Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
Front Endocrinol (Lausanne). 2023 Jan 16;13:1069741. doi: 10.3389/fendo.2022.1069741. eCollection 2022.
Distinguishing between self limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and biochemical characteristics. and appear to lie within the same clinical spectrum. However, one is classically transient (SDLP) while the second is typically a lifetime condition (CHH). The natural history and long-term outcomes of these two conditions differ significantly and thus command distinctive approaches and management. Because the first presentation of SDLP and CHH is very similar (delayed puberty with low LH and FSH and low sex hormones), the scientific community is scrambling to identify diagnostic tests that can allow a correct differential diagnosis among these two conditions, without having to rely on the presence or absence of phenotypic red flags for CHH that clinicians anyway seem to find hard to process. Despite the heterogeneity of genetic defects so far reported in DP, genetic analysis through next-generation sequencing technology (NGS) had the potential to contribute to the differential diagnostic process between SLDP and CHH. In this review we will provide an up-to-date overview of the genetic architecture of these two conditions and debate the benefits and the bias of performing genetic analysis seeking to effectively differentiate between these two conditions.
区分自限性延迟性青春期（SLDP）和先天性低促性腺激素性性腺功能减退症（CHH）可能很棘手，因为它们具有相似的临床和生化特征，似乎属于同一临床谱系。然而，前者是经典的一过性（SLDP），而后者通常是终身疾病（CHH）。这两种情况的自然病史和长期结局有显著差异，因此需要采取不同的方法和管理。由于 SLDP 和 CHH 的首次表现非常相似（青春期延迟，伴有低 LH 和 FSH 以及低性激素），科学界正在争先恐后地寻找能够在这两种情况下进行正确鉴别诊断的诊断测试，而不必依赖于 CHH 的表型标志是否存在，因为临床医生似乎很难处理这些标志。尽管迄今为止报道的 DP 中的遗传缺陷具有异质性，但通过下一代测序技术（NGS）进行遗传分析有可能有助于 SLDP 和 CHH 之间的鉴别诊断过程。在这篇综述中，我们将提供这两种情况的遗传结构的最新概述，并讨论进行遗传分析的益处和偏见，旨在有效区分这两种情况。
