Slipped capital femoral epiphysis in a patient with the vanishing testes syndrome — ASN Events

Slipped capital femoral epiphysis in a patient with the vanishing testes syndrome (#316)

Santhi Chalasani 1 , Shihab Hameed 1 2 3 4 , Bernard Champion 1 3
  1. Endocrinology, Nepean Hospital, Sydney, NSW, Australia
  2. Endocrinology, Sydney Children's Hospital, Sydney, NSW, Australia
  3. University of Sydney, Sydney, NSW, Australia
  4. University of NSW, Sydney, NSW, Australia

A 19 year old male presented with a four day history of reduced mobility, 2 weeks of severe left hip pan, 8 months of left knee pain, and a two year history of limp. There was no history of trauma and an x-ray of the left knee 5 months earlier was unremarkable. His past medical history was significant for primary hypogonadism secondary to bilateral anorchia. At birth, the right testis was absent. By age 4, both testes were absent. A laparoscopy performed at age 7 revealed a hypoplastic vas deferens and no testes were visualized. He had a normal male karyotype. At the age of 13, blood tests revealed a testosterone of 1.1 nmol/L (1.0-3.5), FSH of 128 IU/L (0.2-5.4), and LH of 27.7 IU/L (0.3-7.6). Following HCG stimulation there was an insignificant rise of testosterone. He was commenced on oral androgen replacement therapy but was lost to follow up.

On examination his left leg was shortened and externally rotated. His weight was 77kg, height 177.5cm, Tanner stage 2 genitalia, and eunuchoid appearance. An x-ray revealed a left slipped capital femoral epiphysis. Further blood tests revealed an undetectable AMH (5-136) and delayed bone age of 15 years. He underwent operative management and was discharged 6 weeks later on androgen replacement therapy.

Bilateral congenital anorchia is the complete absence of testicular tissue in a genetic and phenotypic male. An ipsilateral testis must be present until 15 weeks gestation for a male phenotype to develop. The subsequent disappearance of the testes may be related to compromise of vascularization during testicular descent, genetic factors, or underlying endocrinopathy. Androgen replacement therapy results in normal pubertal growth. Delay in therapy results in delayed closure of epiphyses. This case highlights a rare cause of primary hypogonadism and its association with slipped capital femoral epiphysis.

  1. Aynsley-Green A et al. Congenital bilateral anorchia in childhood: A clinical, endocrine, and therapeutic evaluation of twenty-one cases. Clin Endocrinol 1976;5:381-391.
  2. Bernasconi S et al. Congenital Anorchia: Natural History and Treatment. Horm Res 1992;37 (suppl 3): 50-54.
  3. Abeyaratne WA et al. The vanishing testis. Lancet 1969;2:822-824.
  4. Melmed S et al. Williams Textbook of Endocrinology, 12th Ed. Philadelphia: Elsevier Saunders; 2011: 730.
  5. Huff DS et al. Evidence in favour of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenesis of testicular agenesis. J Urol 1991;146:630-631.
  6. Pirgon O et al. Vanishing Testes: A Literature Review. J Clin Res Pediatr Endocrinol 2012; 4(3):116-120.