Surgery of Anomalies of Gonadal and Genital Development in the “Post-Truth Era”

The syndromes of congenital adrenal hyperplasia (CAH), particularly their classical variants, present diverse medical and psychosocial challenges to the affected individual at all stages of life from the prenatal phase through old age. This chapter reviews the psychological outcomes in terms of gender, general cognitive development, psychopathology, sexuality, and quality of life, the factors that contribute to these outcomes including neuroanatomy and brain function, and the implications for the clinician and for the organization of health services.

Background: Children affected by 45,X/46,XY mosaicism have a wide spectrum in their phenotypes. Although surgery has a role in management, there is no universally agreed strategy.

Methods: We conducted a retrospective review in a tertiary center on the surgical management and its long-term outcomes in children with the karyotype 45,X/46,XY or its variants over a 20-year study period. Patients were divided into 4 groups based on their phenotypes.

Results: 22 children(female=13, male=9) were included in the study, and were grouped as I)female phenotype(n = 11), II)ambiguous external genitalia(n = 2), III)undervirilized male with hypospadias(n = 6), and IV)normal male phenotype(n = 3). 19/22(86%) underwent gonadal surgeries(bilateral gonadectomy=15; unilateral gonadectomy=1; testicular biopsy=3) and  8/22(36%) underwent genitalia reconstructive surgeries(hypospadias repair=6; feminizing surgery=2). Gonadal germ cell tumors were detected in 55%, 50% and 50% of Group I, II and III respectively. 3/6 patients required reoperations for complications after hypospadias repairs. None of the patients had recurrence of germ cell tumors after gonadectomy. All the patients who had reached late adolescence or adulthood maintained their genders as their sex of rearing.

Conclusions: Majority of 45,X/46,XY children benefit from timely gonadal surgery while genitalia reconstructive surgery can be considered in selected patients. Surgical management can be strategized by patients’ phenotypes.

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Patients usually present during the newborn period but occasionally some cases remain unrecognized until later in infancy or even adolescence. Genital appearance, psychosocial support, sociocultural background, gender identity development, and genetic and biochemical analysis in addition to ethical and legal implications need to be considered when deciding on the appropriate treatment strategy. Surgeons are important members of the multidisciplinary expert teams involved in the initial approach and long-term follow-up. Surgical care of DSD patients is one of the main challenges. Recommendations regarding the opportunity and timing of surgical procedures are still under discussion. Surgical procedures are aimed to reduce urologic problems, prevent the risk of gonadal germ-cell cancer, and facilitate sexual function and reproduction.

Providing its excellent visualization, access to pelvic structures and less postoperative adhesion MIS has been an important tool in the diagnosis and treatment of DSD. The role of MIS will be summarized in: 1) Gonadal biopsy / gonadectomy 2) Treatment of urogenital sinus/vaginoplasty 3) Vaginal Replacement 4) Resection / treatment of Mullerian structures

La prise en charge des enfants et adolescents porteurs d’un diagnostic de Désordre de développement du sexe (DDS) est aujourd’hui une question en débat et en discussion tant sur le plan des pratiques soignantes, que sur le champ social et politique. Une des préoccupations centrales des équipes de soins engagées autour de la prise en charge et l’accompagnement des personnes porteuses d’un DDS et de pouvoir proposer une prise en charge la plus efficiente dans l’objectif de promouvoir le meilleur épanouissement possible des personnes concernées. Si l’un des points centraux des échanges actuels porte sur la question des indications de prises en charge médicochirurgicales précoces, la question se porte tout autant sur la place et les modalités d’assignation de genre d’un enfant à sa naissance et des différentes conséquences pour lui dans sa vie future. La question du devenir des enfants nés et porteurs d’un DDS en termes d’inscription dans une identité de genre est étudiée depuis les années 1950 et s’est développée sur des présupposés théoriques très divers ; du champ psychodynamique et psychanalytique à des présupposés biologiques. La littérature scientifique est particulièrement hétérogène sur le sujet et recoupe des méthodologies de type reports d’expérience, des études cas témoins comme des méthodologies issues de l’Evidence Based Medecine. En appui des éléments issus de la littérature scientifique et en appui d’un travail collaboratif du réseau national des Centres de référence maladies rares du développement génital: du fœtus à l’adulte, ce travail vise à définir les contours des modalités d’organisation et des aspects déontologiques actuels des équipes engagées autour de cette activité sur le territoire français.

