Semen quality and testicular adrenal rest tumor development in 46,XY congenital adrenal hyperplasia - the importance of optimal hormonal replacement

in European Journal of Endocrinology
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  • 1 J Rohayem, Clinical and Operative Andrology, University Hospital Münster Centre of Reproductive Medicine and Andrology, Münster, Germany
  • 2 L Bäumer, Clinical and Operative Andrology, University Hospital Münster Centre of Reproductive Medicine and Andrology, Münster, Germany
  • 3 M Zitzmann, Clinical and Operative Andrology, University Hospital Münster Centre of Reproductive Medicine and Andrology, Münster, Germany
  • 4 S Fricke-Otto, Pediatric Endocrinology, HELIOS Klinikum Krefeld, Krefeld, 47805, Germany
  • 5 K Mohnike, Department of Pediatrics, Otto von Guericke Universitat Magdeburg, Magdeburg, 39120, Germany
  • 6 B Gohlke, Pediatric Endocrinology, University of Bonn, Bonn, Germany
  • 7 F Reschke, Pediatric Endocrinology, Dresden University Hospital, Dresden, Germany
  • 8 C Jourdan, Pediatric Endocrinology, Klinikum Herford, Herford, Germany
  • 9 H Müller, Dep. of Pediatrics, Klinikum Oldenburg Universitätsklinik für Kinder- und Jugendmedizin - Elisabeth-Kinderkrankenhaus, Oldenburg, Germany
  • 10 D Dunstheimer, University Children´s Hospital, University Hospital Augsburg, Augsburg, Germany
  • 11 J Weigel, Practice Dr. Weigel, Augsburg, Pediatric Practice, Augsburg, Germany
  • 12 N Jorch, Department of Pediatrics, Evangelisches Krankenhaus Bielefeld gGmbH, Bielefeld, Germany
  • 13 E Müller-Roßberg, Pediatric Endocrinology, Klinikum Esslingen, Esslingen, Germany
  • 14 E Lankes, Center for Chronic Sick Children, Pediatric Endocrinology and Diabetes, Charité Universitätsmedizin Berlin, Berlin, Germany
  • 15 I Gätjen, Practice Dr. I. Gätjen, Bremen, Pediatric Practice Bremen, Bremen, Germany
  • 16 A Richter-Unruh, Department of Pediatric Endocrinology and Diabetes, Ruhr-Universitat Bochum, Bochum, Germany
  • 17 B Hauffa, Pediatric Endocrinology and Diabetes, University Hospital Essen, Essen, Germany
  • 18 S Kliesch, Clinical and Surgical Andrology, University Hospital Münster Centre of Reproductive Medicine and Andrology, Münster, Germany
  • 19 A Krumbholz, Institute of Doping Analysis and Sports Biochemistry, Dresden University of Technology, Dresden, Germany
  • 20 J Bramswig, Pediatric Endocrinology, University of Münster, Munster, Germany

Correspondence: Julia Rohayem, Email: Julia.Rohayem@ukmuenster.de
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Objective: To study the impact of the quality of therapeutic control on fertility and on the prevalence of testicular adrenal rest tumors (TARTs) 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 TARTs, 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 TARTs. The prevalence of TARTs 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 TARTs. Gonadotropin suppression by adrenal androgen excess during the latest spermatogenic cycle may contribute to impairment of spermatogenesis.

 

     European Society of Endocrinology

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