The invited paediatric endocrinologist, geneticist, and the medical evaluator of the steroid hormone laboratory summarised a male karyotype (46, XY), no hypogonadotropic hypogonadism, excretion of premature precursors of the adrenal steroid hormones in the urine, and male serum levels of anti-Mullerian hormone (AMH) indicating testes (step 4). The gene discussed is AMH; the disease is hypogonadotropic hypogonadism.