C Courtillot1, S Laugier Robiolle1, F Cohen Aubart1, M Leban1, R Renard-Penna1, A Drier1, F Charlotte1, Z Amoura1, P Touraine1, J Haroche1. 1. Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocriniennes Rares de la Croissance (C.C., P.T.), Endocrinologie et Maladies Métaboliques (S.L.R.), Médecine Interne, Centre de Référence des Maladies Auto Immunes et Systémiques Rares, Lupus et Syndrome des Anticorps Antiphospholipides (F.C.A., Z.A., J.H.), Biochimie Hormonale (M.L.), Radiologie (R.R.-P.), Neuroradiologie (A.D.), and Anatomie Pathologique (F.C.), Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires La Pitié-Salpêtrière-Charles Foix, 75013 Paris, France; and Centre Hospitalier Universitaire de Poitiers (S.L.R.), 86021 Poitiers, France.
Abstract
CONTEXT: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, characterized by infiltration of foamy histiocytes in multiple organs. Endocrine involvement has mostly been described in case reports. OBJECTIVE: We performed systematic endocrine evaluation in a large cohort of patients with ECD. DESIGN: This was a single-center observational study conducted between October 2007 and May 2013. SETTING: The evaluation was conducted in Pitié-Salpêtrière Hospital (Paris, France), a tertiary care hospital. PATIENTS: Sixty-four consecutive patients with ECD (sex ratio, 3.6; mean age, 57.6 years [range, 20-80 years]). Thirty-six patients had follow-up assessments. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: Clinical, biological, and morphological evaluations of pituitary, gonadal, adrenal, and thyroid functions, as well as metabolic evaluation, were performed. RESULTS: Diabetes insipidus was found in 33.3% of patients, frequently as the first manifestation of ECD. Anterior pituitary dysfunction was found in 91.3% of patients with full anterior pituitary evaluation, including somatotropic deficiency (78.6%), hyperprolactinemia (44.1%), gonadotropic deficiency (22.2%), thyrotropic deficiency (9.5%), and corticotropic deficiency (3.1%). Thirty-five patients (54.7%) had ≥2 anterior pituitary dysfunctional axes, rising to 69.6% (16 of 23) when only patients with complete evaluations were considered. Two patients had panhypopituitarism. Infiltration of the pituitary and stalk was found with magnetic resonance imaging in 24.4% of patients. Testicular insufficiency was found in 53.1% of patients, with sonographic testicular infiltration in 29% of men, mostly bilateral. Computed tomography adrenal infiltration was found in 39.1% of patients, and 1 case of adrenal insufficiency was observed. No patient was free of endocrine hormonal or morphological involvement. Endocrine dysfunctions were most often permanent, and new deficits appeared during follow-up. CONCLUSION: Endocrine involvement is very frequent in ECD and should be evaluated carefully at diagnosis and during follow-up.
CONTEXT: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, characterized by infiltration of foamy histiocytes in multiple organs. Endocrine involvement has mostly been described in case reports. OBJECTIVE: We performed systematic endocrine evaluation in a large cohort of patients with ECD. DESIGN: This was a single-center observational study conducted between October 2007 and May 2013. SETTING: The evaluation was conducted in Pitié-Salpêtrière Hospital (Paris, France), a tertiary care hospital. PATIENTS: Sixty-four consecutive patients with ECD (sex ratio, 3.6; mean age, 57.6 years [range, 20-80 years]). Thirty-six patients had follow-up assessments. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: Clinical, biological, and morphological evaluations of pituitary, gonadal, adrenal, and thyroid functions, as well as metabolic evaluation, were performed. RESULTS:Diabetes insipidus was found in 33.3% of patients, frequently as the first manifestation of ECD. Anterior pituitary dysfunction was found in 91.3% of patients with full anterior pituitary evaluation, including somatotropic deficiency (78.6%), hyperprolactinemia (44.1%), gonadotropic deficiency (22.2%), thyrotropic deficiency (9.5%), and corticotropic deficiency (3.1%). Thirty-five patients (54.7%) had ≥2 anterior pituitary dysfunctional axes, rising to 69.6% (16 of 23) when only patients with complete evaluations were considered. Two patients had panhypopituitarism. Infiltration of the pituitary and stalk was found with magnetic resonance imaging in 24.4% of patients. Testicular insufficiency was found in 53.1% of patients, with sonographic testicular infiltration in 29% of men, mostly bilateral. Computed tomography adrenal infiltration was found in 39.1% of patients, and 1 case of adrenal insufficiency was observed. No patient was free of endocrine hormonal or morphological involvement. Endocrine dysfunctions were most often permanent, and new deficits appeared during follow-up. CONCLUSION: Endocrine involvement is very frequent in ECD and should be evaluated carefully at diagnosis and during follow-up.
Authors: Sara G Haroutunian; Kevin J O'Brien; Juvianee I Estrada-Veras; Jianhua Yao; Louisa C Boyd; Kavya Mathur; William A Gahl; S Mojdeh Mirmomen; Ashkan A Malayeri; David E Kleiner; Elaine S Jaffe; Bernadette R Gochuico Journal: J Clin Med Date: 2018-08-28 Impact factor: 4.241
Authors: Skand Shekhar; Ninet Sinaii; Jorge A Irizarry-Caro; William A Gahl; Juvianee I Estrada-Veras; Rahul Dave; Georgios Z Papadakis; Amit Tirosh; Brent S Abel; Joanna Klubo-Gwiezdzinska; Monica C Skarulis; Bernadette R Gochuico; Kevin O'Brien; Fady Hannah-Shmouni Journal: JAMA Netw Open Date: 2020-10-01