Our 18-year-old male patient was admitted to our hospital with the complaints of impaired growth of body hair and erectile dysfunction. He was 1.77cm and 51kg with BMI of 16.7kg/m2. Micrognathia, high arched palate and low-set ears were present. There were blue, nevus-like lesions on the lip (Fig. 1A), and the foot (Fig. 1B). Laboratory results: Hb: 9.6mg/dL, WBC: 3.80×109/L, plt: 238,000/μL, FSH: 14.17IU/L, LH: 3.81IU/L, PRL: 21.10pmol/L, ACTH: 6.18pmol/L, cortisol: 347.61nmol/L, 17OHprogesteron: 5.41nmol/L, T-testosterone: 14.60nmol/L, FT4: 16.22pmol/L, TSH: 3.58mIU/mL.
