OBJECTIVE: To evaluate reproductive function in patients with cystinosis and in 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, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal disorder other than cystinosis and were matched with study patients for age and renal function served as the control group. MEASUREMENTS: Tanner staging, serum gonadotropin determinations, and testosterone and testosterone-binding globulin assessments. Selected patients also had a human chorionic gonadotropin (HCG) stimulation test, a gonadotropin-releasing hormone (GnRH) stimulation test, and serial sampling for luteinizing hormone (LH). MAIN RESULTS: Although testosterone levels were within normal limits in 7 of 10 patients with cystinosis, the mean testosterone level in patients with cystinosis was 11.5 +/- 2.0 nmol/L compared with 24.2 +/- 3.0 nmol/L in control patients (P < 0.005). No patient with cystinosis reached Tanner stage 5 (full pubertal development), whereas 9 of 11 control patients did. Seven of 10 patients with cystinosis had elevations in LH or follicle-stimulating hormone (FSH) levels, suggesting testicular failure. These patients also had normal LH and FSH responses after GnRH stimulation, increased LH pulse frequency, and reduced testosterone response after HCG stimulation. In comparison, only 3 of 11 control patients had minimally elevated gonadotropin levels, and all 11 had normal testosterone levels. Microscopic testicular examination in one patient showed cystine crystals, germinal dysplasia, increased fibrosis, and Leydig cell hyperplasia. CONCLUSIONS: Abnormalities in the pituitary-testicular axis are common in male patients with cystinosis. These changes appear to be related to the disease cystinosis and not to treated renal failure per se.
OBJECTIVE: To evaluate reproductive function in patients with cystinosis and in 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, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal disorder other than cystinosis and were matched with study patients for age and renal function served as the control group. MEASUREMENTS: Tanner staging, serum gonadotropin determinations, and testosterone and testosterone-binding globulin assessments. Selected patients also had a human chorionic gonadotropin (HCG) stimulation test, a gonadotropin-releasing hormone (GnRH) stimulation test, and serial sampling for luteinizing hormone (LH). MAIN RESULTS: Although testosterone levels were within normal limits in 7 of 10 patients with cystinosis, the mean testosterone level in patients with cystinosis was 11.5 +/- 2.0 nmol/L compared with 24.2 +/- 3.0 nmol/L in control patients (P < 0.005). No patient with cystinosis reached Tanner stage 5 (full pubertal development), whereas 9 of 11 control patients did. Seven of 10 patients with cystinosis had elevations in LH or follicle-stimulating hormone (FSH) levels, suggesting testicular failure. These patients also had normal LH and FSH responses after GnRH stimulation, increased LH pulse frequency, and reduced testosterone response after HCG stimulation. In comparison, only 3 of 11 control patients had minimally elevated gonadotropin levels, and all 11 had normal testosterone levels. Microscopic testicular examination in one patient showed cystine crystals, germinal dysplasia, increased fibrosis, and Leydig cell hyperplasia. CONCLUSIONS: Abnormalities in the pituitary-testicular axis are common in male patients with cystinosis. These changes appear to be related to the disease cystinosis and not to treated renal failure per se.
Authors: Martine T P Besouw; Maria Van Dyck; Inge Francois; Elke Van Hoyweghen; Elena N Levtchenko Journal: Pediatr Nephrol Date: 2012-06-05 Impact factor: 3.714
Authors: Koenraad R Veys; Kathleen W D'Hauwers; Angelique J C M van Dongen; Mirian C Janssen; Martine T P Besouw; Ellen Goossens; Lambert P van den Heuvel; Alex A M M Wetzels; Elena N Levtchenko Journal: JIMD Rep Date: 2017-04-13
Authors: Francesco Emma; Galina Nesterova; Craig Langman; Antoine Labbé; Stephanie Cherqui; Paul Goodyer; Mirian C Janssen; Marcella Greco; Rezan Topaloglu; Ewa Elenberg; Ranjan Dohil; Doris Trauner; Corinne Antignac; Pierre Cochat; Frederick Kaskel; Aude Servais; Elke Wühl; Patrick Niaudet; William Van't Hoff; William Gahl; Elena Levtchenko Journal: Nephrol Dial Transplant Date: 2014-09 Impact factor: 5.992
Authors: Amer Jamalpoor; Charlotte Agh van Gelder; Fjodor A Yousef Yengej; Esther A Zaal; Sante P Berlingerio; Koenraad R Veys; Carla Pou Casellas; Koen Voskuil; Khaled Essa; Carola Me Ammerlaan; Laura Rita Rega; Reini En van der Welle; Marc R Lilien; Maarten B Rookmaaker; Hans Clevers; Judith Klumperman; Elena Levtchenko; Celia R Berkers; Marianne C Verhaar; Maarten Altelaar; Rosalinde Masereeuw; Manoe J Janssen Journal: EMBO Mol Med Date: 2021-06-24 Impact factor: 12.137