Introduction: Langerhans cell histiocytosis (LCH) is a rare multisystem disease. Pituitary manifestations include failure of the anterior and/or posterior pituitary, with diabetes insipidus and gonadotrophine deficiency being most prevalent. We present a case of a female who had pituitary failure yet conceived naturally following chemotherapy.
Case description: A 24-year-old female presented with polydipsia, polyuria, and lethargy. A water deprivation test was diagnostic of cranial diabetes insipidus. MRI showed thickening of the infundibulum and an abnormal pituitary. She initially responded well to DDAVP but following a miscarriage developed progressive anterior pituitary functional failure requiring thyroxine, hydrocortisone, and GH replacement. She had secondary amenorrhoea and did not tolerate HRT or OCP. At age of 36 she developed new and increasing breathlessness, which prompted further investigation. HRCT confirmed progressive diffuse pulmonary shadowing and histology following VATS biopsy was consistent with LCH presumed to be involving the pituitary gland and the lungs. Owing to increasing respiratory dysfunction she was being considered for lung transplantation and the decision was made to treat her with four cycles of chorodeoxyadenosine (cladribine or 2-CDA) and this was followed with 1 year of 6-mercaptopurine. Prior to chemotherapy she was referred for ovum harvest and possible IVF. Following chemotherapy, her periods returned but in an irregular manner. One year later, she had a LHRH test with LH rose from 3.8 to 23 and FSH from 2.9 to 6.8. She is now 42 years old and has just found out that she is 26 weeks pregnant, something that she never thought possible.
Discussion: The case demonstrates functional pituitary recovery post cladribine and 6-mercaptopuirine in a patient with LCH.