Hypopituitarism in an adult patient as the first sign of langerhans cell histiocytosis
M. Passeri1, R. Antonelli1, S. Falcone1, E. di Benedetto1, G. Franconi1, M. Calanchini1, M. Caprio2 & A. Fabbri1
Langerhans cell histiocytosis (LCH) is a rare entity characterized by clonal proliferation and accumulation of cells resembling the epidermal dendritic cells called Langerhans cells (distinct margins, pink granular cytoplasm, Birbeck granules at electron microscopy and CD1 positivity by immunocytochemistry). These cells in combination with lymphocytes, eosinophils ad normal hystiocytes form the typical LCH lesions. About half of affected patients have extraskeletal manifestations, including involvement of the hypothalamuspituitary axis, lung, heart, retroperitoneum, skin, liver, kidneys and spleen. There is an ongoing debate on the exact pathogenesis of this disorder and on its classification as reactive versus neoplastic.
This report describes the case of a 54-years-old man who presented with hypogonadism, central hypothyroidism, diabetes insipidus and GH deficiency ten years ago. At the time of diagnosis a thickening of the pituitary stalk, with a slight compression of the posterior region of the optic chiasma, was recorded at MRI images. A moderate hyperprolactinemia was also present. At that time a work-up for granulomatous or infectious diseases was negative. Nearly one year ago, the patient experienced skin involvement (skin biopsy of the perianal region positive for LCH) and massive bone involvement (sclerotic infiltration of vertebral bodies, femoral and tibial metaphysis and diaphysis). At the present time the patient is doing well after two cycles of chemotherapy. MRI imaging is still stable.
Hypopituitarism may be the first sign of a so far undiagnosed extracranial disease; mainly inflammatory or granulomatous disease should be carefully considered in differential diagnosis.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.