Summary

A 42-year-old African man presented with hypogonadic phenotypical features, including gynoid body distribution, gynaecomastia, absent facial and truncal hair and micropenis. He denied ever experiencing development of male secondary sex characteristics. Endocrine testing revealed hypergonadotropic hypogonadism and undetectable AMH. Human chorionic gonadotropin (hCG) stimulation test failed to increase testosterone levels. Peripheral blood karyotype was 46, XY. Clinical examination and abdominal/pelvic/scrotal ultrasound and MRI failed to identify any testicular structures/remnants. Given the clinical course and the biochemical–radiological presentation, the diagnosis of bilateral anorchia was made (after more than four decades of its probable onset), and surgical exploration was decided against. The patient was subsequently started on monthly intramuscular testosterone experiencing progressive normal virilisation.