Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Endocrine. 2021 Mar;71(3):681-688. doi: 10.1007/s12020-021-02626-z. Epub 2021 Jan 29.
The differential diagnoses of pubertal delay include hypergonadotropic hypogonadism and congenital hypogonadotropic hypogonadism (CHH), as well as constitutional delay of growth and puberty (CDGP). Distinguishing between CDGP and CHH may be challenging, and the scientific community has been struggling to develop diagnostic tests that allow an accurate differential diagnosis. Indeed, an adequate and timely management is critical in order to enable optimal clinical and psychosocial outcomes of the different forms of pubertal delays. In this review, we provide an updated insight on the differential diagnoses of pubertal delay, including the available tests, their meanings and accuracy, as well as some clues to effectively orientate towards either constitutional pubertal delay or pathologic CHH and hypergonadotropic hypogonadism.
青春期延迟的鉴别诊断包括促性腺激素释放激素（GnRH）依赖性和非依赖性性腺功能减退症，如高促性腺激素性性腺功能减退症和先天性促性腺激素释放激素（GnRH）缺乏症（CHH），以及体质性青春发育延迟（CDGP）。区分 CDGP 和 CHH 可能具有挑战性，科学界一直在努力开发能够进行准确鉴别诊断的诊断测试。事实上，为了使不同类型的青春期延迟获得最佳的临床和心理社会结局，进行充分和及时的管理是至关重要的。在这篇综述中，我们提供了青春期延迟鉴别诊断的最新见解，包括现有的测试及其意义和准确性，以及一些线索，以有效地确定是体质性青春期延迟还是病理性 CHH 和高促性腺激素性性腺功能减退症。
