Introduction: Testicular regression syndrome (TRS) or vanishing testis syndrome is a rare condition defined as the absence of testicular tissue in a genetic and phenotypic male. Rudimentary accessory structures can be present; in that case, the removal of all remnants is recommended.
Case report: Male patient, 39 years old, had initially been evaluated at the age of 8 for persistent bilateral cryptorchidism. The medical documents are lacking except for a brief description of the laparoscopical surgical exploration of the abdomen and inguinal area, with no testicular or accessory tissue being found. The patient received parenteral androgen replacement only for a few months in the pubertal period. At the age of 14 a schizoaffective disorder (paranoid schizophrenia) was diagnosed. The psychiatrist recommended neuroleptics and strongly advised against the androgen replacement which was stopped and not resumed ever since. At the time of the referral to our department the patient was 39 years old. He had no subjective complaints. The clinical examination revealed a 182 cm-tall phenotypical male with eunuchoid habitus, absent facial and truncal hair. No testes were palpable in the undeveloped scrotum or the inguinal canal. Bilateral gynecomastia was present. The psychical status was stable under neuroleptics. After the endocrine evaluation, severe primary hypogonadism was diagnosed. The antimullerian hormone serum level was undetectable. The karyotype was 46, XY. The bone mass was unaffected. Topical androgen replacement was recommended but it aggravated the psychotic aggressive features so the psychiatrist team taking care of the patient contraindicated it.
Conclusion: We present the case of a patient with testicular regression syndrome, with no surgically evident wolffian rudiments, associating from early adolescence a severe psychiatric pathology with aggressive tendencies which constantly precluded adequate testosterone replacement until the current age of 42.