Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India

Abstract

Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD). Both the children with DSD and their parents underwent semistructured interviews by a clinical psychologist. The birth of a child with DSD was perceived as a major medical and social problem by parents from all socioeconomic strata. Mothers were distressed as many believed the DSD condition was transmitted through the mother. Children who were not diagnosed and treated during infancy or early childhood experienced considerable social discrimination not only from relatives and friends but also from medical and paramedical staff in hospitals. Several patients had been operated during infancy without an etiological diagnosis and without provision of adequate information to the parents. Some children had problems related to complications of surgery. Most teenage patients with 5?-reductase-2 deficiency reared as females presented with gender dysphoria, while children with androgen insensitivity (except for one) or with gonadal dysgenesis developed a gender identity concordant with their gender of rearing. Parents of children with DSD preferred a male gender assignment for their children (if that was possible) because of the social advantages of growing up male in a patriarchal society.

Full text

SPECIAL SECTION: CULTURE AND VARIANTS OF SEX/GENDER: BIAS AND STIGMA
Gender Issues and Related Social Stigma Affecting Patients
with a Disorder of Sex Development in India
Angela Ann Joseph
1
•Bindu Kulshreshtha
2
•Iram Shabir
3
•
Eunice Marumudi
3
•Tony Sam George
4
•Rajesh Sagar
1
•
Manju Mehta
1
•Ariachery C. Ammini
3
Received: 21 November 2014 / Revised: 30 December 2015/ Accepted: 10 August 2016
Springer Science+Business Media New York 2016
Abstract Children with disorders of sex development (DSD)
manifest at birth with malformed genitalia or later with atypical
pubertal development. Those born with malformed genitalia are
often diagnosed at birth. However, in resource-poor countries like
India, where not all births are supervised by healthcare workers,
some of these children remain undiagnosed until puberty or even
later. The aim of this study was to assess the gender issues and psy-
chosocial problems of children with DSD. Participants included
205 children with DSD (103 with 46,XX DSD and 102 with 46,
XY DSD). Both the children with DSD and their parents under-
went semistructured interviews by a clinical psychologist. The
birth of a child with DSD was perceived as a major medical and
social problem by parents from all socioeconomic strata. Mothers
were distressed as many believed the DSD condition was trans-
mitted through the mother. Children who were not diagnosed and
treated during infancy or early childhood experienced consider-
able social discrimination not only from relatives and friends but
also from medical and paramedical staff in hospitals. Several patients
had been operated during infancy without an etiological diagnosis
and without provision of adequate information to the parents. Some
children had problems related to complications of surgery. Most
teenage patients with 5a-reductase-2 deficiency reared as females
presented with gender dysphoria, while children with androgen insen-
sitivity (except for one) or with gonadal dysgenesis developed a
gender identity concordant with their gender of rearing. Parents of
children with DSD preferred a male gender assignment for their
children (if that was possible) because of the social advantages of
growing up male in a patriarchal society.
Keywords Disorders of sex development Gender identity 
Gender dysphoria Social stigma Gender bias
Introduction
Disorders of sex development (DSD) are congenital conditions that
may manifest at birth with malformedexternal genitalia and/or later
with gender-atypical pubertal development, both raising questions
about appropriate assignment of gender. As the current report is
focused on individuals with genital ambiguity, aka intersexuality,
we use‘‘DSD’’here to refer exclusively to this subcategory, although
the formal definition of DSD also includes chromosome aneuploi-
dies such as Klinefelter’s and Turner’s syndrome, which tradition-
ally are not subsumed under the term intersexuality. Ideally, patients
with DSD are diagnosed and, if necessary, treated during infancy.
However, in India, with its marked limitations of medical resources,
many patients are not diagnosed and/or treated during infancy due to
infrastructural constraints and other social problems (Ammini et al.,
2002). As a result, we see in our clinic a heterogenous mix of sub-
jects presenting at different ages: infancy, childhood, adolescence,
and adulthood. To establish the evidence base for the development
of guidelines for clinical management in India, we are engaged in an
ongoing study of such patients at initial presentation and follow-up.
