Disorder of Sex Development (DSD) corresponds to the heterogeneous group of congenital conditions in which chromosomal, gonadal, and anatomic sex development are atypical (Scolfaro et al., 2005; Lee et al., 2006; Hughes, 2015). DSDs were categorized into three main subgroups, according to karyotype: XX, XY, and Sex Chromosome for mosaic karyotypes (Romao et al., 2012). With varied incidence in different populations (Scolfaro et al., 2005; Lee et al., 2006; Romao et al., 2012; Hughes, 2015, 500–5,5,000), it is considered a rare phenomenon (Lee et al., 2016). In general, the diagnosis is made at birth or infancy and interventional actions are necessary in many cases, despite the considerable existing controversy, especially nowadays. Some types of atypical genitalia at birth may be considered DSD, together with all chromosomal, gonadal, and genital sex discrepancies.

Non-interventional or clinically based studies present the long-term outcomes of hormone therapy, surgical intervention, social and psychological support to patients with DSD conditions from adolescence onwards (Röhle et al., 2017; Baudewijntje et al., 2018; Rapp et al., 2018). For people with DSD, quality of life, sexual aspects, physical and psychological wellbeing, as well as satisfaction with the treatment (hormonal, surgical, psychological) are predictors of good global development (Ernst et al., 2019).

Sexuality is one of the elements that constitute human development and, in people with DSD, it is one of the elements that is directly affected. It involves elements, such as social image, body image, degree of identification with the assigned gender, fertility, and sexual behavior (McCabe et al., 2010; Monteiro Pascoal et al., 2015; Schweizer et al., 2017).

According to the DSM-5 (American Psychiatric Association, 2013), Gender Dysphoria (GD) as a general descriptive term, refers to the affective/cognitive incongruence of an individual with the sex designated, although it is more specifically defined when used as a diagnostic category. Individuals with Gender Dysphoria present marked inconsistencies between their assigned gender (the birth gender) and the experienced/expressed gender. The diagnosis comes from the existence of distress between the expressed and the designated gender, and not just the differentiation between them. The DSD is one of the GD diagnosis specifiers, however, it does not describe the specific characteristics for this group, taking into account the multiple variables throughout development (Kraus, 2015).

The sexual response (including physiological responses to desire, arousal, and orgasm) expressed through sexual behavior is associated with positive or negative affection and general wellbeing about oneself and the body (Peterson and Janssen, 2007; Poeppl et al., 2016). Many people with DSD conditions are less sexually active than the general population, they do not seem satisfied with their sex lives, and experience a wide range of sexual problems (Kreukels et al., 2019). Men with DSD show dissatisfaction with the penis length, ejaculation, satisfaction with the external genitalia, and frequency of sexual activity, with different levels of satisfaction between subgroups (Van Der Zwan et al., 2013). Women with DSD may experience difficulties with the body and sexual activity, as well as the size and width of the vagina, the size of the clitoris, or fears for intercourse, the percentage varying by subgroup (Kleinemeier et al., 2010; Kreukels et al., 2019).

The aim of this study is to investigate aspects related to sexual behavior—gender dysphoria and aspects related to sexual activity—in a group of 16 adolescents and adults in a systematic follow-up at the HCPA pediatric surgery and urology clinic (Table 1). These people underwent some surgery and/or received systematic follow-up within this specific unit of the Hospital between 2000 and 2019. DSD core diagnoses may coexist with other associated diagnoses.

All patients had records and clinical follow-up at the HCPA Pediatric Surgery and Urology Outpatient Clinic, with a confirmed diagnosis of DSD. The interviews were carried out in the hospital premises, after the annual/biannual clinical care provided to the patients. All protocols were applied during a single session, preceded by the reading of the informed consent, presentation and description of the procedures to be performed, with the purpose of evaluating the general conditions and aspects of the participants’ body image and sexuality. The group consisting of DSD/Chromosomal people underwent the same protocol, but online, via forms, due to the restrictive conditions of the SARS-COVID-19 pandemic during the collection period.

The results described are part of a wide research which involves ten protocols for the global assessment of patients. The protocol includes the sociodemographic assessment of the Brazilian Institute of Geography and Statistics (IBGE); Quality of Life (WHOQOL-BRIEF); Anxiety and depression (DASS22); Rosenberg Self-Esteem Scale (EAR); Body Image (Body Image Scale—BIS); Body Satisfaction (Utrecht Scale); Male/Female Sexual satisfaction (MSQ and FSQ); ICD-11 inventory of the study in the Brazilian field (Soll et al., 2018; Lobato et al., 2019); Kinsey Scale of Self-Denomination of Sexual Orientation; Descriptive questionnaire about the participant’s body and sex life. In this study, data referring to the presence or not of Gender Dysphoria, MSQ, and FSQ Scale were selected, in addition to aspects reported by patients during the questionnaire about their sexual life.

The construction of sexuality involves many objective and subjective elements. Sexual behavior can be affected by DSD in several ways related to the condition and treatment. Genital ambiguity can cause physical problems, including difficulties with penovaginal intercourse. It can also lead to widespread social stigmatization, undermining self-esteem and leading to avoidance of nudity, sex, and dating (Berenbaum and Meyer-Bahlburg, 2015).

