Gonadal function in adult male patients with congenital adrenal hyperplasia-Reference-Cited by-同舟云学术

Gonadal function in adult male patients with congenital adrenal hyperplasia

Published:2018-03 Issue:3 Volume:178 Page:285-294
ISSN:0804-4643
Container-title:European Journal of Endocrinology
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Author:

Engels M¹²,Gehrmann K³,Falhammar H⁴⁵,Webb E A⁶⁷,Nordenström A⁸,Sweep F C²,Span P N⁹,van Herwaarden A E²,Rohayem J¹⁰,Richter-Unruh A¹⁰,Bouvattier C¹¹,Köhler B³,Kortmann B B¹²,Arlt W⁶⁷,Roeleveld N¹³,Reisch N¹⁴,Stikkelbroeck N M M L¹⁵,Claahsen-van der Grinten H L¹,_ _,_ _,Cohen-Kettenis Peggy,de Vries Annelou,Wiesemann Claudia,Slowikowska-Hilczer Jolanta,Brac de la Perriere Aude,Sultan Charles,Paris Francoise,Thyen Ute,Pienkowski Catherine,Szarras-Czapnik Maria

Affiliation:

1. 1Department of Pediatrics, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands

2. 2Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, the Netherlands

3. 3Klinik für Pädiatrie m.S. Endokrinologie und Diabetologie, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

4. 4Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden

5. 5Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden

6. 6Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, UK

7. 7Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

8. 8Department of Women’s and Children’s Health, Division of Pediatric Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

9. 9Department of Radiation Oncology, Radiotherapy & OncoImmunology laboratory, RIMLS, Radboud University Medical Center, Nijmegen, the Netherlands

10. 10Centre of Reproductive Medicine and Andrology, Clinical Andrology, University Hospital Münster, Münster, Germany

11. 11Endocrinologie Pédiatrique, Centre de Référence des Maladies Rares du Développement Sexuel, Hôpital Bicêtre, Université Paris-Sud, Le Kremlin-Bicêtre, France

12. 12Department of Pediatric Urology, Radboud University Medical Center, Nijmegen, the Netherlands

13. 13Department for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands

14. 14Medizinische Klinik IV, Klinikum der Universität München, München, Germany

15. 15Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands

Abstract

Context Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. Objective To determine gonadal function in men with CAH within the European ‘dsd-LIFE’ cohort. Design Cross-sectional clinical outcome study, including retrospective data from medical records. Methods Fourteen academic hospitals included 121 men with CAH aged 16–68 years. Main outcome measures were serum hormone concentrations, semen parameters and imaging data of the testes. Results At the time of assessment, 14/69 patients had a serum testosterone concentration below the reference range; 7 of those were hypogonadotropic, 6 normogonadotropic and 1 hypergonadotropic. In contrast, among the patients with normal serum testosterone (55/69), 4 were hypogonadotropic, 44 normogonadotropic and 7 hypergonadotropic. The association of decreased testosterone with reduced gonadotropin concentrations (odds ratio (OR) = 12.8 (2.9–57.3)) was weaker than the association between serum androstenedione/testosterone ratio ≥1 and reduced gonadotropin concentrations (OR = 39.3 (2.1–732.4)). Evaluation of sperm quality revealed decreased sperm concentrations (15/39), motility (13/37) and abnormal morphology (4/28). Testicular adrenal rest tumor (TART)s were present in 39/80 patients, with a higher prevalence in patients with the most severe genotype (14/18) and in patients with increased current 17-hydroxyprogesterone 20/35) or androstenedione (12/18) serum concentrations. Forty-three children were fathered by 26/113 patients. Conclusions Men with CAH have a high risk of developing hypothalamic-pituitary-gonadal disturbances and spermatogenic abnormalities. Regular assessment of endocrine gonadal function and imaging for TART development are recommended, in addition to measures for fertility protection.

Publisher

Bioscientifica

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

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