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A project to broaden the understanding about sexual development disorders

by Richard Meckien - published Apr 25, 2017 02:55 PM - - last modified Jun 04, 2019 10:57 AM
Rights: Original version in Portuguese by Mauro Bellesa.

Berenice Bilharinho de Mendonça
Berenice Bilharinho de Mendonça

Genital malformation is a congenital condition that affects one in every 2,500 individuals, according to estimates. It is currently considered one of the Disorders of Sex Development (DSDs). Disorders of this nature are due to chromosomal compositions different from those that define gender, alterations or nonexistence of the gonads (ovary and testicles) and alteration in the production or action of male hormones. These manifestations may occur isolated or associated with other congenital diseases.

The lack of information about the DSDs and their proper treatment are sources of social stigma and suffering for the patients, who can actually have a normal quality of life if they have the necessary assistance and follow-up.

According to endocrinologist Berenice Bilharinho de Mendonça, a professor at USP's School of Medicine who is spending her sabbatical leave at the IEA, the lack of adequate information about the DSDs is not exclusive to the public, also reaching a considerable part of health professionals, which harms diagnosis and investigation of the causes of the disease, essential factors for the treatment of patients.

Since March, she is conducting her research project entitled "Development and Dissemination of Educational Material to Improve the Diagnosis and Treatment of Disorders of Sex Development (DSDs) in Brazil".

Mendonça has dedicated effort to the study of DSDs and to the follow-up of people affected by them for 40 years, a period during which the popular denomination of the patients, especially in the case of atypical genitalia, went from inadequate and stigmatizing terms, such as "hermaphrodite", to the imprecision of the term "intersexual", common for some years. She said that the patients themselves reject those terms and so the concept of sexual development disorder was adopted in the so-called Chicago Consensus, which was drawn up from a medical congress held in the city in 2006.

The researcher argues that a child should begin to be treated as soon as possible, including accurate reconstructive plastic surgeries when appropriate for the definition of their social sex. "This is independent of future gender identification or sexual preference and it is essential for the child not to feel discriminated and stigmatized."

"Certain sectors, such as groups of DSDs carriers, deal with the issue as if there was something like a 'third sex', when in fact the changes are the result of an illness. It is naturally accepted that a child may be born with malformation of the heart to be corrected, but one can not see that the same can occur with the genitalia and that this alteration does not correspond to a natural variation'.

Mendonça questions the groups that advocate that the carriers of an atypical genitalia should choose which social sex they wish via surgery as adults: "These groups are usually people traumatized by malpractice surgeries in childhood."

Risk of death

An early diagnosis becomes a life-or-death case when it comes to infants with DSDs associated with a congenital deficiency of hormones that are essential to life and produced by the adrenal glands: the congenital adrenal hyperplasia (CAH). In the manifestation of the disease there is salt-wasting (60% of cases).

In the CAH there is the production of male hormone in girls, which causes the virilization of the external genitalia. "Even in important centers such as São Paulo, 55% of the girls with virilized genitalia are attributed to the CAH because of lack of knowledge by the medical teams." But it is the boys who are at greater risk of death, since the CAH does not alter their genitalia and, therefore, it is not hypothesized that they are carriers of hyperplasia.

During her stay at the IEA, Medonça will develop actions to accelerate the diagnosis of this type of CAH, whose incidence is one in 10 thousand births. As the episodes of salt-wasting occur during the first 15 days of the baby's life, it is essential to run confirmatory biochemical tests in specialized centers as soon as a possibility of the disease is identified by the Guthrie test (done soon after birth). "Only this way it will be possible to immediately start treatment with medicines to ensure the survival of the child, who will have to take them for a lifetime."

There are DSDs that are not evident at birth or throughout early childhood, according to Mendonça. It may happen that at puberty a girl does not start menstruating and ends up finding out that she has no ovaries, but internal dysfunctional testicles. "It is a case where, instead of having XX sex chromosomes, the girl has XY sex chromosomes, which are male definers. These chromosomal differences happen in two of every 50 thousand individuals on average, that is, of every 25 thousand women, one will have XY sex chromosomes instead of XX sex chromosomes, the same happening in every 25,000 men, where one will have XX sex chromosomes and not XY ones."

This chromosomal alteration has happened to Belgian top model Hanne Gaby Odiele, who has already paraded for several haute couture designer brands (currently she is the "face" of the French Balanciaga). She has XY chromosomes associated with androgen insensitivity syndrome due to a mutant gene that encodes the androgenic receptor located on the X chromosome. At the age of 10, she had the internal testicles removed and at the age of 18 she underwent surgery for the adequacy of the size of her vagina.


The objective of Mendonça's project at the IEA is to develop and disseminate protocols for health professionals and instructive materials on clinical, laboratory and molecular diagnosis for parents, family members and teachers of children with DSDs. The intention is to collaborate with the diagnosis and appropriate treatment of these children in Brazil.

Her first activity will be the development of a proposal for patients with atypical genitalia to have a national registration. They would be registered after their and / or their parents' consent, being ensured of their absolute secrecy of identity. Another concern is to publicize the use of the emergency medical card to warn of the risk of salt-wasting crises in CAH patients with this implication.

She will also provide studies to define the molecular causes of DSDs in the multi-user Large Scale Sequencing (SELA) laboratory of FM-USP. This will be done when the molecular study shows itself important to ascribing the patients' social sex.

One of the books to be produced will be elaborated in the form of questions and answers, and directed to the orientation of relatives of children with atypical genitalia. The other book will be on sexual education of children and adolescents with DSDs.

In parallel to this all, Mendonça will continue to provide online counseling to physicians who treat children with atypical genitalia throughout the country. This will be done through the website and by means of other internet resources, such as YouTube and Skype. In the latter case it is necessary to evaluate the observable characteristics of the child.

In addition, she will develop teaching material to be made available online and will provide face-to-face classes to health professionals (nurses, social workers, doctors and biologists) in university centers in other states. In these classes, the researcher will disclose clinical protocols for the care of children with atypical genitalia, and inform parents and relatives of these children about the issue.

In the therapeutic field, Mendonça intends to make efforts for the São Paulo State Health Department to develop actions to make hydrocortisone and fludrocortisone available for the treatment of salt-wasting CAH in Brazil.

She said that meeting this demand is in line with the principles of the Brazilian law which deals with therapeutic care and the incorporation of health technology within the scope of the Unified Health System (SUS). "What is important is that these medicines are available either through the production of public laboratories or through the purchase of domestic or foreign private suppliers."

Mendonça also wants to work together with the Association of Parents and Friends of the Exceptional (APAE) and the São Paulo State Secretary of Health to reduce the time of convocation of the children screened for CAH through the Guthrie test. This should lower the incidence of dehydration and hospitalization of affected children. According to the researcher, currently 65% of children undergoing confirmatory exams at Hospital das Clínicas, owned by the FM-USP, show dehydration. "This indicates that the neonatal screening still does not prevent the child from reaching this state due to the delay in their referral for specific tests."

At the end of the project, Mendonça will write a scientific paper in which she will report the results of the actions taken during the sabbatical year at the IEA.

Photo: Leonor Calasans/IEA-USP