Endocrine Abstracts (2009) 20 P308

Hypergonadotropic hypogonadism due to vanishing testis syndrome: case report

Selma B Souto, Daniel Carvalho-Braga & José Luís Medina

Endocrinology Department, São João Hospital, Porto, Portugal.

Introduction: Anorchia or vanishing testis syndrome is defined as the absence of testicular tissue in genetic and phenotypic males. To establish this diagnosis certain criteria must be present, namely non palpable testis during examination under anaesthesia and blind ending spermatic vessels visualized within the retroperitoneu, or the spermatic vessels and vas deferens exiting a closed internal inguinal ring. Bilateral congenital anorchia affects one in 20 000 males.

Case report: Man, 21 years old, has been referred to the outpatient clinic when he was 13 years old, due to non palpable bilateral testis. Serum testosterone level was low (<10 ng/dl) with increased levels of LH(29.26 mUI/ml) and FSH (120.48 mUI/ml). The chromosomal analysis discloses a 46, XY karyotype. He underwent a surgical exploration laparoscopy, where no testis were found, followed by a bilateral inguinal exploration that showed the spermatic vessels and vas deferens exiting a closed internal inguinal ring. The diagnosis of vanishing testis syndrome was then established and where implanted testicular prostheses. The remnants were removed and underwent pathologic examination, which identified the presence of tissue compatible with vas deferens; no viable germ cell elements were identified. The patient is nowadays under androgen replacement therapy.

Discussion: There is controversy regarding the optimal management of the testicular remnant associated with the vanishing testis syndrome. Some urologists suggest surgical exploration, either via laparoscopy or an inguinal/scrotal approach, whereas others believe these procedures are unnecessary. These different opinions are based on the differences in the reported incidence of viable germ cell elements within these remnants and the subsequent concern for future malignant degeneration.

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