Feyaerts Axel, Forest Maguelone G, Morel Yves, Mure Pierre-Yves, Morel-Journel Nicolas, Mallet Delphine, Nicolino Marc, Chatelain Pierre, David Michel, Mouriquand Pierre
Department of Pediatric Urology, and INSERM U329, Biochimie Endocrinienne et Métabolique, Hôpital Debrousse, Hospices Civils de Lyon, Lyon, France.
J Urol. 2002 Aug;168(2):720-5; discussion 725.
Various endocrine studies performed in the hypospadias population show an unsatisfactory response to the human chorionic gonadotropin (HCG) test and abnormal androgen biosynthesis with possible enzyme defects. We evaluated the incidence of disorders in androgen production in boys with isolated hypospadias.
A total of 32 consecutive children (46,XY) with hypospadias were prospectively enrolled in the study. Severity of the defect was assessed with a new classification based on the location of the division of the corpus spongiosum. Endocrine evaluation consisted of measuring luteinizing hormone, follicle-stimulating hormone, anti-müllerian hormone (AMH), testosterone, dihydrotestosterone, progesterone, 17alpha-hydroxypregnenolone, 17alpha-hydroxyprogesterone, dehydroepiandrosterone sulfate and delta4-androstenedione. In all but 3 patients gonadal stimulation with 1,500 IU HCG every other day for 12 days was performed and steroid concentrations were reassessed after the test. An adrenocorticotropic hormone test was performed in 2 patients and molecular study of the androgen receptor was performed in 28.
An increase to 37.37 nmol./l. progesterone (normal 0.1 to 0.5) and 17alpha-hydroxyprogesterone to 25.48 nmol./l. (normal 1.18 +/- 0.66) before HCG stimulation was noted in 1 patient. These abnormal results were not found after HCG stimulation but reappeared after the adrenocorticotropic hormone test. This result might be related to a partial mix of 17alpha-hydroxylase/17,20-lyase deficiency but no mutation was found after complete sequencing of gene CYP17. Of the 32 patients 4 had an insufficient response to HCG stimulation (testosterone less than 10 nmol./l.), including 1 with a low AMH level of 180 pmol./l. (normal 451 +/- 198) and an increased dehydroepiandrosterone sulfate level of 1,995 nmol./l. (normal 59 +/- 41) before HCG stimulation. Partial androgen insensitivity was suspected in 1 patient because he had a high testosterone response (29.96 nmol./l.) after HCG stimulation but no mutation of the gene of the androgen receptor was detected. Two patients with proximal hypospadias had isolated decreased AMH levels, which was evidence of Sertoli cell insufficiency.
Although our series of 32 patients had several abnormal endocrine screenings, these results indicate no significant endocrine defects.
在尿道下裂患者中进行的各种内分泌研究显示，对人绒毛膜促性腺激素（HCG）试验的反应不理想，雄激素生物合成异常，可能存在酶缺陷。我们评估了孤立性尿道下裂男孩雄激素产生障碍的发生率。
共有32例连续的尿道下裂患儿（46,XY）前瞻性纳入本研究。根据海绵体分裂部位采用新的分类法评估缺陷的严重程度。内分泌评估包括测量促黄体生成素、促卵泡生成素、抗苗勒管激素（AMH）、睾酮、双氢睾酮、孕酮、17α-羟孕烯醇酮、17α-羟孕酮、硫酸脱氢表雄酮和δ4-雄烯二酮。除3例患者外，其余患者每隔一天接受1500IU HCG性腺刺激，持续12天，并在试验后重新评估类固醇浓度。对2例患者进行了促肾上腺皮质激素试验，对28例患者进行了雄激素受体的分子研究。
1例患者在HCG刺激前孕酮升高至37.37nmol/L（正常0.1至0.5），17α-羟孕酮升高至25.48nmol/L（正常1.18±0.66）。这些异常结果在HCG刺激后未发现，但在促肾上腺皮质激素试验后再次出现。该结果可能与17α-羟化酶/17,20-裂解酶部分缺乏有关，但在对CYP17基因进行完全测序后未发现突变。32例患者中有4例对HCG刺激反应不足（睾酮低于10nmol/L），其中1例AMH水平低至180pmol/L（正常451±198），在HCG刺激前硫酸脱氢表雄酮水平升高至1995nmol/L（正常59±41）。1例患者疑似部分雄激素不敏感，因为他在HCG刺激后睾酮反应较高（29.96nmol/L），但未检测到雄激素受体基因突变。2例近端尿道下裂患者AMH水平单独降低，这是支持细胞功能不全的证据。
虽然我们这组32例患者有多项内分泌筛查异常，但这些结果表明无明显内分泌缺陷。
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