Backgraund: The problem of differential diagnosis of constitutional delay of puberty/CPD and hypogonadotropic hypogonadism/HH in boys is discussed, as boys have similar genetic mechanisms and appearance.
Aims: to determine accuracy of the criteria for the differential diagnosis of CDP and HH.
Materials: The study included 56 boys14,40,7 years old with delayed puberty (G1P1-3/testicular volume 3сm3). We excluded patients with hypergonadotropic hypogonadism, treated with sex steroids or gonadotropins for 12 months, with endocrine/somatic diseases affecting puberty.
At the first visit, we evaluated anthropometric data, bone age, testicular volume, hormones and the results of the gonadotropin-releasing hormone test/GnRH agonist test and the human chorionic gonadotropin test/hCG test.
The HH was defined by a testicular volume 3сm3 after 2 years follow-up. The patients were divided into two groups: the first group with CDP and testicles 3cm3 (n=50) and the second group with HH and testicles 3cm3 (n=6).
Results: At the first visit in boys with CDP corrected target height was less (Me SDS -1,8 vs -0,4, р=0,02), bone age was less (Ме SDS -2,5 vs - 0,2 р=0,03), testicular volume was more (Ме 1,9 vs 0,5, p=0,0003), hormones were significantly higher, such as, LH (Ме 1,1 vs 0,1mIU/ml, p=0,0002), FSH (Ме 1,9 vs 0,2IU/l, p=0,00007), inhibinB (Ме 142,3 vs 31,3pg/ml, p=0,00009), maxLH (Ме 18,9 vs 0,6mIU/ml, p=0,00007), maxLH/FSH (Ме 2,3 vs 0,4, p=0,0002) on the GnRH agonist test and testosterone (Ме 14,4 vs 1,1nmol/l, p=0,0001) on the hCG test than in boys with HH.
The LH 0,3 mIU/ml had 86% sensitivity, 100% specificity; maxLH/FSH1- 92% sensitivity, 100% specificity; testosterone 2,7 nmol/l on the hCG test - 98% sensitivity, 100% specificity for differential diagnosis of CDP and HH in boys. However, maxLH 3,5 mIU/ml on the GnRH agonist test, FSH 0,5 IU/l, inhibinB 58 pg/ml had 100% sensitivity and specificity for diagnosis of CDP.
Conclusions: The inhibinB 58 pg/ml, LH 0,3 mIU/ml, FSH 0,5 IU/l or maxLH 3,5 mIU/ml, maxLH/FSH 1,0 on the GnRH agonist test, testosterone 2,7 nmol/l on the hCG test have an excellent accuracy for the differential diagnosis of CDP and HH in prepubertal boys with delayed puberty.