The aim of the current report is to present preliminary findings on
gender and related management problems, especially social stig ma,
that are faced by patients with a DSD and their families.
&Angela Ann Joseph
joseph.angela12@gmail.com
1
Department of Psychiatry, All India Institute of Medical
Sciences, Ansari Nagar, New Delhi 110029, India
2
Department of Endocrinology, Ram Manohar Lohia Hospital,
New Delhi, India
3
Department of Endocrinology, All India Institute of Medical
Sciences, New Delhi, India
4
Department of Psychology, Christ University, Bangalore, India
123
Arch Sex Behav
DOI 10.1007/s10508-016-0841-0

Method
Participants
Patients with DSD who attended the Endocrine Clinic of our
hospital during the last 4 years were the subjects for this study.
This hospital is an apex medical institute of our country where
patients from different parts of India and the neighboring coun-
tries come for treatment. Participants consisted of patients who
attended the outpatient services during a 4-year period starting
from August 2009–2013 (both patients on follow-up, who
were evaluated earlier, and new patients).
Procedure and Measures
All subjects underwent a detailed medical history, physical
examination, and biochemical, hormonal and genetic studies
required for making an etiologic diagnosis. Subjects above
5 years of age (and younger children via their parents) were
assessed by a psychologist using a semistructured interview
followed by psychological assessment tools such as the MINI
Kid, a diagnostic interview schedule (Lecrubier et al., 1997;
Sheehan et al., 1997), Symptom Checklist-90R (Derogatis,
2000), Gender Identity/Gender Dysphoria Questionnaire for
Adolescents and Adults (Singh et al., 2010), parent-admin-
istered Gender Identity Questionnaire (Johnson et al., 2004),
Draw-a-Person Test (Urban, 1967), WHO Quality of Life
(WHOQOL Group, 1998), Coopersmith Self-Esteem Inven-
tory (Coopersmith, 1981), Malin’s Intelligence Scale for Indian
Children (Malin, 1969), Verbal Adult Intelligence Scale (Prasad
& Verma, 1985), and the Strengths-and-Difficulties Question-
naire (Goodman, Ford, Simmons, Gatward, & Meltzer, 2003).
Over the last20 years as per routine clinical practice all patients
underwent psychological screening by clinical psychologists
at the hospital and over the last 4 years (Aug 2009–2013) detailed
psychological assessment was done for 49 patients using the
above mentioned tools. The present report is a descriptive data
based on a 20 year experience of the clinician and the psychologist
further substantiated by detailed psychological assessment.
Results
Patients with a DSD who attended the Endocrine Clinic of our hos-
pital during the last 4 years were the subjects for this study. A total of
250 patients were enrolled over the 4-year period. Age ranged from
2 weeks to 39 years. The total sample included 103 patients with
46,XX DSD [102 with Congenital Adrenal Hyperplasia (CAH), 12
of whom were raised as boys; 1 with a drug-induced DSD (by
danazol administered to the pregnant mother)]; 96 patients with
46,XY DSD [29 with Androgen Insensitivity Syndrome (AIS), 25
with 5a-reductase-2deficiency (5a-R2D), 13 with gonadal dysgen-
esis, 1 with 17b-hydroxysteroid-dehydrogenase-3 deficiency (17
b-HSD3D), 2 with CAH, and 26 without a specific diagnosis]; 5
with a sex chromosome disorder; and one with accidental castra-
tion. The distribution of ages at initial evaluation is given in Table 1.
The birth of a child with a DSD was perceived as a major medi-
cal and social problem by most parents, irrespective of their socioe-
conomic and educational status. It was usually the mothers who bore
the brunt of societal reactions to the birth of a child with malformed
genitalia. Some of them felt, or were made to believe by the society
and family, that‘‘this is possibly a sin in the previous birth that they
had committed in the previous life.’’In two cases, husbands sought
divorce on this ground. The father of a child with DSD from Rajas-
than told us that in their community children with DSD were buried
alive in the past.
In some regions of India, people live in joint families, i.e., three or
more generations live together in one big building or very close to
each other in one neighborhood and provide good social support.
