A one-week-old baby was brought to our outpatient department by her
father and grandmother, with the complaint of ambiguous genitalia. She
was the first offspring of a non-consanguineous couple from low
socioeconomic strata. The baby was lethargic, hyperpigmented, and had
clitoromegaly and partial labial fusion. Baby was hospitalized with
provisional diagnosis of congenital adrenal hyperplasia (CAH). Blood
test revealed acidosis, hyponatremia and hyperkalemia. Further
investigations confirmed the diagnosis: ultrasonography showed ovaries
and mullerian structures, serum 17-hydroxy progesterone (17OHP) was >200
ng/mL, and karyotype was 46,XX. Both parents were educated till middle
school level. They were explained that the baby was a girl with normal
internal reproductive organs; genitoplasty would be required to correct
the ambiguity; and regular medication and follow-up were required. The
baby was discharged on oral hydrocortisone, fludrocortisone and salt
supplement.
After 10 days of discharge, the baby was again
brought to our emergency services, with complaints of vomiting,
lethargy, refusal to feed and respiratory distress. She was in
hypovolemic shock. This time the baby was brought as a new case with a
new name by a kinnar (transgender), who identified herself as the
legal guardian of the baby. She carried an affidavit signed by both
parents that the baby had been given to her willingly. The kinnar
told us that she and her group were taking very good care of the baby.
However, they had not been told about the need for regular medicines by
the parents, and therefore the baby had not received the steroid
supplementation for the last week. We called up the father (taking his
telephone number from admission records), and asked him about the child.
On his replying that the baby was well, we confronted him with the facts
and called both parents to the hospital. The mother stayed with the baby
and did seem to have an emotional bonding with the baby, but both
parents were very young, and completely dependent on the paternal
grandparents. Three senior consultants from Pediatrics and two from
Pediatric Surgery were involved in the counseling. We spoke to the
family multiple times, to the mother, father, and both sets of
grandparents, singly as well as together, in tones ranging from coaxing
to authoritative, and explaining to them scientifically as well as
socially, invoking their conscience, giving a very positive outlook for
the child and telling them about how well the girls with CAH in our
follow-up were doing. Considering that ambiguity was the main hurdle to
the parents accepting the baby, our pediatric surgeons agreed to carry
out an early genitoplasty for the baby prior to discharge from the
hospital. The parents and grandparents, however, kept changing their
stand, agreeing to keep the baby on one day, and declining on the next.
After hospitlization for about three weeks, we were
convinced that the family would not take care of the baby and in all
probability, will either give away the baby to the kinnars or do
something even worse. In consultation with our medical social service
officer, the parents were asked to legally relinquish the baby to child
welfare unit. The baby was then placed in a government-recognized
orphanage. She was brought to OPD regularly by the caregivers and it was
heartening to observe her steady growth and development over the next 9
months. Finally, the child has been legally adopted by an American
couple, who according to their written submission, had already initiated
enquiries for CAH support groups and Pediatric endocrinology and surgery
facilities in their city, and were looking forward to welcoming the baby
as their child.
For a patient with CAH, the outlook for successful
sexual and reproductive life in adulthood depends upon the endocrine
control and the cosmetic and functional results of genitoplasty [1]. Our
case serves to bring to the fore the plight faced by numerous infants
with ambiguous genitalia. Previously too, we have encountered families
who never returned for follow-up after the initial diagnosis. Many of
our CAH patients’ parents have informed us about the social stigma faced
by them and the child, from within their extended families and from
peers [2]. Few have even had to separate from their joint families to be
able to take care of their children. Many of them have had to rebuff
attempts made by kinnar groups to force them to give away their
children [2].
There is an urgent need to have patient support
groups for newly diagnosed children with CAH. Additionally, a registry
of children with CAH should be maintained at national or state level,
preferably along with implementation of universal newborn screening for
CAH, so that affected individuals can be tracked and not allowed to slip
between fault lines. Meanwhile, pediatricians who see these patients for
the first time should also record their phone numbers and addresses, and
ensure that the patients remain in follow-up. For families that are
completely unwilling to come to terms with the diagnosis, the option of
legal relinquishment and placement of baby in a recognized adoption
agency may be exercised as a last resort.
1. Gupta DK, Shilpa S, Amini AC, Gupta M, Aggarwal G,
Deepika G, et al. Congenital adrenal hyperplasia: Long-term
evaluation of feminizing genitoplasty and psychosocial aspects. Pediatr
Surg Int. 2006;22:905-9.
2. Bhakhri BK, Jain V. Congenital adrenal
hyperplasia: as viewed by parents of affected children in India – a
pilot study. J Pediatr Endocrinol Metab. 2011; 24:959-63.