Endocrine Abstracts

JOINT2215

Introduction: Neurofibromatosis type 1 (NF-1) is one of the most common inherited disorders. Incidence of NF1 is approximately 1 in 3000 individuals globally with some variations across the globe. One of the most common endocrine disorders in NF1 are short stature with or without growth hormone deficiency. Here, we report the case of two brothers in whom GH deficiency revealed NF-1.

Case Report: The first case, an 11-year boy without medical history was referred for harmonious growth delay. Physical exam was remarkable for multiple café-au-lait spots (more than six spots) and lentigines, height and weight were less than -2DS. Biology revealed a GH deficiency and subclinical hypothyroidism. Brain MRI revealed the presence of unidentified hyperintense objects in the bipallidal and cerebellar regions without other significant anomalies. GH therapy and thyroid hormone substitution were initiated with close endocrinological surveillance. The second case, the brother a 10 years-old boy without any medical history, was referred for short stature. Physical exam revealed harmonious growth delay with height and weight were less than -2DS and cutaneous exam showed multiple café-au-lait spots and lentigines. Biology revealed a GH deficiency and subclinical hypothyroidism. Brain MRI revealed ventriculomegaly without aqueductal stenosis and showed the presence of unidentified hyperintense objects in the bipallidal and cerebellar regions. There was also a borderline-sized anterior pituitary gland, a Rathke’s pouch cyst and cortico-subcortical atrophy. Ophthalmologic examination revealed the presence of Lisch nodules and Yasunari spots, a pathognomonic signs of neurofibromatosis type 1, confirming the diagnosis. GH therapy was initiated with close endocrinological and neurological follow-up.

Discussion: Short stature with or without Growth hormone deficiency (GHD) is well-known as a clinical feature of NF1, but rarely reveals the disease. The GHD is more common in children with NF1 compared to the general population. The cause of GH deficiency in NF-1 is not clear, it can be observed in intracranial tumors, due to tumor treatments or without any organic pituitary damage. Patients with NF1 are at higher risk of developing tumors than the general population, thus healthcare providers must recognize its diverse manifestations for timely diagnosis and optimal care.

Conclusion: Clinical manifestations of NF1 must be detected in the early pediatric age. Patients require frequent long-term follow-ups by several specialists for early identification of endocrinopathies, emphasizing the importance of a multidisciplinary team approach.