Based on INHB, AMH, T, FSH, and LH cutoffs, we calculated sensitivity and specificity (and 95% CIs) and likelihood ratios for the diagnosis of CHH [except for T during early mini-puberty, as it was a diagnostic criterion for CHH, so the T ROC area under the curve (AUC) was 1]. Here, PLOD1 is linked to cartilage-hair hypoplasia.