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Correspondence

Indian Pediatr 2017;54: 781-782

The Unusual Story of an Infant with Congenital Adrenal Hyperplasia

 

*Vandana Jain and Madhulika kabra

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
Email: [email protected]

  


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.

Acknowledgement: We acknowledge Mr. Dhaneshwar Yadav, Medical Social Service Officer, and Dr. Amit Satapathy, senior resident, Department of Pediatrics, AIIMS in the management and rehabilitation of this patient.

References

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.


 

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