Endocrine manifestations in a paediatric cohort of 181 patients with neurofibromatosis type 1
Authors' conclusion
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.
Study context
- Population
- Paediatric NF1 patients followed in the Endocrinology Department of Portuguese Institute of Oncology of Lisbon, 1997–2023100 males
- Participants
- 181 patients
- Exposure
- Optic pathway glioma (OPG) vs no OPG
- Outcome
- Prevalence of endocrinopathies
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Overall prevalence of endocrinopathies
P = 0.011
- Overall prevalence of endocrinopathies (whole cohort)
- 23.2%
Observational data: associations, not effects.
Further findings
Puberty disorders (most common)
P = 0.011
GHD (second most prevalent)
P = 0.004
- Puberty disorders (most common) — Prevalence, whole cohort
- 12.2%
- Growth hormone deficiency (GHD) (second most prevalent) — Prevalence, whole cohort
- 9.9%
Less frequent abnormalities
- Central hypogonadism, only in patients without OPG
- n = 2, 1.1%
- Central hypothyroidism with ACTH deficiency (child with panhypopituitarism)
- 0.6%
- Primary hypothyroidism with thyroid nodules
- 1 patient (0.6%)
- Gynaecomastia
- 4 children (2.2%)
Original publication
Endocrine manifestations in a paediatric cohort of 181 patients with neurofibromatosis type 1. Eur J Endocrinol. Published 25 July 2025. doi:10.
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