Endocrine Manifestations in a Monocentric Cohort of 64 Patients With Erdheim-Chester Disease.

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.

[Management of families at high risk for hereditary breast-ovarian cancers: the endocrinologist's point of view]. / Attitude pratique devant une famille à haut risque de cancer du sein et/ou de l'ovaire: le point de vue de l'endocrinologue.

Most cancers have a sporadic physiopathology, but approximately 5 to 10% of breast cancers and 10% of ovarian cancers involve a genetic predisposition. Sometimes, the gene involved in these hereditary cancers can be identified (usually BRCA1 or 2), but most of the time it remains unknown. However, all women considered at high risk, because of their familial history, must be identified so they can be provided with the most adequate care, since the probability is very high that they develop such a cancer in the future. Fortunately, effective strategies have been developed to reduce this risk. Early detection of breast cancer is possible and prophylactic treatments (chemoprevention and prophylactic surgery) exist for both breast and ovarian cancers. Another reason why it is essential that these high risk women are identified is that treatment for hereditary cancers differs in some ways from that of sporadic cancers. It is best that counseling be given in an interdisciplinary cancer genetic clinic, where all practionners are aware of the latest data and guidelines.