Abstract
Introduction
Various studies have shown a high association between gender incongruence (GI) and mental disorders, and a higher presence of GI in certain populations such as autism spectrum disorder. The scientific literature on GI in people with intellectual developmental disorder (IDD) is very sparse, no data on the effects of gender-affirming hormone therapy and gender-affirming surgery are available.
Aims
We report the first case of an individual with GI and IDD and comorbid psychiatric disorders who underwent gender-affirming treatments, with a largely positive outcome.
Methods
We describe the diagnostic assessment and the course of treatment of a transgender man, assigned female at birth, with a mild IDD (IQ 53) and bipolar disorder, who benefited from gender-affirming hormone therapy, followed by gender-affirming surgery such as torsoplasty with bilateral mastectomy, hysterectomy with oophorectomy, colpectomy, and proximal urethroplasty and finally phalloplasty. He also benefited from appropriate psychological support and from treatments to stabilize psychiatric disorders.
Results
Two years after the phalloplasty, he reports complete disappearance of GI. Psychiatric symptoms have reduced, in terms of anxiety and mood swings, to the point where psychiatric hospitalization were no longer necessary since torsoplasty with bilateral mastectomy. His social functioning has also improved.
Conclusion
This case report provides a clear focus on the importance of multidisciplinary work between IDD and GI specialists to evaluate and manage GI in individuals with IDD. It addresses the complexity of gender identity exploration and expression for individuals with IDD and brings attention to their vulnerability. This case report offers limited exploration of practical solutions or interventions and does not provide detailed treatments strategies. Given the complexity of this case report, which involves both IDD and bipolar disorder, it is challenging to draw generalizations or definitive conclusions.
Keywords: gender-affirming surgery (GAS), intellectual developmental disorders (IDDs), gender incongruence (GI), mental disorders, self-determination, autonomy
Introduction
Gender incongruence (GI) is characterized by a marked and persistent incongruence between an individual’s experienced gender and assigned sex. It is classified as a condition related to sexual health in ICD-11.1 However, the DSM-5-TR still conceptualizes this condition as a mental disorder associated with clinically significant distress or impairment in social, occupational, or other important areas of functioning and defines it as gender dysphoria.2 In health system-based studies, the presence of GI in the general population is about 0.02%-0.1%, but in survey-based studies the presence of transgender or gender diverse individuals is much higher.3 Individuals experiencing GI can express the desire to align their physical appearance with their gender identity through various treatments.3 The goal of gender-affirming hormone therapy (GAHT) is to induce changes in secondary sexual characteristics, typically using estrogen and anti-androgen treatment or testosterone.4,5 Gender-affirming surgery (GAS) refers to various procedures such as vaginoplasty, phalloplasty, breast surgery, or facial surgery. These treatments reduce GI and aim to improve wellbeing and quality of life.3
Various studies have shown a high association between GI and mental disorders, and a higher presence of GI in certain populations such as autism spectrum disorder.6
Intellectual developmental disorders (IDDs) are neurodevelopmental disorder characterized by significant difficulties in intellectual and adaptive functioning, impacting conceptual, social, and practical skills.2,7
The scientific literature on GI in people with IDD is very sparse. A few cross-sectional studies and some case reports assess GI in this population in which GI may be more frequent than in the general population.6,8
To our knowledge, we report the first case of an individual with GI and IDD who underwent gender-affirming treatments, with a largely positive outcome.
Methods
Case report
A transgender man, assigned female at birth, consulted in October 2016 at the age of 24 years at a specialized GI unit, expressing GI. Previously, he had been attending an outpatient clinic specialized in IDD for several years. His diagnoses included mild IDD with an IQ of 53 and bipolar I disorder. He regularly suffered from anxiety, irritability, mood changes, delusional ideation, and self-harming behaviors, requiring frequent hospitalizations (18 times between 2012 and 2020, as detailed in Table 1). During psychiatric follow-up, the patient underwent multiple pharmacological treatments, predominantly involving mood stabilizers and antipsychotic agents. Several therapeutic adjustments were implemented over time in response to clinical evolution, as detailed in Table 1. He also received continuous psychiatric and psychotherapeutic follow-up. Due to adaptive difficulties, he lived in a residence for people with IDD.
Table 1.
