Late presentation of lipoid congenital adrenal hyperplasia in a phenotypic male

Lipoid congenital adrenal hyperplasia (LCAH) is a rare autosomal recessive disorder arising from a mutation in the steroidogenic acute regulatory ( STAR ) gene. In this case report, we present a 9.5-year-old male child who presented with hyperpigmentation and normal male external genitalia. He was diagnosed with primary adrenal insufficiency and whole exome sequencing revealed a homozygous mutation in the STAR gene consistent with LCAH and clinically fitting into the non-classical category corresponding to >10–20% residual enzymatic activity. It is noteworthy to see that our case had a much later presentation in childhood compared to the usual presentation between 2 and 4 years of age.