Language
English
Publication Date
5-19-2025
Journal
The Journal of Clinical Endocrinology & Metabolism
DOI
10.1210/clinem/dgae827
PMID
39699236
PMCID
PMC12086397
PubMedCentral® Posted Date
12-19-2024
PubMedCentral® Full Text Version
Post-print
Abstract
Endocrinopathies are frequently the initial presentation of histiocytic neoplasms, which are rare hematologic disorders affecting multiple organ systems. Langerhans cell histiocytosis and Erdheim-Chester disease are 2 such disorders known to infiltrate the hypothalamus and/or pituitary gland, leading to arginine vasopressin deficiency (AVP-D) and anterior pituitary dysfunction (APD) in 20% to 30% of cases, often as the first manifestation. Conversely, histiocytic disorders account for a notable proportion (10-15%) of all pituitary stalk lesions. The diagnosis of histiocytoses is often delayed in such cases due to the nonspecific presentation of endocrinopathies and pituitary involvement. Consequently, endocrinologists are at the frontline and uniquely positioned to achieve early diagnosis by recognizing the varied nonendocrine features of these disorders. This article provides an overview of the endocrine manifestations of histiocytic disorders and presents a simplified algorithm to guide the diagnostic workup in cases presenting with "idiopathic" AVP-D or APD. Such cases should be evaluated for histiocytic neoplasms with additional imaging studies and biopsies of suspected disease sites. If no disease site beyond the pituitary is identified, the risks and benefits of a pituitary stalk lesion biopsy must be carefully considered. While treatments of histiocytic neoplasms are highly efficacious, endocrinopathies are considered permanent and require long-term hormone replacement. It remains unclear whether early diagnosis and novel targeted therapies can reverse these endocrine disorders. Therefore, the role of the endocrinologist role is critical in the diagnosis and management of these rare diseases.
Keywords
Humans, Histiocytosis, Langerhans-Cell, Endocrine System Diseases, Erdheim-Chester Disease, Diagnosis, Differential, Pituitary Diseases, Langerhans cell histiocytosis, Erdheim–Chester disease, Rosai–Dorfman disease, endocrine, pituitary
Published Open-Access
yes
Recommended Citation
Makras, Polyzois; Erickson, Dana; Davidge-Pitts, Caroline J; et al., "Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder" (2025). Faculty, Staff and Students Publications. 6433.
https://digitalcommons.library.tmc.edu/baylor_docs/6433