Hospitalizations and psychotropic treatments.
| Year (hospitalizations) | No. hospitalization/year | Duration (days) | Main psychotropic medication |
|---|---|---|---|
| 2020 | 1 | 14 | Lithium, aripiprazole, risperidone |
| 2019 | 1 | 10 | Lithium, aripiprazole, risperidone |
| 2018 | 4 | 17 | Lithium, aripiprazole, risperidone |
| 3 | 31 | Lithium, aripiprazole, risperidone | |
| 2 | 24 | Lithium, aripiprazole, risperidone | |
| 1 | 24 | Lithium, risperidone | |
| 2017 | 1 | 35 | Lithium, aripiprazole, risperidone, venlafaxine |
| 2016 | 2 | 36 | Lithium, risperidone, venlafaxine |
| 1 | 98 | Lamotrigine, risperidone, levomepromazine | |
| 2015 | 3 | 272 | Lamotrigine, risperidone, levomepromazine |
| 2 | 20 | Lamotrigine, zuclopenthixol, escitalopram | |
| 1 | 23 | Lamotrigine, zuclopenthixol, escitalopram | |
| 2014 | 3 | 34 | Lamotrigine, zuclopenthixol, escitalopram |
| 2 | 15 | Lamotrigine, risperidone, escitalopram | |
| 1 | 28 | Risperidone, escitalopram | |
| 2013 | 2 | 18 | Quetiapine, escitalopram |
| 1 | 8 | Quetiapine, escitalopram | |
| 2012 | 1 | 101 | Quetiapine, escitalopram |
The specialized GI evaluation revealed that GI was present alongside the diagnosed mental disorders. The patient described identification with the male gender since adolescence, with social behaviors related to male gender stereotypes. He expressed the desire to undergo GAHT and GAS. The diagnosis of GI was made according to DSM-5 and ICD-10 criteria. The clinical evaluation was conducted over several months. During this period, meetings were held with the patient's family and the staff of the residential facility. These interactions aimed to assess their observations, understanding, and acceptance of the patient's gender identity and expression. Additionally, the patient was encouraged to attend meetings of a transgender association to gain more knowledge about the experiences of others undergoing transition and to foster social integration within the LGBTQIA+ community. Effects of GAHT and GAS were discussed repeatedly by the various specialists implicated and revisited during supportive psychotherapy. A multidisciplinary team, including psychiatrists and psychologist specialized in IDD and GI, endocrinologists, and plastic surgeons, confirmed the patient's capacity to consent to the desired treatments.
Since February 2017, the patient has consistently presented with a male gender expression in everyday life, wearing male clothes, and being called with his chosen name in line with his male gender identity. In August 2017, he began masculinizing GAHT, with testosterone undecanoate, at a dose of 500 mg every 12 weeks, which was subsequently increased to 750 mg every 12 weeks. In 2018, he legally changed his gender on official documents. In 2019, he underwent torsoplasty with bilateral mastectomy. The following year, in 2020, he had a hysterectomy with oophorectomy. In 2021, he underwent a colpectomy and proximal urethroplasty, and in 2022, he proceeded with his gender affirming path through phalloplasty. Throughout the entire gender-affirming path, the patient benefited from family and institutional support and from supportive psychotherapy provided both by the team specialized in IDD and by the team specialized in GI.
Assessment
Assessment of GI was conducted using the Transgender Congruence Scale (TCS).9 Sexual satisfaction following the gender-affirming process was evaluated using the Brief Sexual Function Inventory,10 which was adapted for this patient by replacing items related to ejaculation with items focused on orgasm. It is important to note that neither of these scales has been validated in individuals with both GI and IDD.
Mental health disorders were assessed repeatedly throughout institutional follow-up. IDD was diagnosed in 2012 based on neuropsychological testing, including the Wechsler Adult Intelligence Scale11 for IQ assessment. Magnetic resonance imaging performed the same year did not reveal any abnormalities. In 2017, exome sequencing targeting 1066 genes associated with developmental disorders was conducted, but no pathogenic variants linked to IDD were identified. Social functioning was evaluated at both the beginning and end of each hospitalization using the Health of the Nation Outcome Scale for People with Learning Disabilities.12 Bipolar I disorder was diagnosed in 2016 based on clinical observation and a retrospective review of mood charting and anamnestic data.
