Abstract 101: A case of CYP11A1 enzyme deficiency with unambiguity

We hereby present a 20 years old boy who presented at 14 years of age with generalized hyperpigmentation, bilateral breast enlargement, loose stools and fever. He was born out of second-degree consanguinity with uneventful birth and childhood history. On examination he had generalized hyperpigmentation, gynecomastia, no genital ambiguity with normal sexual maturity ratings. Blood biochemistry was suggestive of primary adrenal insufficiency and primary testicular failure. The computerized tomography imaging showed normal adrenal glands. With involvement of both adrenal glands and gonads, differential diagnosis including autoimmune polyglandular syndrome, NR5A1 and NR0B1 mutations were considered. Clinical exome sequencing was done which showed a novel homozygous missense variation in exon 4 of the CYP11A1 gene (chr15:g.74343895G>C). A diagnosis of side chain cleavage enzyme (CYP11A1) deficiency unusually presenting with genital unambiguity was made.