Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism.

ABSTRACT: 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

SUBMITTER: Vezzoli V 

PROVIDER: S-EPMC9884699 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature