Study On The Early Diagnosis Of Kallmann Syndrome In Male Children

Objective to explore the early diagnosis of Kallmann syndrome(KS)in male children,and to seek a more simple,economic and effective detection index for early identification of KS patients.Methods from January 2013 to December 2020,male children with penile and testicular dysplasia were included in the study.Patients with confirmed KS were included in KS group.After follow-up,the patients with normal sexual development without special intervention were included in the control group.The differences of the baseline values of luteinizing hormone(LH)and follicle stimulating hormone(FSH),the peak values of LH and FSH in gonadotropin releasing hormone(Gn RH)stimulation test,and testosterone before and after human chorionic gonadotropin(HCG)stimulation test,anti-Mullerian hormone(AMH),and inhibin B levels were compared between the two groups.The ROC curve was drawn to obtain the cut-off point corresponding to the maximum Youden index,and the diagnostic value of the above detection indexes as early diagnosis was evaluated.Results 1.There were 5 patients in KS group and 23 patients in control group.The mean level of the basic value of FSH,the peak value of LH and FSH in Gn RH stimulation test,testosterone after HCG stimulation test and inhibin B in KS group were significantly lower than those in control group.There was no significant difference between the two groups in AMH,LH and testosterone before HCG stimulation test.2.When the basic value of FSH≤1.82 m IU/ml,the sensitivity,specificity and AUC of KS were 100%,65.2% and 0.870 respectively.When the FSH peak value was less than or equal to 2.985 m IU/ml,the sensitivity,specificity and AUC were 60%,100% and 0.843 respectively.Basic LH≤0.27 m IU / ml,the sensitivity,specificity and AUC were 100%,52.2% and 0.748 respectively.the peak value of LH ≤ 4.87 m IU / ml,the sensitivity was 100%,the specificity was 69.6%,AUC = 0.861.When inhibin B≤52.56pg/ml,the sensitivity,specificity and AUC of KS were 100%,65% and 0.850 respectively.When testosterone before HCG stimulation test was less than or equal to 0.215ng/ml,the sensitivity,specificity and AUC were 80%,86.7% and 0.807 respectively.when testosterone after HCG stimulation test was less than or equal to 0.975ng/ml,the sensitivity,specificity and AUC of KS were 80%,86.7% and 0.887 respectively.3.When FSH0min≤1.82 m IU/ml and inhibin B ≤ 52.56pg/ml,the sensitivity and specificity were 100% and 87.0%,respectively.Conclusion the basic value and peak value of FSH and LH,inhibin B and testosterone after HCG stimulation test alone have certain diagnostic value,but the sensitivity or specificity of diagnosis is insufficient.Combined detection of multiple indicators can improve the sensitivity and specificity of single indicator detection.Combined detection of FSH basal value and inhibin B level can be used as a relatively economic screening method for patients in early puberty.