Purpose: To describe the case of a 9-year-old male patient with neurofibromatosis type 1 (NF1), partial empty sella (PES), transient central adrenal insufficiency (CAI) and growth hormone (GH) deficiency (GHD) treated with recombinant GH (rGH).
Methods: The diagnosis of GHD was established upon peak GH response <10 ng/mL following glucagon and clonidine stimulation tests. CAI was diagnosed when peak cortisol response was <18 μg/dL following 1 μg Synacthen test (ST) with normal ACTH levels.
Results: The diagnosis of NF1 was made at the age of 1.5 year. The patient first attended our Department at the age of 4.5 years. He presented with short stature (height: 95 cm < 3rd percentile), macrocephaly, frontal bossing, café-au-lait spots and bilateral proptosis. His growth rate (GR) initially was 5.3 cm/year. Brain/pituitary MRI showed T2-hyperintensities typical for NF1 and PES with reduced pituitary gland height (3 mm). The pituitary function tests revealed GHD. During follow-up his imaging findings remained unchanged, while his GR decelerated. He was started on rGH at the age of 8.5 years. Within the following year he grew 8.7 cm in height and could preserve a normal GR thereafter. At the age of 10.3 years, he was diagnosed with CAI (maximum cortisol response post-1 μg ST: 13.1 μg/dL). Ηe received hydrocortisone for 1 year. A repeat 1 μg ST off hydrocortisone showed normal cortisol response. During follow-up, brain MRI findings remained stable, while his pituitary demonstrated normal size and signal intensity.
Conclusion: Empty sella and hypopituitarism may occur in the context of NF1. Short stature may be associated with GHD in the absence of intrasellar masses in affected individuals. Lifelong endocrine follow-up is recommended for all NF1 patients.
Keywords: Adrenal insufficiency; Empty sella; Growth hormone deficiency; Neurofibromatosis type 1.