Pathologies or Variations?
Some anomalies in sexual development negatively affect the patient’s physical health. One example is congenital adrenal hyperplasia. “It results from an inherited defect of the adrenal glands, which reduces cortisol production while increasing testosterone production,” said Dr. Lala. “In addition to the appearance of male characteristics in females, in more severe forms, it carries the risk of collapse and shock and requires pharmacological treatment.” It is undoubtedly a pathology.
Other variations in sexual characteristics do not affect the patient’s physical health negatively. They may, however, have a psychologic effect, sometimes a significant one, because of the lack of social acceptance of a person who cannot be classified within the binary classification of sexes.
“Conditions in which mixed male and female aspects are clearly evident have been and are still pathologized by the family, the treating physician, and society,” said Dr. Lala. “In the late 1970s, when a child was born with intersexual anatomical characteristics, it was common practice to surgically intervene, making them female, because it was technically easier.”
Over the years, patients who, as they grew up, were dissatisfied with the solution adopted at birth began to make their voices heard, Dr. Lala added. Scientific societies and international organizations have spoken out against subjecting intersexual newborns to surgical interventions that are not medically necessary. “Nowadays, decisions are made on a case-by-case basis, taking into account the families’ wishes. Interventions are justified with medical reasons, which are often very nuanced,” Dr. Lala concluded.
Implications for Sports
Traditionally, athletes participating in competitions in certain sports have been divided into male and female categories to ensure a certain equity and uniformity in performance. Over the years, the emergence of new information about sexual development has made it necessary to update the criteria used in this division.
The main factor responsible for the performance diversity between males and females is the action of testosterone on the male and female organism. “Testosterone has important effects on muscle mass and enhances training results,” said Dr. Moghetti. “As a demonstration of this fact, before puberty, the best performances in athletics or swimming by males and females are similar, then males gain a significant advantage of around 10%-20%.”
A few years ago, the World Athletics Federation conducted widespread screening of athletes participating in its world championships. “It identified a small group of individuals with potentially abnormal testosterone levels for the female sex,” said Dr. Moghetti. “Some were found to be doping, others had genetic defects, and for some, an interpretation was not even possible.”
Some of the individuals had a male genotype but a defect in 5-alpha-reductase, an enzyme essential for the formation of male genitals and hair growth. An athlete with these characteristics, assigned female sex at birth, has a male level of testosterone that stimulates the accumulation of muscle mass, Dr. Moghetti explained. Therefore, the individual has a considerable advantage in performances influenced by this hormone.
“In the end, the Federation decided to set limits on the testosterone levels of athletes participating in certain types of races, especially those in middle distance, that appeared to be more sensitive to differences in hormone levels,” said Dr. Moghetti. “The limitation does not apply to athletes with Morris syndrome, ie, with a male genotype and complete resistance to testosterone, for whom the high level of this hormone does not provide any advantage.” Given the complexity of the problem, he hopes for a case-by-case policy that considers the needs of patients with genetic alterations and those of athletes who have to compete with them.