Pubertal dysfunctions in intracranial germ cell tumors.

INTRODUCTION

Pediatric intracranial germ cell tumors (IC-GCTs) are frequently associated with pubertal dysfunctions, either at diagnosis or during follow-up. This study aims to evaluate the prevalence and types of pubertal disorders in a cohort of pediatric patients with IC-GCTs.

METHODS

We collected clinical, radiological, histopathological, and hormonal data. Pubertal dysfunctions were classified as: (1) pseudo-precocious puberty (PPP, gonadotrophin-independent); (2) central precocious puberty (CPP, gonadotrophin-dependent); (3) hypogonadotrophic hypogonadism (HH).

RESULTS

Sixty patients with IC-GCTs (followed-up between 1996 and 2023 at Royal Marsden Hospital, UK) were included (median follow-up 22.9 months). Germinomas represented 70%, teratomas and mixed GCTs 15% each. Tumors were suprasellar (59%), pineal (30%), or bifocal (11%). Treatments included surgery (11%), chemotherapy (78%), and radiotherapy (90%). Pubertal disorders were found in 27 patients (16 males, 11 females). PPP was found in five patients at diagnosis; in three, it resolved with tumor treatment; one required treatment with bicalutamide/anastrozole and one progressed to CPP. Three patients in total developed CPP (one after PPP, one post-PPP with intervening treatment, and one post-cancer treatment completion). HH was diagnosed in 20 cases (mean age 17.5 years in males, 15.1 in females). Two had HH at diagnosis. One female had amenorrhea with polycystic ovary syndrome and responded to combined oral hormonal therapy. No cases of hypergonadotrophic hypogonadism from chemotherapy were observed.

CONCLUSION

Pubertal dysfunctions are common in IC-GCTs, especially with suprasellar involvement. Patterns include PPP, CPP, and HH, which may evolve over time. Long-term specialist endocrine follow-up is essential.