These families often include infertile couples and unmarried men.
We had the impression that such joint families were able to cope bet-
ter than nuclear families with the social and medical problems
related to DSD.
As a consequence of social factors and infra structural constraints,
many DSD cases first presented to our clinic not before adolescence
or even adulthood. Patients presenting during adolescence were con-
cerned about the lack of sexual development commensurate with the
gender of rearing [e.g., hirsutism in females with CAH, gynecomastia
in males with partial AIS (PAIS)] or about gender dysphoria. Some
patients with DSD presented much later during adulthood, for
instance, just before marriage or withthe primary complaint of infer-
tility.
Gender Bias
Parents of newborns with DSD often preferred male gender assign-
ment. The main reason for this was that, in India, males enjoy social
and economic independence. It is believed that a female should be
under the protection of the father, husband, or son during different
phases of her life. It is difficult for the family to get an infertile girl mar-
ried, as most marriages in India are arranged by parents. Therefore,
both parents and doctors tend to favor the assignment of 46,XY chil-
dren born with genital ambiguity (excluding those with complete AIS
[CAIS]) to the male gender.
Problems Related to Insufficient Training of Medical
Staff
When parents of a child with DSD sought medical advice at local
care facilities, some doctors referred these children to tertiary-care
Arch Sex Behav
123

centers with greater experience, but others told the parents not to
bother about the child’s genitalia now and to seek help later, if the
child did not undergo sexual development at pubertal age. Even
staff at hospitals with better resources sometimes made inappro-
priate decisions. For instance, two infants born in well-equipped
hospitals and recognized as ‘‘males’’ with genital abnormalities
(‘‘hypospadias’’in one case and‘‘bilaterally undescended testes’’in
the other) were discharged with the advice to return for surgery
later. Both infants developed persistent vomiting during the third
week of life. Ultrasound of the abdomen showed the presence of a
uterus, which subsequently led to a comprehensive investigation
for DSD.
In some cases, parents’ anxieties and concerns regarding com-
munication with family members and relatives led to surgery during
early infancy without a proper diagnosis. One such child’s mother
stated that, when learning of her child’s genital ambiguity, she told
the doctor that she could go home with the child only after correction
of the genital ambiguity, because her relatives who would visit to see
the child would look at the child’s genitalia. Consequently, feminiz-
ing surgery was performed during infancy, and the child was reared
as a girl. Yet, when the child was about 4 years old, the mother real-
ized that the child preferred to wear boys’ clothes and to play with
boys. She brought the child to our center for consultation at 8 years
of age, stating that the child was very unhappy to wear a girl’s uni-
form to school, and as soon as she returned from school, she would
change into boys’ clothes. Now, the child—with the parents’ endorse-
ment—wanted a reassignment to the male gender. Investigation at
this time revealed that one gonad had not been removed. In the
absence of earlier medical records, we speculated that the surgeon
must have suspected or diagnosed androgen insensitivity and left
one gonad in place for spontaneous breast development at puberty.
However, the comprehensive investigation at this time established
a diagnosis of steroid 5a-R2D.
Another child who had feminizing surgery during infancy pre-
sented with gender dysphoria at around 6 years of age. The parents
reported that they were not given sufficient information regarding
their child’s condition or prognosis prior to surgery. Again, this child’s
genetic studies revealed a diagnosis of 5a-R2D.
Stigmatization by Medical Staff
Some families faced humiliation because of uninformed birth atten-
dants and confusion regarding the assignment of gender. Lack of pri-
vacy and confidentiality related to the disclosure of patient informa-
tion was not uncommon. On one occasion, the gynecologist who
delivered a child with DSD by cesarean section declared the child to
be a hijra (see below). The anguished mother and family left the hos-
pital the next day. On another occasion, the hospital ward boy (i.e.,
the hospital attendant who is responsible for accompanying patients
when they need to be taken for medical investigations) and the ayah
(i.e., a female attendant) shared information regarding the uncer-
tainty of gender of one of our patients with DSD, and the child’s
genitalia became a matter of curiosity for other hospital staff. The
mother broke down while telling us that some of the hospital staff
looked at the child’s genitalia and laughed at them. Even at tertiary-
care hospitals such children were sometimes treated as a medical
curiosity. For instance, the father of one Burka-clad female from a
conservative Muslim family broke down while narrating the follow-
ing experience. This child, later diagnosed with PAIS, was brought at
the age of 13 years for genital ambiguity and primary amenorrhea to
the gynecology department of a tertiary-care hospital. She was made
to remove her clothes, and a group of doctors took photographs of her
genitalia with their mobile phones despite the child’s objections.
