Sexual ambiguity is a complex issue. An accurate diagnosis is essential
and may take some time. Sex of assignment must be based not only on the
underlying diagnosis and karyotype but also on the potential for adult sexual
function, fertility, and psychological health. For these reasons, input from
several specialties, including endocrinology, genetics, neonatology,
psychology, urology, and an ethicist, is important. All members of the team
must communicate adequately with each other. Parents must fully understand the
medical recommendation for sex assignment and required therapy. They must
wholeheartedly agree and support the assigned sex to avoid ambivalence, which
can lead to gender confusion and psychological trauma for the child.
Parents may be dealing with two major
categories of children presenting with this problem:
·
Virilized 46, XX females
–females look like male
·
Under virilized 46, XY males-
males look like female
The most common cause of sexual ambiguity in
newborns is congenital adrenal hyperplasia secondary to 21-hydroxylase
deficiency. Adrenal gland is situated above the kidneys and secretes several
hormones.
As a general rule, gonadal tissue containing Y
chromosomal material is at higher risk for development of malignancy.
When infant is born with ambiguous genitalia,
and the sex of the infant is uncertain, what next?
Accept the truth, cooperate with medical
professionals as further testing is necessary to determine the infant’s sex.
Explain all the relevant history during pregnancy that may help in a diagnosis.
Reference to more commonly understood birthdefects may be useful. Several days may be necessary to complete the testing
and a team will participate to make an accurate diagnosis and a considered recommendation.
Completion
of the birth certificate should not be postponed, and sex assignment should not
be delayed. Accept the sex assigned by Medical team.
What can cause genital ambiguity in newborn? Is
it preventable?
Drug ingestion, alcohol intake, and ingestion
of hormones during pregnancy can lead to such a situation. Hence
Maternal history is particularly important. Progestational (androgenic) therapy
used for threatened abortion or androgens for endometriosis during pregnancy
should be avoided as far as possible. If the mother has signs of excessive
androgen or parental family history for occurrence of ambiguity, neonatal deaths,
consanguinity, or infertility it can lead to sex disorders.
What is the extent of
problem?
The
most common cause of a virilised female is congenital adrenal hyperplasia
(CAH). Virilisation
may also be caused by maternal ingestion of androgens or synthetic progesterone
during the first trimester of pregnancy. The measurement increased ACTH in blood is useful
for making a diagnosis. These babies have female chromosomes with male outlook,
however they do have ovaries and uterus like any other female child.
An
undervirilized male (previously called male pseudo hermaphroditism) refers to a
male with female external genitalia. The abnormality may range from various
grades of feminisation to a completely female phenotype. Such disorders result
from deficient androgen stimulation of genital development and most often are
secondary to testosterone biosynthetic defects. These boys have male
chromosomes with female outward looks.
How the condition is diagnosed? What are the
tests done?
The diagnosis of the origin
of sexual ambiguity can rarely be made by examination alone, it is always
combined with a series of tests. Tests are directed to determining the presence or
absence of palpable gonads (presumably testes), the presence or absence of a
uterus, and the karyotype to allows classification of the infant as a virilized
female, an under virilized male, having a disorder of gonadal differentiation,
or having one of the
unclassified forms. Certain forms of
CAH may cause dehydration, hypertension, or areolar or genital
hyperpigmentation. Turner’s stigmata may be present, including webbed neck, low
hairline, and edema of hands and feet.
Radiographic studies are necessary to find out structural abnormalities
like the presence of gonads and other reproductive structures. Pelvic ultrasound
examination by qualified and experienced personnel should be performed as soon
as
possible to look for a uterus. The presence of gonads, fallopian tubes,
and a vaginal vault may also be determined. If necessary, a genitogram may be
performed to see the lower reproductive organs like presence of vagina and its extent.
Because 21-hydroxylase deficiency is a common cause of sexual ambiguity,
the level of 17-hydroxyprogesterone (17-OHP) should be assessed in all such
infants who do not have palpable gonads. Screening of newborns for CAH with
measurement of a 17-OHP level is now mandated in all 50 of the United States
and in many countries throughout the world. A karyotype is essential and must be obtained
expeditiously. Buccal smears are absolutely contraindicated because they are
inaccurate. In many laboratories, a karyotype can be completed within 48 to 72
hours.
