Congenital Adrenal Hyperplasia- X Syndrome-Fallacies and Its Diagnosis

Congenital Adrenal Hyperplasia- X (CAH-X) is a syndrome characterised by musculoskeletal symptoms alongside those due to 21-hydroxylase deficiency. Diagnosis of this syndrome requires a high suspicion in patients with CAH, as this requires special genetic techniques like MLPA (Multiplex Ligation-dependent Probe Amplification) and Sanger sequencing for its diagnosis. This case report depicts a similar case of a child with 21-hydroxylase deficiency with challenges in diagnosis due to confounding factors in the measurement of 17-hydroxy progesterone, like hyperbilirubinemia. The clinical-exome sequencing showed no pick-up of CAH-X. Sanger sequencing was done subsequently in view of high suspicion, yielding the result of CAH-X syndrome. The syndrome needs early recognition for management of associated symptoms and also for preventive measures for future symptoms contemplated.