Evaluation of Delayed Puberty: What Diagnostic Tests Should be Done in the Seemingly Otherwise Well Adolescent?

Abstract

Abstract BACKGROUND: Delayed puberty (DP) is defined as the lack of puberty by an age that is 2-2.5 standard deviations beyond the population mean. Although it generally represents a normal variant in pubertal timing, DP can be the initial presentation of a serious underlying disorder and can be a source of significant anxiety for patients and their parents. Despite its clinical importance, the initial diagnostic approach to this condition is variable and may include tests that are unnecessary and costly. OBJECTIVES: To review the current recommendations regarding the initial evaluation of DP in the seemingly otherwise well adolescent and provide a rationale for revisiting these recommendations using data from our centre. DESIGN/METHODS: We reviewed clinical and laboratory data of patients seen for DP in the Endocrinology Clinic at the Hospital for Sick Children through retrospective chart review of patients seen between 08/2012 and 12/2013 and prospective chart review of those seen between 01/2014 and 07/2014. RESULTS: 519 charts were reviewed retrospectively and 58 met inclusion criteria; 6 additional patients were identified prospectively (n=64; 40 male, 24 female). Among the patients who were previously healthy, 70% had constitutional delay of growth and puberty, 18% had functional hypogo-nadotropic hypogonadism (FHH), 7% had permanent hypogonadotropic hypogonadism and 4% had hypergonadropic hypogonadism. Wide inter-practitioner variability in the number of diagnostic tests ordered, ranging from 3 to 27, was observed. The mean number of diagnostic tests ordered at the patient’s initial visit was 16 with a median of 17. Diagnostic tests ordered to identify FHH in the absence of signs or symptoms of an underlying disorder, including thyroid function testing, celiac antibodies and general screens for systemic illness were not helpful. CONCLUSION: We found wide variability in the number of diagnostic tests ordered during the initial work-up of DP. Furthermore, the majority of tests ordered had a low diagnostic yield in patients with low pre-test probability. We propose that initial diagnostic testing in an otherwise healthy adolescent with DP should only consist of gonadotropins and close clinical monitoring. A bone age, while non-diagnostic, is useful for height prediction.