Julia Rohayem1, Lena Maria Bäumer1, Michael Zitzmann1, Susanne Fricke-Otto2, Klaus Mohnike3, Bettina Gohlke4, Felix Reschke5, Claus Jourdan6, Herman L Müller7, Désirée Dunstheimer8, Johannes Weigel9, Norbert Jorch10, Elke Müller-Rossberg11, Erwin Lankes12, Imke Gätjen13, Annette Richter-Unruh14, Berthold P Hauffa15, Sabine Kliesch1, Aniko Krumbholz16, Jürgen Brämswig17. 1. Department of Clinical and Surgical Andrology, Center of Reproductive Medicine and Andrology, University of Münster, Münster, Nordrhein-Westfalen, Germany. 2. Department of Pediatric Endocrinology and Diabetes, Helios-Klinikum Krefeld, Krefeld, Nordrhein-Westfalen, Germany. 3. Department of Pediatric Endocrinology and Diabetes, University of Magdeburg, Children's Hospital Magdeburg, Magdeburg, Sachsen-Anhalt, Germany. 4. Department of Pediatric Endocrinology and Diabetes, Children's Hospital Bonn, University of Bonn, Bonn, Nordrhein-Westfalen, Germany. 5. Department of Pediatric Endocrinology and Diabetes, Children's Hospital Dresden, University of Dresden, Dresden, Sachsen, Germany. 6. Department of Pediatric Endocrinology and Diabetes, Children's Hospital Herford, Herford, Nordrhein-Westfalen, Germany. 7. Department of Pediatrics and Pediatric Hematology and Oncology, Children's Hospital Oldenburg, University of Oldenburg, Oldenburg, Niedersachsen, Germany. 8. Department of Pediatric Endocrinology and Diabetes, Children's Hospital Augsburg, University of Augsburg, Augsburg, Bayern, Germany. 9. Pediatric Endocrinology practice, Augsburg, Bayern, Germany. 10. Department of Pediatrics, Evangelisches Klinikum Bethel, Bielefeld, Nordrhein-Westfalen, Germany. 11. Department of Pediatric Endocrinology and Diabetes, Children's Hospital, Esslingen, Baden-Württemberg, Germany. 12. Department of Pediatric Endocrinology and Diabetes, Children's Hospital, Charity, University of Berlin, Berlin, Germany. 13. Pediatric Endocrinology practice, Bremen, Germany. 14. Department of Pediatric Endocrinology and Diabetes, Children's Hospital, University of Bochum, Bochum, Nordrhein-Westfalen, Germany. 15. Department of Pediatric Endocrinology and Diabetes, Children's Hospital, University of Essen, Essen, Nordrhein-Westfalen, Germany. 16. Institute for Doping Analytics and Sports Biochemistry, Dresden, Sachsen, Germany. 17. Department of Pediatric Endocrinology and Diabetes, Children's Hospital, University of Münster, Münster, Nordrhein-Westfalen, Germany.
Abstract
OBJECTIVE: To study the impact of the quality of therapeutic control on fertility and on the prevalence of testicular adrenal rest tumours (TART) in young males with congenital adrenal hyperplasia (CAH). DESIGN: Combined cross-sectional and retrospective clinical study. METHODS: Twenty-nine patients and age-matched controls underwent clinical investigation, including semen analysis, testicular and adrenal ultrasound imaging, and serum and hair steroid analysis. The quality of therapeutic control was categorized as 'poor', 'moderate' or 'medium'. Evaluation of current control was based on concentrations of 17-hydroxy-progesterone and androstenedione in serum and 3 cm hair; previous control was categorized based on serum 17-hydroxy-progesterone concentrations during childhood and puberty, anthropometric and puberty data, bone age data and adrenal sizes. RESULTS: Semen quality was similar in males with CAH and controls (P = 0.066), however patients with 'poor' past control and large TART, or with 'poor' current CAH control had low sperm counts. Follicle-stimulating hormone was decreased, if current CAH control was 'poor' (1.8 ± 0.9 U/L; 'good': 3.9 ± 2.2 U/L); P = 0.015); luteinizing hormone was decreased if it was 'poor' (1.8 ± 0.9 U/L; P = 0.041) or 'moderate' (1.9 ± 0.6 U/L; 'good': 3.0 ± 1.3 U/L; P = 0.025). None of the males with 'good' past CAH control, 50% of those with 'moderate' past control and 80% with 'poor past control had bilateral TART. The prevalence of TART in males with severe (class null or A) CYP21A2 mutations was 53% and 25% and 0% in those with milder class B and C mutations, respectively. CONCLUSIONS: TART development is favoured by inadequate long-term hormonal control in CAH. Reduced semen quality may be associated with large TART. Gonadotropin suppression by adrenal androgen excess during the latest spermatogenic cycle may contribute to impairment of spermatogenesis.
OBJECTIVE: To study the impact of the quality of therapeutic control on fertility and on the prevalence of testicular adrenal rest tumours (TART) in young males with congenital adrenal hyperplasia (CAH). DESIGN: Combined cross-sectional and retrospective clinical study. METHODS: Twenty-nine patients and age-matched controls underwent clinical investigation, including semen analysis, testicular and adrenal ultrasound imaging, and serum and hair steroid analysis. The quality of therapeutic control was categorized as 'poor', 'moderate' or 'medium'. Evaluation of current control was based on concentrations of 17-hydroxy-progesterone and androstenedione in serum and 3 cm hair; previous control was categorized based on serum 17-hydroxy-progesterone concentrations during childhood and puberty, anthropometric and puberty data, bone age data and adrenal sizes. RESULTS: Semen quality was similar in males with CAH and controls (P = 0.066), however patients with 'poor' past control and large TART, or with 'poor' current CAH control had low sperm counts. Follicle-stimulating hormone was decreased, if current CAH control was 'poor' (1.8 ± 0.9 U/L; 'good': 3.9 ± 2.2 U/L); P = 0.015); luteinizing hormone was decreased if it was 'poor' (1.8 ± 0.9 U/L; P = 0.041) or 'moderate' (1.9 ± 0.6 U/L; 'good': 3.0 ± 1.3 U/L; P = 0.025). None of the males with 'good' past CAH control, 50% of those with 'moderate' past control and 80% with 'poor past control had bilateral TART. The prevalence of TART in males with severe (class null or A) CYP21A2 mutations was 53% and 25% and 0% in those with milder class B and C mutations, respectively. CONCLUSIONS: TART development is favoured by inadequate long-term hormonal control in CAH. Reduced semen quality may be associated with large TART. Gonadotropin suppression by adrenal androgen excess during the latest spermatogenic cycle may contribute to impairment of spermatogenesis.
Authors: C Gusmano; R Cannarella; A Crafa; F Barbagallo; S La Vignera; R A Condorelli; A E Calogero Journal: J Endocrinol Invest Date: 2022-07-17 Impact factor: 5.467