Case Report

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association

Table 2

GnRH agonist stimulation test (leuprolide acetate) done at the age of 10 years and 9 months using 20 mcg/kg/subcutaneous dose.

Baseline60 min120 min24 hrs

LH (mIU/mL)1.79.21011
FSH (mIU/mL)2.33.43.74.3
Testosterone (ng/dL)48--132