Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia

BACKGROUND. Cartilage-hair hypoplasia (CHH), an autosomal recessive chondrodysplasia, is characterized by severe growth failure, hypoplastic hair, impaired immunity, and deficient erythropoiesis. These features may result from a generalized defect in cell proliferation. AIM. In order to investigate whether an impairment of cell proliferation is present in spermatogenesis, we analysed fertility in a clinical and laboratory study of adult males with CHH. METHODS. Eleven adult males (median age 29 years, range 21-49 years) with CHH were included in the study. The patients were examined clinically for testicular volume and other clinical characteristics. Blood samples were collected to determine serum concentrations of sex hormones, sex hormone-binding globulin, inhibin B and gonadotrophins (basal and gonadotrophin-releasing hormone-stimulated). Semen samples were analysed for volume, sperm concentration, motility, morphology, and antibody status. RESULTS. The testicular size was subnormal in some patients, but the serum concentrations of testosterone, inhibin B and gonadotrophins were usually normal. The semen analyses were not within normal limits in any of the patients, as indicated by low sperm concentration, decreased motility and Jor morphological changes. CONCLUSIONS. The defect in cell proliferation in men with CHH also involves the spermatogenic cells and is evident as an impairment of spermatogenesis.