Parents were afraid to send children with DSD to school. They
felt that the ayah (female attendant) who would accompany chil-
dren to the toilet could spread the news about genital abnormalities
to others.
Hijra-Related Stigma and Fears
Hijra is one of many terms in South Asia that refer to individuals who
do not fit into the binary categories of male and female either somat-
ically (‘‘born hijras,’’i.e., individuals with a DSD) or behaviorally
(‘‘made hijras,’’similar to the concept of transgender in the West)
(Nanda, 1998). Some hijras undergo castration and/or penectomy,
although medical studies have shown the majority to be intact bio-
logical males (Kucheria, Ammini, & Taneja, 1988; Rehan, 2011).
In religious tradition, hijras have been anchored in the actions of
various Hindu gods and, as a consequence, they are believed to
have certain divine powers which gives them important functions
by performing dances or songs at life events such as weddings or
the birth of a male child, but also the power of ruin by a curse.
Socially, hijra is organized in a caste-like system (Nanda, 1998). In
2014, the Supreme Court of India directed the Central and State
Governments of India to treat them as a ‘‘third gender’’with full
human rights.
In line with the well-known interest of hijras to find new recruits
(Nanda, 1998), there is a widespread belief in some regions of India
that hijras take away children with a DSD. Such fears may prevent
the parents from seeking medical consultation during infancy. One
patient told us that their family had received a letter from an unknown
source stating that they knew the child was a hijra and that they would
Table 1 Numbers of patients with DSD grouped by age at the time of
initial evaluation
Age 46,XX DSD 46,XY DSD and
sex chromosomal DSD
\1 year 42 9
1–10 years 28 29
11–20 years 26 47
[20 years 7 16
Total 103 101
a
a
Not included in the table is one patient who sought medical advice at
14 years. He was told by his mother that a cat had bitten him when he was
a few weeks old. The details of the subsequent genital surgery were not
available. Examination at age 14 years revealed absence of both testes;
the phallus was normal
Arch Sex Behav
123

take away the child at an opportune moment. For many years sub-
sequently, the family lived in fear and did not take the child along to
any social function. Another patient’s father was advised by his
colleagues at work to give the child away to hijras. The mother of one
child with CAH had a relapse of depression and refused to feed her
child after a relative ridiculed her bysayingthatshehadgivenbirthto
a chakka (a derogatory Punjabi term for hijra). One mother left her
job as a college lecturer to make sure her child’s genitalia were not
seen by anyone; she kept her child’s medical problem secret, even
from her close family members.
Syndrome-Specific Findings
46,XX Congenital Adrenal Hyperplasia (CAH)
Most of our 102 patients with 46,XX CAH had been reared as
females; only 12 were reared as males. Some of the patients with
CAH reared as females exhibited tomboyish behavior during child-
hood; however, they seemed to adjust to the female role as they
grew older. One of our patients, who was initiated on glucocorti-
coids at age 17, developed a manic episode, for which she had to
undergo psychiatric treatment. Her family came from a small vil-
lage in Uttar Pradesh. The patient had been reared as a female, and
her parents were unaware of her medical problem until she was
10 years of age, when they noticed progressive hirsutism and
change of voice. At age 17 years when she came to our hospital,
there was no breast development and the patient had not attained
menarche. There was no history suggestive of acute adrenal insuf-
ficiency or hospitalization for dehydration. The patient was short,
had severe hirsutism and acne scars over her face. Genital exami-
nation revealed a phallus-like clitoris and a common urogenital
opening. She later told us that she could not contain her happiness,
when she noticed her female secondary sexual characteristics
developing, in line with her gender identity.
