A Clinical Case of Ambiguous Genitalia in A New Born

Introduction: Ambiguous genitalia, also called as atypical genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex.Methodology: a 20 days old baby came in OPD with persistent vomiting and dehydration. She had hypernatremia, hypokalemia, cardiac arrhythmia. Genital examination showed ambiguous genitalia. Karyotyping report XY genotype. With conservative management she recovered and went home but returned back in emergency within few days in poor condition. There was severe depletion of serum potassium level and persistent arrhythmia for which the baby was transferred to NICU and put on ventilator. The baby finally died due to persistant arrythmiaResult: on first admission the baby had hypokalemia (2.6 mmol/L), hypernatremia (168 mEq/L), moderate dehydration and metabolic acidisis (pH 7.31, Bicarbonate 18 mmol/L). Baby managed conservatively and Discharged. On 2nd admission the baby had poor general condition, persistant metabolic acidosis (pH 7.28 and Bicorbonate 12 mmol/L) and persistant hypokalemiaConclusion: with all the above findings we can conclude that the baby was suffering from congenital adrenal hyperplasia probably due to 17 alpha hydroxylase deficiency.