Deficiência de arginina-vasopressina (diabetes insipidus central) como primeira manifestação de histiocitose de células de Langerhans: relato de caso
type: CreativeWork
description: Introduction: Langerhans cell histiocytosis (LCH) is a rare clonal neoplasm of the mononuclear phagocyte system characterized by proliferation of CD1a⁺/Langerin⁺ myeloid dendritic cells and activating mutations in the MAPK/ERK pathway (such as BRAF V600E and MAP2K1). Involvement of the hypothalamic–pituitary axis occurs in up to 30% of cases, presenting as arginine-vasopressin (AVP) deficiency—classically known as central diabetes insipidus (CDI)—often with panhypopituitarism. In adults, isolated pituitary disease is uncommon and frequently mimics sellar tumors. Methodology: This study is a clinical case report developed during the Medical Residency in Endocrinology and Metabolism at the HUPES/UFBA. Data were obtained retrospectively from clinical records and complementary tests, ensuring patient anonymity and confidentiality in accordance with Resolution No. 510/2016 of the Brazilian National Health Council. Case report: A 24-year-old white female with no prior comorbidities initially presented with polyuria estimated at 8 L/day and polydipsia. After 5 months, she developed amenorrhea associated with a moderate, band-like, frontal headache without radiation, progressing to bitemporal hemianopsia at 9 months. Laboratory work-up showed panhypopituitarism with 8 a.m. serum cortisol levels of 1.1 μg/dL and 1.9 μg/dL on different days; TSH 1.1 μIU/mL (reference 0.38–5.33); free T4 0.43 ng/dL (reference 0.54–1.24); FSH 1.56 mIU/mL; LH < 0.20 mIU/mL; estradiol < 15 pg/mL; IGF-1 43 ng/mL (reference 98–289); and hyperprolactinemia with PRL 83.23 ng/mL. Pituitary MRI revealed a 1.7 × 2.2 × 2.1 cm suprasellar lesion abutting the optic chiasm, suggestive of craniopharyngioma. She was admitted for endocrine evaluation and surgery, with documented polyuria of 10 L/day, water intake of 6 L/day, serum sodium of 147 mEq/L, and urine specific gravity < 1.005. Hydrocortisone, levothyroxine, and desmopressin were initiated. Endoscopic transsphenoidal surgery was performed; the macrosc…
abstract: Introduction: Langerhans cell histiocytosis (LCH) is a rare clonal neoplasm of the mononuclear phagocyte system characterized by proliferation of CD1a⁺/Langerin⁺ myeloid dendritic cells and activating mutations in the MAPK/ERK pathway (such as BRAF V600E and MAP2K1). Involvement of the hypothalamic–pituitary axis occurs in up to 30% of cases, presenting as arginine-vasopressin (AVP) deficiency—classically known as central diabetes insipidus (CDI)—often with panhypopituitarism. In adults, isolated pituitary disease is uncommon and frequently mimics sellar tumors. Methodology: This study is a clinical case report developed during the Medical Residency in Endocrinology and Metabolism at the HUPES/UFBA. Data were obtained retrospectively from clinical records and complementary tests, ensuring patient anonymity and confidentiality in accordance with Resolution No. 510/2016 of the Brazilian National Health Council. Case report: A 24-year-old white female with no prior comorbidities initially presented with polyuria estimated at 8 L/day and polydipsia. After 5 months, she developed amenorrhea associated with a moderate, band-like, frontal headache without radiation, progressing to bitemporal hemianopsia at 9 months. Laboratory work-up showed panhypopituitarism with 8 a.m. serum cortisol levels of 1.1 μg/dL and 1.9 μg/dL on different days; TSH 1.1 μIU/mL (reference 0.38–5.33); free T4 0.43 ng/dL (reference 0.54–1.24); FSH 1.56 mIU/mL; LH < 0.20 mIU/mL; estradiol < 15 pg/mL; IGF-1 43 ng/mL (reference 98–289); and hyperprolactinemia with PRL 83.23 ng/mL. Pituitary MRI revealed a 1.7 × 2.2 × 2.1 cm suprasellar lesion abutting the optic chiasm, suggestive of craniopharyngioma. She was admitted for endocrine evaluation and surgery, with documented polyuria of 10 L/day, water intake of 6 L/day, serum sodium of 147 mEq/L, and urine specific gravity < 1.005. Hydrocortisone, levothyroxine, and desmopressin were initiated. Endoscopic transsphenoidal surgery was performed; the macrosc…
author: Costa, Filipe Quadros
language: por
keywords: Histiocitose de células de Langerhans, Diabetes insipidus central, Endocrinologia
date published: 2025
date modified: 2026-07-27T22:07:50Z
provider: Brazil UFBA
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Universidade Federal da Bahia