Efficacy and safety of pulsatile GnRH pump therapy in male infants with congenital hypogonadotropic hypogonadism.

Introduction: To investigate the efficacy and safety of pulsatile gonadotropin-releasing hormone pump therapy in male infants with congenital hypogonadotropic hypogonadism. Methods: Seven male infants with congenital hypogonadotropic hypogonadism who were treated in a single center between 2019 and 2022 were included. Each patient was treated by subcutaneous infusion of 5 μg/90 min gonadorelin via a pulsatile gonadotropin-releasing hormone pump for 3-5 months. Data including age, drug dose, penile length, testicular volume and cryptorchidism were collected. Serum testosterone, follicle-stimulating hormone, luteinizing hormone, anti-Müllerian hormone, inhibin B concentration and liver and kidney functions were also measured. Data were analyzed using paired t-test and rank-sum test. Results: Penile length increased from 1.27 ± 0.71 cm before treatment to 2.43 ± 0.90 cm after treatment, and testicular volume increased from 0.08 (0.04, 0.14) mL (left) and 0.08 (0.06, 0.12) mL (right) to 0.20 (0.16, 0.20) mL (left) and 0.22 (0.18, 0.30) mL (right). Inhibin B and anti-Müllerian hormone increased from 53.86 ± 11.54 pg/mL and 34.25 ± 12.48 ng/mL to 218.46 ± 32.34 pg/mL and 72.84 ± 9.24 ng/mL after treatment, respectively. At the end of the treatment, the testes of some children descended (6/13, 46.1%). During follow-up, the testes of two patients re-ascended to the inguinal region. No obvious adverse reactions were found in all patients before and after treatment. Conclusion: Pulsatile gonadotropin-releasing hormone pump therapy can increase penile length, testicular volume, anti-Müllerian hormone levels and serum inhibin B levels in infants with congenital hypogonadotropic hypogonadism without adverse effects. However, its long-term efficacy and safety require further follow-up.