Results
The treatments described above led to an improvement in the patient's mental state and a reduction in GI. In 2025, 3 years after the phalloplasty, he reported complete disappearance of GI, congruence between his appearance, body, and gender identity, improved sexual satisfaction, and better self-confidence. The TCS showed a 30-point improvement between 2016 and 2025. The gender affirming path likely had a positive impact on psychiatric symptoms, with improved social interactions capacities, reduced frequency and intensity of mood swings, and disappearance of self-harming behaviors. It is worth noting that since 2020, after torsoplasty and hysterectomy, no more hospitalizations were needed, even if mood remains moderately fluctuating, with anticipatory anxiety, and irritability, often linked to concerns about the outcomes of medical interventions during the gender affirming path.
Psychotropic medication in 2025 was lithium, aripiprazole, and risperidone.
Discussion
This case highlights the importance of evaluating and managing GI in people with IDD. This can have a significant impact on their mental health and improve their social functioning. Historically, there has been a tendency to infantilize people with IDD, to ignore their sexual interests, and their experiences of sexuality and gender. However, emerging evidence suggests that they can experience and express gender-related experiences and GI.6,8
However, due to delays in psychological, emotional, and social development, gender identity development may also be delayed.6,8 Additionally, people with IDD often have fewer opportunities to experience sexuality, which can further complicate their gender exploration and understanding of their needs. Furthermore, gender identity exploration and expression depend on the individual's cognitive abilities. People with IDD may lack the vocabulary to express gender identity as usually encountered in the general population.
Another factor is that the intersection of IDD and GI exposes individuals to complex and cumulative experiences of marginalization, encompassing social stigma, institutional discrimination, and systemic invisibility. These discriminations can also become barriers, limiting access to gender-affirming care. The Minority Stress Model provides a valuable theoretical framework for understanding how these intersecting pressures, rooted in multiple stigmatized identities, can adversely affect psychological well-being, identity development, and personal autonomy.13 Adopting an intersectional approach is therefore essential to inform inclusive and targeted interventions that address the specific vulnerabilities faced by this population. Given the importance of family, institutional, and social support during the transition process for mental health outcomes, it is essential to work collaboratively with families and institutions to foster such support.14
Various issues make the exploration of GI in people with IDD complex. For individuals with severe IDD, without verbal communication, gender evaluation is very complicated, and GI may not be recognized.
A challenge for caregivers is distinguishing between gender expression behaviors, such as wearing certain clothes, and gender identity. Gender identity refers to an individual’s deeply rooted internal experience of their own gender, which encompasses not only psychological self-perception but also the personal perception of one’s body. Gender expression, in contrast, denotes the external manifestation of gender identity, typically conveyed through choices such as name, pronouns, clothing, speech patterns, and social behavior. While gender identity and gender expression are often interrelated, they remain conceptually distinct; a person’s external presentation does not necessarily reflect their internal sense of gender.3,15 Due to developmental delays and reduced learning opportunities, as well as difficulties in verbal communication, it has been proposed that some behaviors in people with IDD, such as wearing clothes traditionally associated with another gender, may be interpreted as GI, which however carries the risk of overinterpreting these behaviors.8 Currently, there are no official recommendations on managing GI in this population.
Executive function deficits typical of IDD can impact the ability to consent to gender-affirming treatment, making the evaluation of discernment capacity complex, especially for irreversible treatments. In these cases, multidisciplinary work between IDD specialists and GI specialists is desirable.
In conclusion, this case report highlights the importance of training healthcare professionals working with people with IDD to evaluate gender identity and manage GI in a multidisciplinary manner. It is crucial that people with IDD have opportunities to explore their gender identity in a safe and supportive environment. Professionals should strive to minimize barriers to care that may disadvantage these individuals.
Contributor Information
Lorenzo Soldati, Sexual Medicine and Sexology Unit, Division of Psychiatric Specialties, Department of Psychiatry, University Hospital of Geneva, Geneva, Switzerland; Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Fabienne Gerber, Psychiatric Unit for Adults with Intellectual Developmental and Autism Spectrum Disorders, Division of Psychiatric Specialties, Department of Psychiatry, University Hospital of Geneva, Geneva, Switzerland.
Sotiria Maria Iliopoulou, Psychiatric Unit for Adults with Intellectual Developmental and Autism Spectrum Disorders, Division of Psychiatric Specialties, Department of Psychiatry, University Hospital of Geneva, Geneva, Switzerland.
Markus Kosel, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland; Psychiatric Unit for Adults with Intellectual Developmental and Autism Spectrum Disorders, Division of Psychiatric Specialties, Department of Psychiatry, University Hospital of Geneva, Geneva, Switzerland.
Conflict of interest
We confirm that all authors have disclosed any potential sources of conflict of interest.
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