Endocrine Abstracts

JOINT1292

The aim of this study was to assess safety and efficacy of minipuberty induction with gonadotropin therapy for congenital hypogonadotropic hypogonadism (CHH). We recruited five male infants with clinical ± biochemical CHH. Treatment goal was penile and testicular growth, testicular descent, and normalisation of testosterone and inhibin B levels. Four cases had multiple pituitary hormone deficiency (MPHD); two each with pituitary stalk interruption syndrome and septo-optic dysplasia on MRI. The fifth case had Trisomy 21 with clinical hypogonadism. All five demonstrated micropenis with cryptorchidism noted in four. Clinical and biochemical picture was consistent with hypogonadotropic hypogonadism in all. Minipuberty induction was performed using subcutaneous injections of choriogonadotropin alfa (10-20μg twice-weekly) and recombinant FSH (25-50 IU thrice-weekly). Serial biochemical and clinical monitoring was performed. Age at induction was 11±4.6 weeks for the MPHD patients and 26 weeks for case 5. Treatment duration was 16±6.3 weeks All patients demonstrated good clinical response (Table 1). SPL increased from 1.0±0.3 cm to 3.0±0.4 cm (P < 0.001), TV (ultrasound) increased from 0.156±0.09mL to 0.296±0.31mL (P = 0.09), testosterone increased from 0±0.1nmol/l to 22±5.6nmol/l (P < 0.001) and inhibin B rose from 76±29ng/l to 228±148ng/l (P = 0.02) pre- and post-treatment. Testicular descent into scrotum was noted in 4 children. No adverse events occurred during treatment. This case series demonstrates successful induction of minipuberty with testicular descent seen in 80% cases obviating the need for surgery. Significant heterogeneity in response was observed highlighting the need for close monitoring and personalised treatment.