ESPE Abstracts (2016) 86 P-P1-747

Etiology, Differential Diagnosis and Clinical Course of Delayed Puberty: A Single Center Experience

Tero Varimoa, Päivi Miettinena,b, Johanna Känsäkoskic, Taneli Raivioa,c & Matti Heroa


aChildren’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; bResearch Programs Unit, Molecular Neurology, and Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland; cFaculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland


Background: Delayed puberty (DP) is generally considered a benign condition. We investigated the diagnoses underlying DP and its outcome predictors.

Objective: A retrospective chart review which included clinical and biochemical data of 174 boys and 70 girls evaluated for DP in a single tertiary care center between 2004 and 2014.

Results: Thirty etiologies that underlie DP were identified. No markers of clinical value could be identified in the girls, whereas a history of cryptorchidism in the boys was associated with an 8-fold increase in the risk of permanent hypogonadism (positive predictive value 57%, 95% CI; 20–88). The conditions that cause functional hypogonadotropic hypogonadism were more frequent in the boys with the growth velocity below 3 cm/yr than in those growing faster (19% vs 4%, P<0.05). The best marker to discriminate the prepubertal boys with constitutional delay of growth and puberty (CDGP) from those with congenital hypogonadotropic hypogonadism (CHH) was testicular volume (cut-off 1.1 mL with a sensitivity of 100% and a specificity of 91%), followed by GnRH-induced maximal LH (cut-off 4.3 IU/L; 100%, 75%) and basal inhibin B level (cut-off 61 ng/l; 90%, 83%).

Conclusions: A history of cryptorchidism and slow growth velocity are two important clinical cues that help to predict the clinical course of DP in boys. In prepubertal boys, testicular size is a simple diagnostic parameter for differentiating CHH from CDGP.

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