The Psychosocial Impact of Disorders of Sexual Development
Kavita Ravendran1,2* and Rebecca Deans1,2
1GynaecologyResearchandClinicalExcellence (GRACE), Royal Hospital for Women, Australia
2University of New South Wales, Australia
Kavita Ravendran, University of New South
Wales, Australia, Tel: 614-2319-5215; Email: firstname.lastname@example.org
Submitted: 20 June 2019; Accepted: 29 June 2019; Published: 30 June 2019
Cite this article:
Ravendran K, Deans R (2019) The Psychosocial Impact of Disorders
of Sexual Development J Sexual Med Reprod Health 2: 4.
Disorders of sexual development (DSD) consist of ‘congenital
conditions with atypical development of chromosomal, gonadal,
or anatomic sex’ as defined in the 2006 consensus statement(1).
These disorders are rare and data on incidence is limited
however they are estimated to affect 1 in 5500 new born’s. The
majority of DSDs are secondary to congenital adrenal hyperplasia
(CAH), androgen insensitivity syndrome (AIS) and mixed gonadal
dysgenesis . However, it is important to note that not all patients
are diagnosed at birth. These disorders are now classified into; 1)
Sex chromosome DSD such as 45X Turners syndrome, XX Male
and XY Female, 2) 46 XY DSD including androgen insensitivity
syndrome (AIS) and testicular regression syndrome (TRS); and
3) 46 XX DSD including pure gonadal dysgenesis (PGD), and
congenital adrenal hyperplasia (CAH) [2-4].
These disorders confer significant psychological impact upon
patients and their families and remain challenging to holistically
manage in the medical setting. Psychosocial care in these patients
and families has previously been described as in adequate with
minimal research in the area . This review of current literature
aims to shed some insight into current methods to evaluate
psychological outcomes and co morbidities of DSD patients and
their families, associated psychosocial and cultural factors as
well as current management approaches.
A search of MEDLINE, EMBASE and Clinical trials USA and
Australia was conducted using MESH terms ‘disorders of sexual
development,’ ‘psychology’ and ‘quality of life.’ Article titles and
abstracts were screened prior to evaluating individual articles.
Results predominantly consisted of review articles, qualitative
prospective studies and narrative articles. Articles had to include
a measure of psychological impact or quality of life, or include
description of contributing psychosocial factors affecting patient
Articles that focused on psychosexual development, sexuality,
gender identity or only surgical management were excluded. Non-
English articles were also excluded. The time frame consisted of
articles from 1990 to present acknowledging that prior research
was predominantly focused on early surgical management or
these disorders rather than psychosocial impact, and a paradigm
shift in the management of these patients has since occurred.
Four themese merged from the literature search, namely
psychological support and treatment for parents and patients,
the need for holistic management, quality of life assessment and
identification of sociocultural factors that impact psychological
health in DSD patients. Psycho sexual development, sexuality
and gender identification are substantive issues that will not be
discussed in depth.
A diagnosis of DSD can be traumatic for parents, as shown
in multiple qualitative studies [6-8] and appropriate parental
counselling, psychological and educational support is important
[9-11]. A recent study surveyed 51 parents of infants under the
age of 2, diagnosed with moderate to severe DSD with no decisions
made regarding gender assignment at that stage. Over 25% of
parents reported reduced quality of life, 18% reported clinically significant symptoms of depression and 25.4% had moderate to
severe anxiety. A subset (15%) reported post-traumatic stress
symptoms (PTSS). Uncertainty regarding the health of the child
is also expressed by parents, with higher uncertainty reported
for boys, or those unsure of their child’s gender .
Genital surgery in infancy is controversial. The traditional
binary gender classification system was at the core of decisionmaking
with the belief that children require ‘unambiguous
genitalia’ to develop healthy gender identity . This binary
classification has been subject to bioethical criticism and
challenged with the suggestion of incorporating ‘intersex’ into
the classification system to allow for gender fluidity [13-15].
There is minimal outcome data to support genital surgery, with
concerns that capacity for orgasm may be severely affected by
early surgery as well as risks of scar tissue, stenosis and multiple
procedures [12,16-18]. An older study of 59 patients found higher
rates of psychopathology despite early surgical intervention .
Since the early 1990s, critics and lobby groups have expressed
the need to end social prejudice, stigma and forced medical
interventions. They have instead emphasised the need for family
and patient-centres care, advocacy for self-determination and
bodily integrity for these individuals .
Previously, early surgical intervention and gender
reassignment was encouraged with a view to improving parental
psychological distress . On the contrary, a recent prospective
study of 49 parents of children with DSD measured parental
distress before and 6 months after genitoplasty, and found no
significant change in parental anxiety, depression or quality life.
PTSS reduced, which the authors postulated could represent
parents’ having come to terms with the acute stress of initial
diagnosis . Another similar study interviewed 45 parents prior
to, and 12 months after their children underwent genitoplasty.
