Endocrine Abstracts

Introduction: Langerhans Cell Histiocytosis (HCL) is a rare granulomatous disease, unknown etiology, with a wide clinical spectrum. The pituitary is affected in 25% of cases, with diabetes insipidus being the earliest and most frequent feature. Although it is more common in pediatric age, it can also be developed by adults.

Clinical case: A 39-year-old, caucasian, woman presents with polydipsia with 5L/day of water and an appetite for cold drinks, polyuria with nicturia and amenorrhea, with two years of evolution. In association, complaints of vaginal itching and dryness. She had been medicated with fluvoxamine, bisoprolol, zolpidem and alprazolam since an year ago for an anxiety disorder. On physical examination she presents with no characteristic biotipe, hemodynamically stable BMI 29.3 kg/m2. The gynecological examination revealed vesicular and ulcerated lesions of various dimensions and in different stages of healing in the vulvar region.

Analytically: A sodium of 152 mmol /l (135–145), a low urinary density (1003) and a low urinary osmolarity (108 mOsm/kg). All the other pituitary hormonal lineages were normal. A pituitary MRI revealed the absence of the hypersignal in T1 in the neurohypophysis and thickening of the pituitary stalk. Central diabetes insipidus was confirmed and she started on 0.06mg oral desmopressin 2 times/day, with improvement of symptoms. Given the persistence of absence of menstruation, but without primary hypogonadism, we performed the LHRH stimulation test that was normal. The complementary investigation excluded autoimmune, infectious and neoplasic disease. The biopsy of a vulvar lesion and subsequent immunohistochemical revealed positivity for the CD1a and S100 markers, confirming HCL etiology. The involvement of organs such as the spleen, liver, lung and bone marrow were excluded. She started on chemotherapy with cladribine and a genital typical application of activated antifungal. The genital lesions disappeared although she remained in amenorrhea and with central diabetes insipidus in the pituitary MRI there has been no progression of the disease.

Discussion: This case intends to highlight a great heterogeneity of clinical manifestations caused by HCL, usually the definitive diagnosis is difficult to achieve. In this particular case the biopsy of the vulvar lesions gave the final diagnosis. It is not consensual that chemotherapy is beneficial for these patients although in this case seemed to help the healing of the vulvar lesions without progression of pituitary disease.