Latyshev Oleg Yu, Brzhezinskaya Lubov B, Okminyan Goar F, Kiseleva Elena V, Pykov Mikhail I, Kasatkina Elvira P, Samsonova Lubov N
Russian Medical Academy of Continuous Professional Education.
Probl Endokrinol (Mosk). 2020 Jun 10;65(6):417-424. doi: 10.14341/probl10339.
The problem of differential diagnosis of constitutional delay of puberty/CDP and hypogonadotropic hypogonadism/HH in boys is discussed, as boys have similar genetic mechanisms and appearance.
to determine accuracy of the criteria for the differential diagnosis of CDP and HH.
The study included 56 boys 14.4±0.7 years old with delayed puberty (G1P1-3/testicular volume <3 сm3). We excluded patients with hypergonadotropic hypogonadism, treated with sex steroids or gonadotropins for 12 months, with endocrine/somatic diseases affecting puberty. At the first visit, we evaluated anthropometric data, bone age, testicular volume, hormones and the results of the gonadotropin-releasing hormone test (GnRH) agonist test and the human chorionic gonadotropin test (hCG) test. The HH was defined by a testicular volume <3 сm3 after 2 years follow-up. The patients were divided into two groups: the first group with CDP and testicles ≥3 cm3 (n=50) and the second group with HH and testicles <3 cm3 (n=6).
At the first visit in boys with CDP corrected target height was less (Me SDS –1.8 vs –0,4, р=0.02), bone age was less (Ме SDS –2.5 vs –0.2 р=0.03), testicular volume was more (Ме 1.9 vs 0.5, p=0.0003), hormones were significantly higher, such as LH (Ме 1.1 vs 0.1 mIU/ml, p=0.0002), FSH (Ме 1.9 vs 0.2 IU/l, p=0.00007), inhibin B (Ме 142.3 vs 31.3 pg/ml, p=0.00009), max LH (Ме 18.9 vs 0.6 mIU/ml, p=0.00007), max LH/FSH (Ме 2.3 vs 0.4, p=0.0002) on the GnRH agonist test and Δ testosterone (Ме 14.4 vs 1.1 nmol/l, p=0.0001) on the hCG test than in boys with HH. The LH ≥0.3 mIU/ml had 86% sensitivity, 100% specificity; max LH/FSH ≥1 – 92% sensitivity, 100% specificity; Δ testosterone ≥2.7 nmol/l on the hCG test – 98% sensitivity, 100% specificity for differential diagnosis of CDP and HH in boys. However, max LH ≥3.5 mIU/ml on the GnRH agonist test, FSH ≥0.5 IU/l, inhibin B ≥58 pg/ml had 100% sensitivity and specificity for diagnosis of CDP.
The inhibin B ≥58 pg/ml, LH ≥0.3 mIU/ml, FSH ≥0.5 IU/l or max LH ≥3.5 mIU/ml, max LH/FSH ≥1,0 on the GnRH agonist test, Δ testosterone ≥2.7 nmol/l on the hCG test have an excellent accuracy for the differential diagnosis of CDP and HH in prepubertal boys with delayed puberty.
探讨青春期体质性发育延迟（CDP）与低促性腺激素性性腺功能减退（HH）在男孩中的鉴别诊断问题，因为男孩具有相似的遗传机制和外观表现。
确定CDP和HH鉴别诊断标准的准确性。
该研究纳入了56名14.4±0.7岁青春期发育延迟的男孩（G1P1 - 3/睾丸体积<3 cm³）。我们排除了患有高促性腺激素性性腺功能减退、接受过12个月性激素或促性腺激素治疗以及患有影响青春期的内分泌/躯体疾病的患者。首次就诊时，我们评估了人体测量数据、骨龄、睾丸体积、激素水平以及促性腺激素释放激素（GnRH）激动剂试验和人绒毛膜促性腺激素（hCG）试验的结果。HH的定义为经过2年随访后睾丸体积<3 cm³。患者被分为两组：第一组为CDP且睾丸≥3 cm³（n = 50），第二组为HH且睾丸<3 cm³（n = 6）。
首次就诊时，CDP男孩的校正靶身高较低（中位数标准差-1.8 vs -0.4，p = 0.02），骨龄较小（中位数标准差-2.5 vs -0.2，p = 0.03），睾丸体积较大（中位数1.9 vs 0.5，p = 0.0003），激素水平显著更高，如GnRH激动剂试验中的促黄体生成素（LH）（中位数1.1 vs 0.1 mIU/ml，p = 0.0002）、促卵泡生成素（FSH）（中位数1.9 vs 0.2 IU/l，p = 0.00007）、抑制素B（中位数142.3 vs 31.3 pg/ml，p = 0.00009）、最大LH（中位数18.9 vs 0.6 mIU/ml，p = 0.00007）、最大LH/FSH（中位数2.3 vs 0.4，p = 0.0002）以及hCG试验中的睾酮变化量（Δ睾酮）（中位数14.4 vs 1.1 nmol/l，p = 0.0001），均高于HH男孩。LH≥0.3 mIU/ml对CDP和HH的鉴别诊断具有86%的敏感性和100%的特异性；最大LH/FSH≥1具有92%的敏感性和100%的特异性；hCG试验中Δ睾酮≥2.7 nmol/l对CDP和HH的鉴别诊断具有98%的敏感性和100%的特异性。然而，GnRH激动剂试验中最大LH≥3.5 mIU/ml、FSH≥0.5 IU/l、抑制素B≥58 pg/ml对CDP的诊断具有100%的敏感性和特异性。
抑制素B≥58 pg/ml、LH≥0.3 mIU/ml、FSH≥0.5 IU/l或GnRH激动剂试验中最大LH≥3.5 mIU/ml、最大LH/FSH≥1.0、hCG试验中Δ睾酮≥2.7 nmol/l对青春期发育延迟的青春期前男孩CDP和HH的鉴别诊断具有极高的准确性。
