A Novel Homozygous Mutation in Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.

One of the causes of congenital adrenal insufficiency, a genetically heterogeneous disorder is a mutation in the CYP11A1 gene, which is responsible for the initiation of steriodogenesis by converting cholesterol to pregnenolone. In a now 3 years and 3 months-old girl, adrenal insufficiency was diagnosed in the neonatal period. Clinical exome sequencing for primary adrenal insufficiency revealed a homozygous p.Thr330Met (c.989C>T) variant in the CYP11A1 (NM_000781) gene. Different types of inheritance patterns have been observed in -related adrenal insufficiency cases. We consider our case is an due to an autosomal recessive inheritance.