The management of patients with ambiguous
genitalia has long been governed by several
principles.1-3 First, to avoid stigmatization of the
patient, gender assignment should be made as quickly as possible,
preferably before hospital discharge.2,3 Second, a primary
consideration in assigning gender should be the prognosis for future
sexual function and fertility.2,3 Given that the prognosis is known for some causes of intersexuality, the likelihood of fertility
can be deduced by diagnosis of the underlying condition. Third, gender
assignment has been strongly influenced by John Money and co-workers'
proposal4-8 that gender identity at birth is highly
malleable. Money emphasized the importance of early and unambiguous
gender assignment.
Current pediatric endocrinology textbooks continue to include phallus
size among the important considerations in assigning gender in the
newborn with ambiguous genitalia. Phallus size <1.5 cm at
term9 is considered inadequate for development of a
functional penis (ability to have intercourse and to urinate standing
up). Given that reconstructive surgery aimed at achieving functional
female genitalia is considered the more effective alternative, XY
intersexual patients with microphallus and testes are often assigned
female gender. According to Money's approach, unambiguous presentation
of gender identity to the patient's parents and, later, to the patient
would ensure the likelihood of a good outcome. However, there have been
few reports of long-term follow-up on the stability of gender
reassignment for XY children born with functional testes and androgen
receptors.
Recently Diamond and Sigmundson10 reported on the
long-term outcome in the case of John/Joan. This case of a normal male
infant whose penis was ablated during circumcision, and who was
subsequently raised female, provided early support for Money's ideas.
However, the patient ultimately reassigned his own gender during
adolescence, leading Diamond and Sigmundson to propose alternative
principles for the management of intersexual children and of boys
suffering from penile trauma.11 Shortly after Diamond's
case report, Bradley et al12 reported another case of
ablatio penis at the age of 2 months. Gender reassignment was made at 7 months, and the gender identity of the patient remained female as of 26 years of age. An additional case report in the pediatric
literature13 also describes long-term outcome in an XY
intersex child. The condition was undetected at birth and the patient
was raised as a female, but later in the teen years declared herself a
boy. This case supports Diamond's contention that the apparent sex of
rearing does not suffice to determine gender identity later in life.
In the present report we describe the case of an XY intersexual with
microphallus who was assigned female gender shortly after birth. The
patient was raised as a female, but the patient reassigned himself as
male during adolescence.
 |
CASE REPORT |
Baby G's presentation in the newborn period has been reported
previously.14 The patient's mother took
diphenylhydantoin throughout pregnancy. The infant was born at
38 weeks and was immediately recognized as having ambiguous genitalia.
The phallus was considered to be consistent with a diagnosis of either
micropenis or an enlarged clitoris, with a urethral opening at its
base. A measure of phallus length was not reported. Gonads were
palpated bilaterally in what appeared to be labia majora. No uterus was palpable on rectal examination. The newborn also exhibited several dysmorphic features, including hypertelorism, a depressed nasal bridge,
and hypoplastic nails of both the hands and feet. These features were
felt to be consistent with fetal hydantoin syndrome.15
Based on the small phallus size, female gender was assigned on day 4 of
life. Chromosome analysis revealed a 46XY karyotype. A cystourethrogram
showed a normal bladder, no deformities of the urethra, and no mass
between the posterior aspect of the bladder and anterior wall of the
rectum. Human chorionic gonadotropin stimulation test was
interpreted as indicating normal gonadal steroid production and normal
5
-reductase activity. No change in phallus size in response to human
chorionic gonadotropin was noted. A trial of testosterone was
not undertaken. The parents recall being told at birth that the patient
had ambiguous genitalia. On day 4 of life, female gender was assigned
and the parents were informed that the patient (she) had testes that
needed to be removed because of the risk of malignancy. They were
advised to raise the patient as a girl, and were reassured that their
child would identify herself as a girl. Years later, the patient's
mother said that she fully accepted the patient as female. However, the mother did not recall being made aware of the karyotype result. At the
age of 3 weeks, bilateral gonadectomy and labial skin biopsy were
performed. Pathology revealed normal infantile testes. At the age of 1 year, the patient's physical examination showed only a slightly
enlarged clitoris.
