ESPE Abstracts

Introduction: Langerhans cell histiocytosis (LCH) is a rare disease that the clinical presentation can vary from the involvement of a single region to widespread multiorgan involvement. The most common central nervous system infiltration is observed in the hypothalamic-pituitary region, which frequently leads to central diabetes insipidus (CDİ) and occasionally to anterior pituitary hormone deficiencies. There is limited data on endocrinological findings, particularly anterior pituitary hormone deficiencies, in LCH. This study aims to evaluate pituitary hormone deficiencies in LCH by assessing clinical and radiological findings.

Method: The medical records of patients with LCH diagnosed between 1999-2024 were retrospectively analyzed. Data regarding the course of the disease, sites of involvement, pre-and post-treatment pituitary hormones, pituitary MRI findings, anthropometric measurements, and pubertal staging for each patient were analyzed.

Results: The average age at LCH diagnosis was 4.9 years, while the average age at the onset of the first endocrinological complaint was 6.4 years. Multisystem involvement was observed in 44.4% of the patients. A total of 36 patients with LCH were evaluated for the presence of endocrinopathy; this was identified in 55.5% (n = 20). Central diabetes insipidus (CDI) was identified in 90% (n = 18) of patients with endocrinopathies. Anterior pituitary hormone deficiency (growth hormone deficiency, secondary hypothyroidism, secondary adrenal insufficiency, gonadotropin deficiency) was detected in 12 patients (60%). Panhypopituitarism was identified in 2 patients. Among those with growth hormone deficiency, 2 were diagnosed before treatment, while 8 were identified during post-treatment follow-up. A significant association was not identified between multiple system involvement and anterior pituitary hormone deficiency. Twenty patients underwent radiological evaluation of the pituitary gland. The most commonly detected pathological finding was increased infundibulum thickness (n = 7, 35%) followed by the disappearance of the hyperintense signal on MRI-T1-weighted images of the posterior pituitary (n = 6, 30%). There was no statistically significant correlation between the radiological findings and anterior pituitary hormone deficiency.

Conclusion: It would be beneficial to closely monitor patients diagnosed with LCH for potential endocrine complications and to identify and replace anterior pituitary hormone deficiencies as early as possible. Early diagnosis and intervention could have a significant impact on long-term health outcomes and improve patients quality of life. Further research could help us better understand the underlying mechanisms in LCH and develop optimal management strategies for endocrine manifestations.

Keyword: Langerhans Cell Histiocytosis, Anterior Pituitary Hormone Deficiencies, Panhypopituitarism