Introduction: Most common adrenocortical biosynthetic defect is 21-hydroxylase deciency usually presenting as atypical genitalia at birth in girls and adrenal crisis in males at 2-3 weeks of age. We present to you a case series of congenital adrenal hyperplasia(CAH) with heterogeneous presentation at varied ages.Case 1:Thirty-six-day old baby presented with atypical genitalia, failure to thrive and shock. Laboratory evaluation revealed:hyperkalemia, hyponatremia, markedly elevated 17OH-progesterone(24200ng/dl)and karyotype 46XX.Case 2: One-year-4-month old boy known case of salt-wasting CAH who was on regular oral hydrocortisone and udrocortisone brought with the acute gastroenteritis. Investigations revealed elevated markers for sepsis, hypocortisolemia(1.37 mcg/dl) and high 17-OH-progesterone(588 ng/dl). Case 3: Five-year10-month old boy, known case of salt-wasting CAH on irregular medication and poor compliance presented with enlarged penile length. On evaluation his SMR staging=A1P3TV4/4ml, Height age:7.6 year and bone-age was 11.6 years. Endocrine evaluation demonstrated gonadotropinindependent precocity(Testosterone=109ng/dl, FSH=0.31 IU/ml, LH<0.10 IU/ml, 17-OH-Progesterone:25400ng/dl).Scrotal ultrasound showed hypoechoic areas in rete-testis suggestive of probable tesicular-adrenal-rest-tumor(TART).All patients were treated with hydrocortisone, udrocortisone and uid resuscitation.Conclusion:Diagnosis of CAH doesn't always depend on atypical genitalia. Continued adherence to the optimal dose of steroids, regular monitoring and strict advice during illness is as important as appropriate and timely management of the adrenal crisis.
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