At age 10, the patient was started on estrogen replacement therapy. At
age 16, she was evaluated by a gynecologist in preparation for surgery
to create a functional vagina. Physical examination showed an enlarged
clitoris (approximately 6 cm in length) and normal adrenarche. It was
at this visit that the patient first questioned her doctors about her
diagnosis. Because she did not find the information available from her
parents to be sufficient, she began to seek information to better
understand her condition. She decided to discontinue estrogen therapy
and, at this point, was referred to our group. After our initial
discussion she declared herself male and changed her name. With our
assistance, she obtained insurance approval for mammoplasty to remove
the mature breasts that had developed in response to exogenous
estrogen. The patient was started on testosterone replacement. He
responded to testosterone with an increase in phallus length from 6.0 to 7.5 cm. Throughout this time, his mother supported his decision. She
sought professional counseling for herself and the patient. Conversely,
the patient's father did not accept the patient's decision. The
mother's support of the patient contributed to dissolution of his
parents' marriage.
A retrospective history revealed that the patient had, according to his
mother, always "acted like a boy." His play had always been
aggressive, and he always displayed an interest in toys that his mother
considered more appropriate for a boy. Friends and family had always
described the patient as a "tomboy." He related feeling like a
"boy trapped in a girl's body" since early childhood.
| |
DISCUSSION |
The last several decades have seen marked progress in
understanding the developmental biology of sexual differentiation.
However, much less progress has been made in understanding what
determines gender identity. Gender identification is a complex
biological and psychological process that most certainly has prenatal
and postnatal components, although the relationship between prenatal biological processes and postnatal psychological influences is not
understood. Furthermore, there are insufficient long-term clinical data
to allow understanding of the relative importance of prenatal and
postnatal influences, especially in humans. Money has long contended
that the brain is malleable at birth with regard to gender
identity.4-8 He has vigorously counseled against
sex reassignment after toddler age if at all possible.16
As noted above, Diamond et al10 recently reported
long-term follow-up in a male infant with ablatio penis and female gender reassignment. Initial reports indicated that the reassignment had been successful.7 This report was accepted as evidence that individuals are psychosexually neutral at birth, and that healthy
psychosexual development is largely dependent on the appearance of the
external genitalia combined with unambiguous sex of rearing. Only after
20 years did it become known that this patient had self-reassigned his
gender as male.10 Additional case reports by Reiner et
al,13 and by Gooren and Cohen-Kettnis17 described XY intersexuals raised unambiguously as females who later
sought sex reassignment as males. Taken together with the present
report, these cases indicate that early sex assignment as female does
not ensure female gender self-identification in XY infants with female
external genitalia. To explain these results, Diamond and Sigmundson
cite animal studies indicating that the brain is not psychosexually
neutral at birth, and that the hormonal milieu in utero may
affect brain development. However, the role of in utero hormone
exposure in determining gender identity is by no means established, as
little information exists on the nature and timing of hormone exposure
in the fetal human brain.
Approximately 1 in 1000 to 2000 newborns are considered
ambiguous enough to warrant genital surgery.18 The
prospective studies required to define the lifelong consequences of
gender assignment in these patients have not yet been performed. Thus, individual cases have been highly influential in determining practice. Equally important are data indicating that patients with microphallus assigned male gender may have a better outcome regarding sexual function than would generally be anticipated. Reilly and
Woodhouse19 showed that a group of patients diagnosed with
micropenis in infancy, when reevaluated after completion of puberty,
had a high frequency of normal, heterosexual function. Bin-Abbas et
al20 similarly report a favorable outcome in boys with
micropenis secondary to fetal testosterone deficiency who were treated
with testosterone during infancy or childhood.
In light of the accumulating long-term follow-up data (as described
above), our experience with the present case stimulated us to
reconsider and modify our approach to gender assignment in male
pseudohermaphrodites. Overall, our current practices coincide with
Diamond and Sigmundson's recommendations.11 Most notably,
our experience has led us to conclude that the sex of assignment should
be based on the underlying diagnosis, even if sex of rearing may not
coincide with size and functionality of the phallus. Whenever possible,
reconstructive genital surgery should be delayed until the patient's
gender identity can be incorporated into the decision-making process.
In addition, we have undertaken to provide complete and realistic
information to families regarding the potential uncertainty inherent in
assigning gender in cases of newborns with sexual ambiguity. We
recognize the critical importance of long-term counseling for the
child with genital ambiguity and his or her family. We also recognize
that Diamond and Sigmundson's recommendations and our own decision to
adopt a change in our clinical approach to patients born with ambiguous
genitalia will remain controversial until long-term follow-up data are
available.
Top
Introduction
Discussion
References
, and
why sex reversal is not indicated.
J Pediatr.
1999;
134:579-583 [CrossRef][Medline]
