Department of Clinical and Surgical Andrology, Center of Reproductive Medicine and Andrology, University of Münster, Münster, Nordrhein-Westfalen, Germany.
Department of Pediatric Endocrinology and Diabetes, Helios-Klinikum Krefeld, Krefeld, Nordrhein-Westfalen, Germany.
Eur J Endocrinol. 2021 Apr;184(4):487-501. doi: 10.1530/EJE-20-1154.
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).
Combined cross-sectional and retrospective clinical study.
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.
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.
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.
研究治疗控制质量对患有先天性肾上腺增生症（CAH）的年轻男性生育能力和睾丸肾上腺残余肿瘤（TART）发生率的影响。
联合横断面和回顾性临床研究。
29 名患者和年龄匹配的对照组接受了临床调查，包括精液分析、睾丸和肾上腺超声成像以及血清和毛发类固醇分析。治疗控制质量分为“差”、“中”或“中”。当前控制的评估基于血清和 3 厘米头发中的 17-羟孕酮和雄烯二酮浓度；以前的控制基于儿童期和青春期的血清 17-羟孕酮浓度、人体测量和青春期数据、骨龄数据和肾上腺大小。
CAH 男性的精液质量与对照组相似（P = 0.066），但过去控制差且 TART 较大的患者，或当前 CAH 控制差的患者精子计数较低。如果当前 CAH 控制差（1.8 ± 0.9 U/L；“好”：3.9 ± 2.2 U/L），则卵泡刺激素降低（P = 0.015）；如果控制差（1.8 ± 0.9 U/L；P = 0.041）或“中等”（1.9 ± 0.6 U/L；“好”：3.0 ± 1.3 U/L；P = 0.025），黄体生成素降低。过去 CAH 控制良好的男性中没有一个人，过去控制中等的男性中有 50%，过去控制差的男性中有 80%有双侧 TART。在 CYP21A2 突变严重（类 null 或 A）的男性中，TART 的发生率为 53%，在突变较轻的类 B 和 C 中分别为 25%和 0%。
TART 的发生是由于 CAH 长期激素控制不足所致。精液质量下降可能与较大的 TART 有关。最后一个精子发生周期中肾上腺雄激素过多抑制促性腺激素可能导致精子发生受损。