Children with simple virilizing forms of congenital adrenal hyper-
plasia (SV-CAH) often sought medical attention around puberty for
problems like lack of breast development, hirsutism, or primary amen-
orrhea. Therapeutic outcomes were good in these patients (Ammini
et al., 2002; Kulshreshtha, Eunice, & Ammini, 2012). Two com-
mon reasons mentioned for not seeking help earlier (in spite of being
aware of genital ambiguity) were social-stigma-related genital ambi-
guity and not knowing where to go for help.
Thestigmaassociatedwithvirilization and the importance of
fertility are illustrated by a woman with 46,XX CAH who presented
at this clinic at age 29 years, our oldest untreated patient reared
as female (Kulshreshtha et al., 2008). This patient had lost her mother
at the age of 4 years. She was the second child of her parents and had
three siblings, an older sister with CAH and a pair of twin sisters
younger than her. Her older sister was married at the age of 20 years,
but was subjected to frequent verbal and physical taunts by her in-
laws because she could not have children. They blamed her father
for marrying off an infertile girl. The father then offered one of the
younger twin sisters for marriage. Thus, two of the patient’s sisters
were married to the same man and lived in the same house. This had
a negative impact on the patient. She quit school and then pursued
various jobs. Later, she worked as a security officer, where she was
frequently ridiculed as a hijra. When coming to this clinic at the age
of 29 years, she said: ‘‘I want to be able to step out in public and
interact with others without the shame of being ridiculed. I would
get married only if I am able to conceive; otherwise, I would choose
to remain single.’’She was initiated on glucocorticoids, conceived
twice and underwent medical termination of both pregnancies. She
got married 2 years later to a widower with 3 children. When she
became pregnant with her first child, she told us:‘‘I am not eager to
have a child, but it is necessary to prove to the community that I can
do it.’’
All the untreated patients with CAH reared as females had a female
gender identity except one who changed to male gender at puberty.
This patient’s Prader staging at birth was not known, but the genital
examination during adolescence showed posterior labial fusion, a
common urogenital opening and phallus-like clitoris. The mother
of this child had won a local beauty pageant and was happy to have
a girl child. However, the child virilized while growing up: with
facial hair, a masculine voice, and increasing genital masculin-
ization. Initially, the family tried to cover up the facial hair growth
with cosmetic treatment. The child always felt unliked by her peers.
One day at the age of 11 years, the patient was chased by hijras, who
wanted the child to join them; at that time, the patient decided to live
as a male. He said that, although it was a struggle initially, the soci-
ety had accepted him, and he was more at peace now. During ado-
lescence, he had two girlfriends, with whom he engaged in sexual
relationships. At his most recent clinic contact, he was 22 years old,
worked in a supermall and expressed that he would like to bully the
kids who had made fun of him while he was young.
Of the 12 patients with 46,XX CAH who were reared as males, all
except one (who had presented during infancy with the salt-wasting
variant of CAH) presented after 3 years of age. Two were Prader
stage 4 and 10 were Prader stage 5. All developed a male gender iden-
tity. Three married as men. Two of these, aged 25 and 30 years, who
were diagnosed and treated, are living happily. The third patient had
presented with social problems related to his infertility.
One patient with 46,XX CAH reared as male presented at the age
of 34 years for infertility after 2 years of marriage. He was the only son
of his parents and worked as a shopkeeper. It was important for him to
marry, as his parents were growingoldandneededhelpforhouse-
hold work, which in that community would be done by the daughter-
in-law.Wewereabletomeethiswifeafewyearslater.Shetoldus
that she was taking up sanyas (i.e., giving up all wordly pleasures to
embark on a life-long journey channeled by a quest for spiritual ful-
fillment) and moving to an Ashram (i.e., a monastery for spiritual
healing and learning center, also a shelter for devotees of a particular
temple with which it is attached), but she will leave the family only
after finding another wife for her husband.