The care of children and adolescents with a diagnosis of Sex Development Disorder (DSD) is today a matter of debate and discussion both in terms of care practices and in the social and political fields. One of the central concerns of the healthcare teams involved in the care and support of people with DDS is the ability to offer the most efficient care in order to promote the best possible development of the individuals concerned. While one of the central points of the current discussions concerns the question of indications for early medical and surgical care, the discussion also concerns the place and modalities of gender assignment of a child at birth and the different consequences for them in their future life. The question of the future of children born with DSD in terms of inclusion in a gender identity has been studied since the 1950s and has developed along very different theoretical presuppositions; from the psychodynamic and psychoanalytical field to biological presuppositions. The scientific literature is particularly heterogeneous on the subject and includes methodologies such as experience reports, case-control studies and methodologies from Evidence Based Medicine. In support of the elements from the scientific literature and in support of collaborative work by the national network of the Centers for Rare Diseases of Genital Development: from foetus to adult, this work aims to define the outlines of the current organisational arrangements and ethical aspects of the teams involved in this activity in France.

Le dilemme éthique concernant la prise en charge des enfants ayant un trouble de la différenciation sexuelle oppose les patients ayant bénéficié des indéniables avancées médicochirurgicales au cours des 30 dernières années et les patients ayant souffert des premières prises en charge, vécues comme des « tortures » ou « mutilations génitales ». Ces derniers, regroupés en associations activistes (dont l’Organisation Internationale des Intersexes), réclament l’interdiction d’opérer les enfants sans leur consentement préalable, au nom du droit fondamental à l’auto-détermination et à l’intégrité corporelle. Ce « libre choix » laissé à l’enfant ne tiendrait pas compte de l’avis des parents ni de celui de l’équipe médicale, ni d’éventuelles conséquences psychologiques, sociales et sociétales, ni encore des risques de la chirurgie tardive. Les récentes évolutions législatives sont exposées. L’intérêt de légiférer sur ces situations si délicates touchant au plus intime est questionné, ce d’autant qu’elles sont d’une grande complexité du fait de l’hétérogénéité des causes génétiques et des situations familiales. Les sociétés médicochirurgicales, en lien avec les associations de patients, dénoncent ce hold-up médiatique des militants « Intersexes », qui ne sont pas représentatifs de la population entière prise en charge plus récemment. Elles préconisent de continuer à appréhender ces situations au cas par cas, en laissant le choix aux parents de permettre à l’enfant de grandir dans un corps sexué.

The ethical dilemma concerning the care of children with a disorder of sex development opposes patients who have benefited from undeniable medical and surgical advances over the past 30 years and patients who have suffered from initial carek, experienced as “torture” or “genital mutilation”. The latter, grouped into advocacy organization (including the International Intersex Organization), recommend that genital operation of children must be avoided until they can give their prior consent, in the name of the fundamental right to self-determination and physical integrity. This “free choice” left to the child would not take into account the opinion of the parents or that of the medical team, nor any psychological, social and societal consequences, nor the risks of late surgery. Recent legislative developments are exposed. The interest of legislating on these delicate situations affecting the most intimate is questioned, especially as they are of great complexity because of the heterogeneity of genetic causes and family situations. Medico-surgical Societies, in connection with patient associations denounce this media hold by “Intersex” activists, who are not representative of the patients having been managed more recently. They advocate to continue to understand these situations on a case-by-case basis, leaving the choice to the parents to allow the child to grow up in a gendered body.