Pituitary-Testicular Function in Nephropathic Cystinosis

• DOI: 10.7326/0003-4819-119-7_part_1-199310010-00004
• Publication Date: 2013-04-11T21:07:21Z
• Authors: Constance L. Chik; Aaron Friedman; George R. Merriam; William A. Gahl
• Keywords: Cystinosis; Gonadotropin; Human chorionic gonadotropin

Objective: To evaluate reproductive function in patients with cystinosis and renal transplant recipients without cystinosis. Design: Cross-sectional study. Setting: Clinical Center, National Institutes of Health. Patients: Ten male patients, 15 to 28 years old, nephropathic allografts formed the study group; 11 who had a primary disorder other than were matched for age served as control group. Measurements: Tanner staging, serum gonadotropin determinations, testosterone testosterone-binding globulin assessments. Selected also human chorionic (HCG) stimulation test, gonadotropin-releasing hormone (GnRH) serial sampling luteinizing (LH). Main Results: Although levels within normal limits 7 10 cystinosis, mean level was 11.5 2.0 nmol/L compared 24.2 3.0 (P < 0.005). No patient reached stage 5 (full pubertal development), whereas 9 did. Seven elevations LH or follicle-stimulating (FSH) levels, suggesting testicular failure. These FSH responses after GnRH stimulation, increased pulse frequency, reduced response HCG stimulation. In comparison, only 3 minimally elevated all levels. Microscopic examination one showed cystine crystals, germinal dysplasia, fibrosis, Leydig cell hyperplasia. Conclusions: Abnormalities pituitary-testicular axis are common changes appear be related disease not treated failure per se.