How the Birth of a Girl Child with Congenital Adrenal Hyperplasia Changed the Mother’s Life: A Case Study

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that disturbs the process of adrenal steroidogenesis. A variety of symptoms are produced in the body of children born with this disease. In a girl child, the genitalia is ambiguous with an elongated clitoris and fusion of labia which makes it difficult to declare the gender at birth or mistakenly declared as male. Parents often go through a variable period of uncertainty about the gender of their child. Although most families adjust with time, some blame the mother for giving birth to a child with such abnormality. The present study was undertaken in the form of a case study on the mother of a girl child with CAH enrolled from Pediatric Endocrinology OPD, PGIMER, Chandigarh. The current case study highlights the effect of a female born with CAH on the life of a mother. Although the child was well managed on treatment, due to the stigma attached to the condition, was abandoned by the father.