Background: At 14 years of age for boys and 13 years for girls, delayed puberty with low gonadotropic hormones can either be a chronopathologic feature (constitutional delay of puberty CDP) or the subclinical unmasking of a future isolated hypogonadotropic hypogonadism (IHH). The two conditions are difficult to differentiate at these specific ages.
Objective and hypotheses: We aimed to identify clinical and paraclinical features which correlate with either CDP or IHH in order to help in making an early diagnosis.
Method: 82 boys with delayed puberty were followed between 2008 and 2013. The following clinical parameters were registered: significant family history, presence of micropenis and/or cryptorchidia at birth, gonadal volume, pubic and axillary hair (Tanner stages), need for pubertal priming during follow-up. Paraclinically: at the beginning of follow-up soluble Triptorelin sc test (100 μg/m2) was performed with determination of basal FSH, LH, testosterone and 4 h FSH, LH and 24 h testosterone. Bone age was also analyzed. The data were analyzed using binary logistic regression and ROC curve.
Results: At the end of follow-up 73 patients proved to be CDP, while nine patients had HH. A strong clinical prognostic factor for CDP was a family history of CDP (P=0.039). 4 h LH≥5 mIU/ml after soluble Tripotrelin sc test has a 91% accuracy in diagnosing CDP. Lack of the need for priming or a positive response to priming had the highest prognostic value for CDP.
Conclusion: There is no hormonal test that can certainly distinguish between CDP and HH. If there is no pubertal onset up to the age of 18 years in boys, HH is certain. CDP is an exclusion diagnosis.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology