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.