Case with Small Testes Associated with Skeletal Dysplasia

We report an 18-year-old Japanese male with severe short stature and small testes. The endocrinological examination showed high plasma FSH value and normal plasma LH value, consistent with impaired spermatogenesis, and a skeletal X-ray survey suggested systemic bone dysplasia. Analysis of DAZ and FSH receptor genes was not confirmatory of the cause of defects in the seminiferous tubule maturation in this patient. The unique association of impaired spermatogenesis and skeletal dysplasia in the patient has not previously been described.