They found significant improvement in psychological distress
symptoms; however 21% of parents reported ongoing clinically
relevant distress. It was unclear whether resolution in symptoms
is specific to parents whose children underwent genitoplasty or
if this represented adaptation consistent with passing the acute
stress phase .
Individuals quality of life
There have been multiple largely observational studies
examining quality of life for individuals with DSD, mental health
diagnoses and barriers to seeking psychological help [22-30]. A
recent study of 110 adults with DSD found lower mental health
related quality of life, and significantly higher distress including;
obsessive-compulsive, depression, anxiety, paranoid ideation,
hostility and psychoticism . Multiple studies of school aged
children have shown similar results with reduced paediatric
quality of life inventory scores, and lower school functioning,
particularly for subjects of assigned female sex [23,31,32].
A recent review of the literature found that dissatisfaction
resulted from inadequate management rather than assigned
sex or condition. Another cross-sectional study also found that
individual’s health status, rather than diagnosis is important
. This indicates the need for specialised, multidisciplinary,
tailored care for these individuals.
Additionally, repeated genital examinations have been
identified as a factor in reduced quality of life and dissatisfaction.
A recent literature review was conducted pertaining to childhood
sexual assault (CSA) in order to better quantify potential
psychological harm from repeated genital examinations in
individuals with DSD. Multiple recommendations were made
including: giving information to parents and subjects prior
to medical appointments, encouraging parents to discuss the
examination with their children prior to the appointment,
training physicians to provide reassurance about normal aspects
of the examination while practising full disclosure, making efforts
to reduce stigma, empowering youth to have some control of
aspects of the examination and limiting the number of medical
professionals present. The authors identified management of
DSD as an area requiring further research, particularly in regards
to anxiety and distress related to the genital examination .
Ideally a multidisciplinary team should be involved in
caring for DSD individuals and their families consisting of;
an endocrinologist, urologist, gynaecologist, psychologist,
biochemist, geneticists and social workers with access to ethical
advice and specialist investigations [9,35]. However, given
the rarity of these disorders and subsequent lack in specialists
with adequate knowledge and skills, access to multidisciplinary
care can be difficult. It has been suggested that official ‘Centres
of Excellence’ be established to care for DSD individuals and
families to mitigate this, however internationally limited public
health care and finances limits this strategy [3,36]. Finally, given
the heterogeneity of the disorders, care must be tailored to the
Gender assignment or ‘sex of rearing’ choices are strongly
affected by individuals’ cultural contexts, with religious and
traditional beliefs impacting parents’ decisions. In cultures
where males achieve privileged financial and social position,
there may be increased pressure to raise children as male .
Additionally, concerns about infertility and potential social
stigma may also affect decision making. There have been limited
studies examining these sociocultural factors in DSD individuals
internationally, the majority of current research data comes from
Caucasia an patients from Europe and America .
Are view of subjects with CAH from developing countries
noted additional challenges regarding quality of life including
poverty, ignorance, illiteracy, lack of medical access, lack of
medical specialists and psychological services . A recent
study conducted psychologist led interviews of 205 Indian
children with DSD and their parents and uncovered a myriad
of issues including: high maternal distress as many mothers
felt the condition had been transmitted through them, late
or misdiagnosis, significant discrimination from medical and
paramedical staff, inadequate information provided to parent
pre-operatively and parental preference to raise children as male
due to social advantages in a patriarchal society . Higher
rates of anxiety and depression were also reported in Indonesian adult patients who received late diagnoses . A prospective
study of 40 Nigerian subjects predominantly residing in rural
communities uncovered similar social issues and barriers to
care, with4 individuals attempting suicide due to social stigma
and lack of acceptance .
This review highlights the need for clear communication,
accurate diagnosis and multidisciplinary care to mitigate
psychological harm. Development of hospital or health-network
based guidelines for assessment of newborns with ambiguous
genitalia would be effective in educating staff and ensuring
parents receive accurate information early on. Streamlining
referral pathways to tertiary centres which can act as ‘centres of
excellence’ where possible, would be beneficial. Finally, utilising
validated quality of life measures and systematic, regular
screening of psychosocial outcomes will help identify targeted
areas to improve psychological status . Further research and
education will be necessary to improve standards of care in the
developed, and particularly the developing world.
While DSD are rare, they certainly have significant impact
upon individuals and their families’ due to their sensitive nature
and stigma surrounding gender identity and gender roles. Parental
and patient mental health and quality of life are often adversely
affected by these diagnoses. Sociocultural factors further affect
those individuals who reside in developing countries with
limited access to healthcare. Educating medical and paramedical
staff is crucial to ensure adequate early assessment, diagnosis,
counselling, and where appropriate management. Caution should
be exercised in early genital surgery to ease parental distress;
rather this should be a team-based decision at an appropriate
age where the individual can be involved in the consent process.
Psychological input should be specialised and accessible. Further
research is necessary to improve standards of care.