Defects in testosterone
synthesis can be diagnosed by low testosterone levels with defect in its synthesis
pathway (from the level of enzymes block either in the adrenal or in testicular
pathways).
What is the role of parents in upbringing?
The decision about sex assignment must be carefully made, taking into
consideration each “level” of sex determination. Sex assignment also depends on
fetal sex hormone exposure, the potential for adult sexual function, and
psychological and cultural considerations. It is vital that parents completely
understand and support the decision because ambivalence about sex of rearing
may result in gender confusion and psychological trauma.
Virilized females are usually assigned a female sex. They have normal
ovaries as well as
müllerian structures and, with surgical correction and steroid
replacement, can have normal sexual function and achieve fertility. However,
severely virilized females should be assigned a male sex.
Undervirilized males are often infertile, and sex assignment has usually
been based on
phallic size. Adult social and fulfilling sexual function should be the
primary goals of gender assignment. If male sex assignment is contemplated, a
trial of depot testosterone (25 mg every 3-4 weeks) for 1 to 3 months indicates
whether phallic growth is possible.
In patients with gonadal dysgenesis and Y chromosomal material,
gonadectomy is necessary, and fertility is not possible. Internal duct
structure is also frequently deranged. Small phallic size usually leads to a
female sex assignment.
True hermaphrodites who have a unilateral ovary and uterine structures
may have spontaneous puberty and normal fertility and may be raised as females.
External genital size and structure may allow male assignment, but more
commonly, external genitalia are poorly virilized, and affected infants are
assigned a female sex.
What are the future prospective regarding
marriage, child bearing etc.?
Parents must understand that having normal
sexual performance does not correlate with reproductive ability. However,
physicians always give preference to sexual ability than childbearing
probability. Our aim in parenting is to give the child a sexual identity which
may contradict the genetic makeup and at places may force us to sacrifice the
gonads for future life.
We have much to learn about gender identity and must consider which
decisions may be made later than previously thought (e.g., surgery). Some
surgical interventions are cosmetic, and some affected patients have expressed
the wish to make the decisions in adolescence or adulthood. This field
challenges many of our perceptions of sex and gender and our role as
physicians. Although the infant with genital ambiguity presents a medical and
social emergency, decisions should be made carefully, cautiously, and with all
necessary biochemical and anatomic information available. Most important, the
multidisciplinary team approach must involve the parents in an open and honest
discussion of the options. In the end, it is the parents who come first
in decision making on sex assignment.
A
male child be with complete androgen insensitivity should be raised female. Complete androgen
insensitivity usually does not have suspicion of ambiguity in the new born
period or early childhood. Affected children grow as normal females until
puberty. They feminize with normal breast development at puberty because high
levels of testosterone are aromatized to oestrogen, but they have no pubic or
axillary hair and no menses because they lack uterus and ovaries. Gender identity
is usually female. Patients come to medical attention because of lack of menses
in adolescent period.
The
diagnosis is therefore frequently made when patients are in their middle to
late teens. If diagnosed early the testes should be removed to prevent cancer
and oestrogen therapy should start early. This therapy helps in developing the
vagina and performance as a female is not compromised.
Undervirilized
males traditionally,
infants with 5-alpha-reductase deficiency were raised as females until puberty,
then continued life as males, and, in some cases, achieved fertility. More
recently, however, the condition has been recognized early in life, and
affected males are now raised from infancy as boys.
Virilized
females are usually assigned a female sex. They have normal ovaries as well as
Uterus
and ovaries and, with surgical correction and steroid replacement, can have
normal sexual function and achieve fertility.
However,
severely virilised females should be assigned a male sex. They can perform
sexual function as a male but cannot reproduce as they don’t have male gonads.
Patients
with Y-related chromosomal or genetic disorders that cause mal development of
one or both testes are said to have gonadal dysgenesis. They present with
ambiguous genitalia and may have inadequate virilisation, uterus and vagina may
be present in such children. The Y-containing dysgenetic testes are at risk for
developing cancer and must be removed better reared as females.
How to deal with
infertility in such cases?
Fertility potentiality is decided by
karyotyping, presence of gonads and presence of uterus and vagina. Accordingly,
they can go for gamete donation programme or surrogacy. The decision has to be
taken after discussion with the couple.
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