Arch Sex Behav
123

46,XY 5a-Reductase-2 Deficiency (5a-R2D)
Our sample included 12 patients with 5a-R2D who were older than
10 years of age at the initial evaluation. Of these, 11 were reared as
females. At puberty, all 11 had intact testes either in the inguinal
region or the labioscrotal folds. Most of them were unable to adjust
to the assigned female gender. This was apparent in their choice of
clothing, the games they played, the language they used to refer to
themselves, their choice of playmates, and their sexual attraction
toward females. Ten of these 11 opted for reasssignment to the
male gender. Only one opted for the female gender, and this patient
underwent gonadectomy after the diagnosis of 5a-R2D was made
at 13 years of age, when the presenting complaints were mainly
lack of female secondary sexual characteristics. She had detailed
clinical, molecular, hormonal, and psychological evaluation. The
testosterone/DHT ratio was[25, but molecular genetic studies did
not reveal any mutation in the 5a-R2D gene. The option of gender
reassignment to male was suggested, but the patient preferred to
retain her female identity. The masculine leanings of these patients
with 5a-R2D are illustrated by excerpts from several interviews
administered by the psychologist.
Patient 1:‘‘I always felt like a male and identified myself as one
but growing up was hard since I was forced to dress like a female
and socially present myself as one.’’
Patient 2:‘‘My mother thinks that I ought to stay at home and help
around with cooking and cleaning. I cannot even bear the thought of
it. I don’t mind running errands but being told to behave like a girl,
when I do not feel like one, is not something I can adhere to. Dif-
ficulty in conversing with the girls and being in female company
grew increasingly hard for me when in adolescence the girls would
start talking about things like attraction toward the opposite sex.’’
Patient 3:‘‘ When I would face derogatory remarks from some
family member or relative, I would quietly go to a corner and cry. I
felt I was a source of shame to my family members. They would
keep me away from social gatherings. After treatment and surgery,
I feel comfortable and more accepting of myself. There is nothing
to be ashamed of or to feel inadequate about anymore. Family edu-
cation regarding genital abnormalities and early counseling should
be provided to families who have a member with DSD so that the
family is supportive of the child and does not make the child feel
ashamed or defeated in life.’’
Another patient with 5a-R2D raised female, but self-identified
male, recalled a local doctor’s unkind words that were firmly etched
in the patient’s memory when the patient met him at the age of 9
years, accompanied by his father:‘‘This child is neither a male nor a
female, and there is no treatment for such a condition.’’Subsequently,
the patient became increasingly withdrawn and had sleepless nights.
His parents would exclude him from social functions, and he felt that
his physical condition was a source of stress and shame to them. In his
own words,‘‘Home was like a cagewhere my inner self was impris-
oned.’’ He pursued a higher education in the biological sciences
despite a low income, because he felt he might find an answer to his
condition there. When he had an ultrasound scan done for abdominal
pain, which revealed the absence of ovaries and uterus, but the
presence of testes in the inguinal region, he could finally understand
his male gender identity. He then sought medical attention at this
tertiary-care hospital and underwent surge ry at the age of 20 years. In
the postoperative period, he stated:‘‘This pain of surgery is much less
than the emotional pain I have endured all these years.’’ He pointed
out the negative connotations his identity problem evoked in society:
‘‘It is the will of God; it is the result of karma, which he must suffer.’’
He fondly remembered the support by his younger brother who
treated him as a male and used no female gender adjective to address
him, unlike the rest of the family who called the patient by the female
adjective ‘‘didi.’’ This patient advised that family education and
counseling should be provided so that family members are more
supportive and understanding of the needs of patients with DSD and
that such children should be included in all family activities.
46, XY Androgen Insensitivity (AIS)
Patients with CAIS developed a female gender identity with
the exception of one case (from Haryana), where we had difficulty
convincing the family to rear the child as female (Kulshreshtha
et al., 2009a,b). This patient, the youngest of 5 siblings after 3 female
siblings were born, was reared as a female until 11 years of age.
