Degros V, Cortet-Rudelli C, Soudan B, Dewailly D
Service d'Endocrinologie et de Diabetologie, Clinique Marc Linquette, 6, rue du Professeur Laguesse, 59037 Lille cedex, France.
Eur J Endocrinol. 2003 Jul;149(1):23-9. doi: 10.1530/eje.0.1490023.
The effectiveness of biological investigations aiming at discriminating isolated hypogonadotropic hypogonadism (IHH) from constitutional delayed puberty (CDP) in male patients is still controversial. We revisited the diagnostic power of the basal serum testosterone level, the Triptorelin test and the human chorionic gonadotropin (hCG) test in a cohort of 33 boys with delayed puberty.
Boys were aged 14.2 to 26.2 Years at referral. A 5-Year-long clinical follow-up after the initial study allowed confirmation of the diagnosis. At the end of the follow-up period, IHH was found in 13 patients while the other 20 had normal spontaneous pubertal development (CDP).
At referral, a basal morning testosterone level >1.7 nmol/l was observed in 55% of patients with CDP exclusively (predictive positive value (PPV)=100%; predictive negative value (PNV)=59%). For CDP, the PPV of the LH peak 3 h after Triptorelin was 100% by setting the upper threshold at 14 IU/l and the PNV was 72%. However, no lower threshold could discriminate IHH from CDP in the remaining patients with an LH peak 3 h after Triptorelin <14 IU/l. In CDP patients, the PPV of the serum testosterone increment after hCG stimulation (deltaT/hCG) was 100% for values >9 nmol/l (PNV=72%). In IHH patients, the PPV of deltaT/hCG was 100% for values <3 nmol/l (PNV=82%). Only 29% of the studied population had a deltaT/hCG between these lower and upper thresholds and therefore could not have been classified initially.
(i) Dynamic testing for the diagnosis of delayed puberty is useful only when the basal testosterone level is lower than 1.7 nmol/l; (ii) in that case, the hCG test has better discriminating power than the Triptorelin test and appears as the best cost-effective investigation. It prevents useless and expensive investigations in about one-half of CDP patients with a basal morning testosterone level lower than 1.7 nmol/l.
旨在区分男性患者中孤立性促性腺激素缺乏性性腺功能减退（IHH）与体质性青春期延迟（CDP）的生物学检查的有效性仍存在争议。我们重新评估了基础血清睾酮水平、曲普瑞林试验和人绒毛膜促性腺激素（hCG）试验对一组33例青春期延迟男孩的诊断价值。
转诊时男孩年龄为14.2至26.2岁。初始研究后进行为期5年的临床随访以确诊。随访期末，13例患者被诊断为IHH，另外20例有正常的自发青春期发育（CDP）。
转诊时，仅55%的CDP患者基础晨睾酮水平>1.7 nmol/l（预测阳性值（PPV）=100%；预测阴性值（PNV）=59%）。对于CDP，曲普瑞林注射后3小时LH峰值的PPV为100%（设定上限阈值为14 IU/l），PNV为72%。然而，在曲普瑞林注射后3小时LH峰值<14 IU/l的其余患者中，没有更低的阈值能够区分IHH和CDP。在CDP患者中，hCG刺激后血清睾酮增加值（deltaT/hCG）>9 nmol/l时的PPV为100%（PNV=72%）。在IHH患者中，deltaT/hCG<3 nmol/l时的PPV为100%（PNV=82%）。仅29%的研究人群的deltaT/hCG在这些上下限阈值之间，因此最初无法进行分类。
（i）仅当基础睾酮水平低于1.7 nmol/l时，动态试验对青春期延迟的诊断才有用；（ii）在这种情况下，hCG试验比曲普瑞林试验具有更好的鉴别能力，并且似乎是最具成本效益的检查。它可避免约一半基础晨睾酮水平低于1.7 nmol/l的CDP患者进行无用且昂贵的检查。
