Pubertal delay: the challenge of a timely differential diagnosis between congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty

Arianna Bollino, Biagio Cangiano, Giovanni Goggi, Silvia Federici, Paolo Duminuco, Luca Giovanelli, Elena Galazzi, Valeria Vezzoli, Luca Persani, Marco Bonomi

Research output: Contribution to journalArticlepeer-review

Abstract

Distinguishing between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) may be challenging. CDGP and CHH appear to belong to the same clinical spectrum (with low sex hormones and low LH and FSH), although one is classically transient and known as a self-limited form of delayed puberty (CDGP) while the other is permanent (CHH). Thus, the clinical history and the outcomes of these two conditions require different approaches, and an adequate and timely management for the patients is mandatory. Since the initial presentation of CDGP and CHH is almost identical and given the similarities of CDGP and partial forms of CHH (i.e. patients with partial and early interrupted pubertal development) the scientific community has been struggling to find some diagnostic tests able to allow an accurate differential diagnosis between these two conditions in delayed puberty. In this review we provide an up to date insight on the tests available, their meanings and accuracy, as well as some clues to effectively differentiate between constitutional pubertal delay and pathologic CHH.

Original languageEnglish
Pages (from-to)278-287
Number of pages10
JournalMinerva Pediatrica
Volume72
Issue number4
DOIs
Publication statusPublished - Aug 1 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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