Abdominal exploration for pain revealed the presence of testes and
the absence of a uterus. Subsequently, the patient dressed like a
male. The mother of this child said that she (the patient) used to
behave like a boy much earlier; only after the surgery did the parents
realize that the child was a male with testes. The patient showed
high motivation to live as a male, with strong support from the
family. We explained to the family the prognosis, i.e., develop-
ment of gynecomastia as the patient grew older and the fact that
androgen therapy would not bring about facial hair growth and
other features of body virilization. Yet, the mother’s reasons for re-
assigning the patient to male were that, as a man, the patient could
remain with her in the same house without social stigma, even if
unmarried. By contrast, as a daughter, the patient would be expected
to be married off. As a female, the patient would be infertile, and
nobody wants to marry an infertile girl. Moreover, the mother
would be ridiculed by society, if she kept a daughter unmarried.
Our patients with PAIS showed intra- and inter-familial phe-
notypic heterogeneity (Joseph, Kulshreshtha, Mehta, & Ammini,
2011; Kulshreshtha et al., 2009a,b). In all of them, their gender
identity was concordant with the gender of assignment and rear-
ing. This was strikingly apparent in familial cases of PAIS who
were reared in different genders. Children with PAIS did not show
gender dysphoria, but had significant social and psychological
difficulties in adjusting to the constraints related to their medical
condition, regardless of gender of rearing. This often manifested as
depression, oppositional-defiant behavior, low self-esteem, etc.
(Joseph et al., 2013).
Children with PAIS raised as boys were concerned about
physical problems like gynecomastia, lack of facial hair, etc. A
patient with PAIS reared male said while waiting for mastectomy:
Arch Sex Behav
123

‘‘There are many times that I have broken down and cried. If this
surgery is done successfully, I would want to let go of my past and
start new. I want to go back to school to finish my education and get
a real job wherein I can make more money as compared to what I
earn now, so that I can add to my family’s income.’’
Children with PAIS reared as girls were worried about mar-
riage and fertility, and so were their parents. A woman with PAIS
who also had a sister with the same condition stated:‘‘My sister and
I often thought about our future. We did not see a possibility for
marriage for either of us. And apart from that we are concerned
about our parents and the treatment they would receive from the
relatives who would ask reasons as to why their two daughters of
marriageable age were still at home. Is this a curse from God for
something?’’
Gonadal Dysgenesis
All 13 children with gonadal dysgenesis developed a gender iden-
tity concordant with their gender of rearing.
Discussion
Children born with DSD faced multiple problems: medical, eco-
nomic, and psychosocial. For the clinician, DSD constitutes a com-
plex problem requiring special expertise in diagnosis and manage-
ment. Even after extensive investigations, an etiological diagnosis is
often not possible. Information regarding the natural history of DSD
is very limited, which makes it difficult to arrive at evidence-based
therapeutic decisions on issues like gender assignment and the tim-
ing of corrective surgery.
DSD knowledge among medical practitioners in India is fre-
quently suboptimal. Many patients who were examined by doctors
were advised to return for treatment after puberty. Some underwent
surgery without any investigations to determine the cause of the
DSD. Many parents of children with DSD did not receive adequate
information regarding the child’s condition or the uncertainties
regarding the child’s growth and development. Decisions regard-
ing therapeutic options were sometimes made by the treating clini-
cian alone.
The families’ limited health literacy and cultural diversity have
an impact on treatment decisions. Prevailing beliefs (e.g., preju-
dices and fears regarding hijras) deterred parents from seeking
help or compelled them to hide the fact that their child has a DSD.
In line with the fact that India is a male-dominated society, parents
wereoftenbiasedtowardrearingchildrenwithDSDasmales.
In conclusion, psychosocial issues are as important as medical
issues for the clinical management of patients with DSD. There is a
need to improve the understanding of DSD conditions and their
psychosocial implications among physicians, paramedical staff,
and other health professionals. Early psychoeducation needs to be
provided to the parents of a child with DSD, so that they can sup-
port their child in adjusting to any DSD-related challenges. More-
over, there is a need for education of the public at large about DSD
and to debunk any misconceptions and prejudices.
Acknowledgments Dr. Ammini passed away before this article went to
press. We would like to dedicate it to her memory.
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