Evaluation of delayed puberty: what diagnostic tests should be performed in the seemingly otherwise well adolescent?

Abstract:

:Delayed puberty (DP) is defined as the lack of pubertal development by an age that is 2-2.5 SDs beyond the population mean. Although it generally represents a normal variant in pubertal timing, concern that DP could be the initial presentation of a serious underlying disorder has led to a diagnostic approach that is variable and may include tests that are unnecessary and costly. In this review, we examine available literature regarding the recommended diagnostic tests and aetiologies identified during the evaluation of youth with DP. We view this literature through the prism of the seemingly otherwise well adolescent. To provide further clinical context, we also evaluate the clinical and laboratory data from patients seen with DP in our centre over a 2-year period. The literature and our data reveal wide variability in the number of tests performed and raise the question of whether tests, other than gonadotropins, obtained in the absence of signs or symptoms of an underlying disorder are routinely warranted. Together this information provides a pragmatic rationale for revisiting recommendations calling for broad testing during the initial diagnostic evaluation of an otherwise healthy adolescent with DP. We highlight the need for further research comparing the utility of broader screening with a more streamlined approach, such as limiting initial testing to gonadotropins and a bone age, which, while not diagnostic, is often useful for height prediction, followed by close clinical monitoring. If future research supports a more streamlined approach to DP, then much unnecessary testing could be eliminated.

journal_name

Arch Dis Child

authors

Abitbol L,Zborovski S,Palmert MR

doi

10.1136/archdischild-2015-310375

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

767-71

issue

8

eissn

0003-9888

issn

1468-2044

pii

archdischild-2015-310375

journal_volume

101

pub_type

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