VN was born to non-consanguineous parents of Indonesian descent. They gave birth to two sons who were both hyperpigmented at birth and passed away at a young age in Indonesia. VN’s parents emigrated to Australia prior to his birth and at birth, VN was hyperpigmented. Investigations revealed biochemistry consistent with primary adrenal insufficiency (PAI). He was commenced on hydrocortisone and fludrocortisone. Six years after VN’s birth, his parents had another son, also noted to be hyperpigmented, diagnosed with PAI, and managed similarly. VN was born with normal genitalia and at age 12, was pre-pubertal and commenced andriol 40mg daily. In response, he developed stage 3-4 pubic hair and his voice deepened. His testes remained small and soft although they did increase in size to 6mls. Andriol was ceased after 6 months, in the hope that spontaneous puberty would occur. However, this did not progress and at age 13 he commenced Sustanon 100mg monthly. As an adult, he reached a height of 161.7cm tall, with his weight fluctuating from 73kg to 120kg (BMI 27 to 49 kg/m2). He is normally virilised with slightly small testicles (10mls bilaterally). Given his family history, targeted genetic testing was performed, specifically, DAX-1, on the short arm of the X chromosome associated with the X-linked form of PAI - was sequenced. He was found to have a missense mutation in the DAX-1 gene, being hemizygous in exon 2 for a sequence variant c. 1274G>C predicted to result in the amino acid substitution of arginine for a threonine at position 425. He remains on hydrocortisone 20mg mane, 10mg nocte, fludrocortisone 300 mcg daily and Reandron 1g/4ml 3 monthly. He is working as an IT specialist, is single, sexually active, reports good libido and is not currently seeking fertility.