■青春期延迟(DP)是青少年经常关注的问题。最常见的潜在病因是自限性DP(SLDP)。然而,这可能很难与更严重的先天性低促性腺激素性性腺功能减退症(HH)区分开来,特别是在第一次出现患有DP的青少年患者时。这项研究试图阐明两种诊断之间的表型差异,以优化患者管理和青春期发育。
■这是对2015-2023年管理的英国DP队列的研究,通过NIHR临床研究网络确定。对患者进行纵向随访直至成年,明确诊断:SLDP,如果他们在18岁时自发完成青春期;HH,如果他们没有开始(完整,cHH),或已经开始但尚未完成青春期(部分,pHH),在这个阶段。与营养学有关的表型数据,坦纳分期,生物化学,回顾性分析了在出现时和青春期时的骨龄和激素治疗。
■78例患者被纳入。52例(66.7%)患者有SLDP,26例(33.3%)患者有HH,包括17例(65.4%)pHH和9例(34.6%)cHH患者。前带主要为男性(90.4%)。男性SLDP患者的身高和体重标准差评分明显低于HH患者(身高p=0.004,体重p=0.021)。与38.5%的HH患者相比,15.4%的SLDP患者具有典型的HH相关特征(微阴茎,隐睾,嗅觉缺失,等。p=0.023)。73.1%的SLDP患者和43.3%的HH患者有DP家族史(p=0.007)。男性HH患者首次记录的促黄体生成素(LH)和抑制素B的平均值较低,特别是在cHH患者中,但不是歧视性的。FSH的血液浓度没有显着差异,介绍时的睾丸激素或AMH,或骨龄延迟。
■关键的辅助临床标记,相关的迹象,包括小阴茎,和血清抑制素B可能有助于区分SLDP和HH表现为青春期延迟的患者,并且可以纳入临床评估,以提高青少年的诊断准确性。然而,HH之间的区别,特别是部分HH,和SLDP仍然存在问题。对集成框架或评分系统的进一步研究将有助于帮助临床医生做出决策和优化治疗。.
Delayed puberty (DP) is a frequent concern for adolescents. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic hypogonadism (HH), especially on first presentation of an adolescent patient with DP. This study sought to elucidate phenotypic differences between the two diagnoses, in order to optimise patient management and pubertal development.
This was a study of a UK DP cohort managed 2015-2023, identified through the NIHR clinical research network. Patients were followed longitudinally until adulthood, with a definite diagnosis made: SLDP if they had spontaneously completed puberty by age 18 years; HH if they had not commenced (complete, cHH), or had commenced but not completed puberty (partial, pHH), by this stage. Phenotypic data pertaining to auxology, Tanner staging, biochemistry, bone age and hormonal treatment at presentation and during puberty were retrospectively analysed.
78 patients were included. 52 (66.7%) patients had SLDP and 26 (33.3%) patients had HH, comprising 17 (65.4%) pHH and 9 (34.6%) cHH patients. Probands were predominantly male (90.4%). Male SLDP patients presented with significantly lower height and weight standard deviation scores than HH patients (height p=0.004, weight p=0.021). 15.4% of SLDP compared to 38.5% of HH patients had classical associated features of HH (micropenis, cryptorchidism, anosmia, etc. p=0.023). 73.1% of patients with SLDP and 43.3% with HH had a family history of DP (p=0.007). Mean first recorded luteinizing hormone (LH) and inhibin B were lower in male patients with HH, particularly in cHH patients, but not discriminatory. There were no significant differences identified in blood concentrations of FSH, testosterone or AMH at presentation, or in bone age delay.
Key clinical markers of auxology, associated signs including micropenis, and serum inhibin B may help distinguish between SLDP and HH in patients presenting with pubertal delay, and can be incorporated into clinical assessment to improve diagnostic accuracy for adolescents. However, the distinction between HH, particularly partial HH, and SLDP remains problematic. Further research into an integrated framework or scoring system would be useful in aiding clinician decision-making and optimization of treatment. .