Martinez-Aguayo A, Rocha A, Rojas N, García C, Parra R, Lagos M, Valdivia L, Poggi H, Cattani A
Endocrinology Unit, Department of Pediatrics, Pontificia Universidad Católica de Chile, 833-0074, Santiago, Chile.
J Clin Endocrinol Metab. 2007 Dec;92(12):4583-9. doi: 10.1210/jc.2007-0383. Epub 2007 Sep 25.
Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest tumors (TART) that may originate during childhood.
Our objective was to describe the prevalence of TART and Sertoli and Leydig cell function in a group of boys aged 2-10 yr with CAH and to compare prevalence with that of a control group.
From August 2005 to January 2007, 19 patients with classical CAH (CAH group) were referred from seven endocrinology centers.
We studied 19 subjects in the CAH group and, as a control group, 13 boys from the community that did not have testicular diseases. A complete physical exam was performed. High-resolution ultrasound was used to determine TART prevalence. Inhibin B and anti-Müllerian hormone were used as Sertoli cell markers. The ratio between basal testosterone levels and testosterone levels 72 h after beta-human chorionic gonadotropin (5000 U/m2) treatment [(T72- T0)/T0] was used to evaluate Leydig cell response.
CAH and control groups were comparable in chronological age (5.9 vs. 5.6 yr; P = 0.67) and bone age/chronological age ratio (1.09 vs. 1.03; P = 0.09). TART prevalence was four of 19 (21%) in the CAH group. Lower values for inhibin B (49.2. vs. 65.2 pg/ml; P = 0.018), anti-Müllerian hormone (70.1 vs. 94.2 ng/ml; P = 0.002), and (T72- T0)/T0 (5.6 vs. 13.6; P < 0.01) were observed in the CAH group.
TART in prepubertal males with classic CAH could be found during childhood. We also report differences in markers of gonadal function in a subgroup of patients, especially in those with inadequate control.
先天性肾上腺皮质增生症（CAH）成年男性患者中观察到的不育与可能在儿童期起源的睾丸肾上腺残余肿瘤（TART）有关。
我们的目的是描述一组2至10岁CAH男孩中TART的患病率以及支持细胞和间质细胞功能，并与对照组的患病率进行比较。
2005年8月至2007年1月，从7个内分泌中心转诊了19例经典型CAH患者（CAH组）。
我们研究了CAH组中的19名受试者，并作为对照组，研究了13名来自社区且无睾丸疾病的男孩。进行了全面的体格检查。使用高分辨率超声确定TART患病率。抑制素B和抗苗勒管激素用作支持细胞标志物。基础睾酮水平与β-人绒毛膜促性腺激素（5000 U/m2）治疗72小时后的睾酮水平之比[（T72 - T0）/T0]用于评估间质细胞反应。
CAH组和对照组在实际年龄（5.9岁对5.6岁；P = 0.67）和骨龄/实际年龄比（1.09对1.03；P = 0.09）方面具有可比性。CAH组中19人中有4人（21%）患有TART。CAH组中抑制素B（49.2对65.2 pg/ml；P = 0.018）、抗苗勒管激素（70.1对94.2 ng/ml；P = 0.002）和（T72 - T0）/T0（5.6对13.6；P < 0.01）的值较低。
青春期前经典型CAH男性中的TART可在儿童期发现。我们还报告了部分患者性腺功能标志物的差异，尤其是那些控制不佳的患者。