Gender Dysphoria described as low in case reports and follow-up studies reveal that it is most frequently seen among 46, XY non-gonadectomized individuals raised as girls who were exposed to high levels of effective androgens again from puberty (Furtado et al., 2012; Callens et al., 2016). In this group, Gender Dysphoria was non-existent in both XX DSD and XY DSD, regardless of previous treatment. The sample is small and may not be representative of the DSD population. In this case, Gender Dysphoria reaches levels similar to that of the general population, with less than 1% of dysphoric people who present some inconsistency with their gender (Baudewijntje et al., 2018). The only case of incongruity between the sex designated in infancy, and the gender with which this person identifies themselves was in the Chromosomal Group, in which the participant identifies themselves as a “Trans man” and a woman at birth. The other two cases (DSD 46XX and DSD 46XY), even with different designations concerning the genetic aspects, did not present any incongruity or dysphoria in relation to the sex assigned at birth.

In the sample, three XY DSD men, one Chromosomal DSD man, and one XX DSD woman have sex life with penetration. When analyzed in subgroups by diagnosis (PAIS, 5α-reductase deficiency, Mixed gonadal dysgenesis), there is no significant correlation by diagnostic category. The low female sexual frequency, even in a small sample, is in line with the literature, in which female adolescents are less sexually active (Kleinemeier et al., 2010). In the case of XY DSD, the experience of penetrative sex is greater. The average onset of sexual life is at 17 years and 7 months, considered later than the general population, except for one of the participants, who started at the age of 18. In the Brazilian population, about 35% of the adolescents in urban areas have had sexual intercourse before the age of 14 and an average of 15 years in rural areas (Oliveira-Campos et al., 2014; De Sousa et al., 2018). One element that is repeated among the participants is that they all reported having had only one sexual relationship. This may indicate an experimenting relationship just lacking a continuation or interest in sex life for other associated reasons.

In the case of XY DSD men, the average penis size in erection (10.2 cm) is considered below the Brazilian national average (14.5 cm; Gabrich et al., 2007). Male sexual function can be achieved, but there is a possibility of dissatisfaction with the quality of sexual life. Dissatisfaction with penis size can affect self-esteem and quality of life (Kreukels et al., 2019).

The reference to feelings, such as fear, shame, and anxiety, even if not quantified in our population, shows us a constant reality in people with DSD, as reported in previous research: feelings of shame and the experience of stigmatization affect psychological wellbeing. Due to uncertainty about the genital appearance and functional performance, many individuals with DSD fear intimacy and report sexuality-related anxiety and distress, resulting in a tendency to delay or avoid the sexual experience (Cools et al., 2018).

About the sexual act, in particular, even if not all the participants have answered the questionnaires, the 46XY DSD group and the men of the DSD Chromosomal group demonstrated to be interested in a sexual life. However, they do not feel safe about the continuation of the sexual act and have low levels of satisfaction and self-confidence in relation to the sexual act, except for those who have already had sexual experience with penetration. Among the five men who had already had intercourse with penetration, four reported micropenia (by self-reported measurement of the erect penis). None of them have a partner, they are alone/single. Difficulties in ejaculatory control, recognized by the participant, are present in 40% (two participants), however, based on a single sexual relationship, we cannot affirm it is a sexual dysfunction. All of them report good erection ability and maintenance of erection during sexual intercourse. The association of this quotient related to sex life, penis size, and negative feelings (shame, anxiety, and fear) can be factors for late onset and dissatisfaction with sex life. Even among those who have had penetrative sexual activity, all of them report having had only one sexual relationship, without a continuation of the sexual function in their lives. This condition of “experimentation” with a single sexual relationship can interfere with the judgment of their performance and make it difficult to include sexual activity in future relationships.

Among women, only two from the XX DSD group showed sexual interest through the questionnaire. The others did not respond to the in-person or online questionnaire. Among these two, only one woman reported having had a penetrative sex life, but with only one sexual relationship. Among them, the religion factor linked to the Evangelical and Catholic Churches (in general, more restrictive in terms of sexual practice) is very important in their lives and can be an inhibiting factor in sexual behavior and thoughts, even in the field of research.

Preliminary and initial research data point to a scenario of the construction of sexuality in a specific group of people with DSD who are being monitored at the pediatric surgery and urology clinics of the Hospital de Clínicas de Porto Alegre. It is an exploratory work that depicts the development of the sexual life of people diagnosed with DSD, who have undergone some surgical intervention on their genitals.

This study, aligned with the world literature, emphasized a late onset of sexual life, almost 3 years after the national average. A recurrent feature in the report of this group is that, even having already performed the sexual act with penetration, there is no continuation in their sexual life. This act can be perceived more as an experimentation than an ongoing sex life. Most were single, without partners at the time of the survey. Among women, sex life is more restricted than among men. The patients’ sexual life shows a development similar to previous studies, in which the postponement of the beginning of sexual life or its absence (both in XX DSD and XY DSD), may be related to other aspects of the individual’s life, such as body image, self-esteem, or feelings of shame or fear.

Sexual attraction to both men and women (homosexuality, heterosexuality, bisexuality), as well as the presence of masturbatory acts, indicate the presence of sexual desire directed toward the other. This aspect points to the need for continuous information and guidance on the sexual aspect, safeguarding the individual differences of every person.

Finally, the sample limitation does not prevent us from observing, in an exploratory way, that the DSD condition involves not only physical and genital development, but also subjective conditions, such as sexual functionality, both in the individual sphere and in the relationship with others.

The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.

The studies involving human participants were reviewed and approved by UFRGS—Hospital de Clínicas de Porto Alegre da Universidade Federal—Plataforma Brasil. Written informed consent to participate in this study was provided by the participants’ legal guardian/next of kin.

All authors listed have made a substantial, direct, and intellectual contribution to the work and approved it for publication.

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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