Endocrine manifestations in a paediatric cohort of 181 patients with neurofibromatosis type 1

Endocrine disorders in patients with neurofibromatosis type 1 (NF1) are well established, but have been mainly described in single case reports or small series. Our aim is to characterize the endocrine manifestations of a NF1 paediatric population in a single centre.

Retrospective analysis of paediatric NF1 patients followed in the Endocrinology Department of Portuguese Institute of Oncology of Lisbon between 1997 and 2023.

Patients were identified using our centre's NF1 database.

A total of 181 patients (100 males) were included in the study. The overall prevalence of endocrinopathies was 23.2%, with a significantly higher rate in patients with optic pathway glioma (OPG) compared with those without (32.9% vs. 16.7%, P = .011). Puberty disorders were the most common endocrine dysfunction (12.2%), more frequent in children with OPG (19.2% vs. 7.4%, P = .011). Growth hormone deficiency (GHD) was the second most prevalent (9.9%), also more common among children with OPG (17.8% vs. 4.9%, P = .004). Less frequent abnormalities included central hypogonadism (n = 2, 1.1%), observed only in patients without OPG, and central hypothyroidism with ACTH deficiency (0.6%) in a child with panhypopituitarism. Primary hypothyroidism with thyroid nodules was identified in 1 patient (0.6%), and gynaecomastia was noted in 4 children (2.2%).

Puberty disorders and GHD were the most frequent disorders in our cohort. This study highlights the high prevalence of different endocrine manifestations associated with NF1, even without OPG, reinforcing the need to develop referral criteria and follow-up protocols.