ABSTRACT
Background: Congenital Adrenal Hyperplasia (CAH) is a rare condition
usually referred to as a group of genetic disorders resulting due to a
deficiency of steroid enzymes required by adrenal glands to produce
cortisol and mineralocorticoid hormones. It has an autosomal recessive
mode of inheritance and is further categorized into two types - Classic
& Non-Classic. Non-Classic CAH is a more common milder form that
presents late after puberty. Classic CAH, although more severe, is rare
and detected at birth and is associated with the life-threatening
adrenal crisis in both sexes and virilization of the external genitalia
in females (46, XX) patients whereas in males no overt abnormality of
the external genitalia is present.
Case presentation: We present a case of a four-month-old male child with
the classic form of CAH who was brought with complaints of loose stools,
projectile non bilious vomiting, decreased urine output, and failure to
feed for three days. The child had a clinical presentation of salt
wasting with hypoglycemia and hyperpigmentation of his genitalia. The
USG findings revealed increased Anteroposterior diameter of renal pelvis
indicative of a growth in the suprarenal area. 17-hydroxyprogesterone
(17-OHP) was found to be elevated confirming the diagnosis. He was
treated with hydrocortisone with gradual improvement in his glucose and
electrolytes. The patient was discharged home on replacement therapy
consisting of oral prednisolone and fludrocortisone acetate and followed
up as outpatient with significant improvement in the clinical findings.
Conclusion: The fact that the child was not screened for CAH at birth
led to the critical consequences of the disease in this case. To prevent
life-threatening adrenal crisis and help perform appropriate sex
assignments for affected female patients, newborn screening (NBS)
programs for the classical form of CAH should be made mandatory even in
low and middle-income countries.