androgens, which causes the fetus to have male characteristics in different ways.
46XY: tissue insensitivity to the hormone testosterone, 5-alpha-reductase deficiency and gonadal dysgenesis are the main causes. If there is no tissue sensitivity to testosterone, even when there are testicles, the entire physical appearance (phenotype), including the genitals, becomes feminine. 5-alpha-reductase transforms testosterone into dihydrotestosterone, which is responsible for the formation of male genitalia. Therefore, when there is a lack of this enzyme, the male genitalia do not form properly. In pure gonadal dysgenesis, there is no production of testosterone and antimullerian hormone. Therefore, the external genitalia are female and so are the internal organs.
Ovotestis: there are situations where there is an ovary and a testicle in the same person. The genitalia are usually ambiguous and the person can have male internal organs, a fallopian tube and a uterus or be born with both.
Risk factors
A family history can influence the appearance of genital ambiguity, for example:
- Unexplained deaths in childhood
- Infertility, absence of menstruation, early puberty, excessive facial hair in women.
- Genital abnormalities
- Congenital adrenal hyperplasia
Initial assessment
Children with intersex need to be assessed by a specialized group. At the Federal University of Bahia we have a specialized clinic with urologists, geneticists, endocrinologists and a psychologist. The person is assessed from a clinical and laboratory point of view, with imaging tests and, above all, welcomed with respect and dignity.
Evaluation of the karyotype is important for defining the type of chromosome. Laboratory tests such as electrolyte dosages, antimullerian hormone
hormone, 17 hydroxyprogesterone, testosterone and others are important in defining the diagnosis. A pelvic ultrasound is commonly requested.
The consultation will discuss the diagnosis, the causes, the risk of recurrence in the offspring, as well as aspects of gender identity and fertility. Once all this has been done, the child will be registered with a gender of creation. Countries such as Australia and Germany allow a third gender to be chosen, which is not permitted under Brazilian law.
An important aspect in choosing the gender of upbringing is gender identity, which is how a person sees themselves, whether as male or female. In the past, doctors used to suggest an "optimal gender" of upbringing. Today we know
that there is a great risk of misunderstanding gender identity when this method is used. Currently, a humanized approach is used, which respects the family's understanding and decision regarding the gender of creation. The family should be explained all the possibilities and be aware of the existing literature regarding the types of intersex, as well as the fertility potential of each condition.
It is now known that fetal and post-natal testosterone impregnation in the brain "masculinizes" the brain, so that children and adults, even if they are raised as girls, tend to express themselves in more typically male behavior. If this impregnation is too intense, gender identity can be masculine despite being raised female.
For example, in congenital adrenal hyperplasia, the most frequently encountered situation, when discovered early on, gender identity is usually female. As there is potential for fertility in the future, since there is a uterus, fallopian tubes and ovaries, these patients are usually raised as females. There are situations where we come across males with congenital adrenal hyperplasia 46XX, who are only diagnosed after the age of 2. In these cases, the gender should be kept as male due to the high risk of gender non-conformity in the future.
In cases of complete androgen insensitivity or pure gonadal dysgenesis, due to the inaction of testosterone, there is no brain impregnation by this hormone. Therefore, gender expression and identity will be typically feminine.
In cases of 5-alpha-reductase deficiency, cloacal extrophy or penile agenesis, children should be registered as male as they will most likely identify with this gender in the future.
Treatment and medication
Treatment has several objectives:
1) Give comfort and psychological support to the child and family.
2) Treating hormonal changes with medication, either to reduce overproduction or to replace any missing hormones.
hormone that is lacking.
3) Correction of the external genitalia. This will be a family decision with guidance from the pediatric urologist. There are cases in which we can wait for the patient to define in the future how they want their genitalia.
Genital surgery
Feminization surgery consists of clitoroplasty, vaginoplasty and labioplasty, all in one go. The glans becomes a clitoris, the vagina is extracted from deeper portions of the perineum and the labia minora and majora are made from the foreskin and labioscrotal eminences. With technical progress and anatomical knowledge, it is possible to achieve a good surgical result, while preserving the sensitivity of the organ. When there is no vagina, it can be constructed using intestinal tissue or grafts.
Intersex in society
The concept of gender is very ingrained in today's society. To give you an idea, the question most often asked of parents expecting a baby is whether it's a boy or a girl. As a result, certain behaviors and expressions adopted are expected to be typical of the gender the person was brought up with. When a boy picks up a doll to play with, this behavior is often reprimanded by his parents. This reinforces dichotomous gender behavioral stigmas. This is not to say that there is nothing biological about the difference between the sexes. On the contrary, there is strong evidence that testosterone has a masculinizing effect on the brain. It is impossible to say at the moment what role social and biological construction plays in gender identity.
What is certain is that we must respect those who don't fit into the gender dichotomy, as is the case with many intersex patients. They often don't feel like men or women. Otherwise, they may feel like both genders or even something different that they can't explain. Because they feel different and for fear of social pressure, they hide, don't reveal themselves and suffer in secret. Parents and doctors often reinforce this feeling when they hide what is happening from their child. If there is stigmatization at home, it will be difficult to change society. There must be a permanent channel of communication between health professionals, parents and children and a daily struggle for society to respect differences.