Langerhans cell histiocytosis (LCH) is a rare proliferative disorder characterised as an inflammatory myeloid neoplasia (1). Cases may present to a wide range of clinicians including dermatology, ophthalmology, orthopaedics and endocrinology (2). Endocrine manifestations of LCH, particularly central diabetes insipidus (CDI), have been described as early as the 1940s, but primarily through case studies and small cohort analyses (3 – 5). There are limited Australian paediatric data described in recent literature.
Aim: To investigate the incidence of endocrine features in paediatric patients with Langerhans Cell Histiocytosis (LCH).
Methods: A retrospective chart review of electronic medical records (EMR) of patients with LCH managed at a Victorian Paediatric Tertiary Centre. Diagnosis term “Langerhans Cell Histiocytosis” was searched in the EMR and collated with the same search within the institution’s Oncology database. Patients excluded if a biopsy did not suggest LCH or if records were incomplete.
Results: 171 patients were identified and 133 records of patients diagnosed with LCH over the last 30 years were assessed for endocrinopathies from diagnosis to last documented follow up. Mean age at diagnosis was 5 years 8 months. 15.8% of patients (n=21) had confirmed central diabetes insipidus (CDI), whilst 10% of patients (n=13) had documented endocrine features other than CDI. Of these, almost 70% were growth hormone deficient (n=9). Almost half of patients (46%) were pre-pubertal at the time of audit or upon discharge from tertiary services. Of all records assessed, 7.5% of patients had more than one endocrinopathy noted during their follow up for LCH.
Conclusions: Pituitary assessment as a component of managing LCH is imperative especially as features other than CDI suggesting impact on hypothalamic-pituitary axis (for example GHD and gonadotropin deficiency) can be subtle, late and missed. Close follow up of growth and progression through puberty, even if discharged from tertiary care, is essential.