An increasing number of studies have found that SOX2 mutations can cause variable extraocular symptoms, including growth retardation, sensorineural hearing loss, mental retardation, no pubertal signs, and male genitourinary tract malformations (micropenis, cryptorchidism, and hypospadias). The LHRH stimulation test was performed in our hospital when the patient was 3.5 years old, and the results were as follows: basic luteinizing hormone (LH) 1.89 IU/L, follicle stimulating hormone (FSH) 5.48 IU/L, T <20 ng/dl, and peak LH/FSH = 3.47/5.48 = 0.63>0.60, suggesting a normal pituitary response. The basic hormone levels of patient 3 at 5 months were as follows: LH 1.40 IU/L, FSH 7.90 IU/L, T < 20 ng/dL, T 116 ng/dL after hCG stimulation test, AMH > 23.00 ng/mL, INHB 74.50 pg/mL, insulin-like growth factor-1 (IGF-1) 50.9 ng/mL, and peak LH/FSH = 2.59/7.90 = 0.33<0.60 after the LHRH stimulation test, which suggested the pituitary gland could have a response. Patients 1 and 2 carry the same reported heterozygous pathogenic site mutation (p.T232N) in the SOX2 gene, which is located in the carboxy terminal transcription activation region, and patient 3 carries a de novo nonsense heterozygous mutation (p.Y110X) that has not been reported in the literature, but a missense mutation (p.Y110C) at the same site has been reported to cause non-syndromic HH in a male patient.