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Introduction L’atteinte hypothalamo-hypophysaire (HH) au cours de la sarcoïdose est rare, inférieure à 1 %, et peu décrite. L’infiltration granulomateuse peut entraîner des insuffisances antéhypophysaires, une hyperprolactinémie de déconnection et un diabète insipide. L’objectif de notre travail était de mieux décrire les atteintes HH au cours de la sarcoïdose, afin d’améliorer le diagnostic et la prise en charge. Patients et méthodes Une étude multicentrique rétrospective a permis d’inclure 32 patients avec une sarcoïdose systémique avec atteinte HH, diagnostiqués entre 1991 et 2016. Nous avons réalisé une analyse descriptive des données cliniques, biologiques, hormonales et radiologiques. Résultats Parmi les 32 patients inclus, il y avait 18 femmes et 14 hommes. L’âge moyen au diagnostic de sarcoïdose HH était de 40,5 ans (± 13,4). La majorité des patients ( n = 29) présentaient des symptômes compatibles avec un dysfonctionnement hormonal : asthénie ( n = 19), aménorrhée ( n = 12/14 femmes en âge de procréer), dysfonction érectile et/ou diminution de la libido ( n = 10/14 hommes). Trente et un patients avaient une insuffisance antéhypophysaire : 25 déficits gonadotropes (78 %), 20 déficits thyréotropes (65 %), 11 déficits somatotropes (46 %) et 2 déficits corticotropes. Presque la moitié des patients ( n = 15) avait un diabète insipide, dont 1 seul cas d’hypernatrémie à 149 mmol/L. Une hyperprolactiémie a été mesurée chez 24 patients (77 %). Un syndrome hypothalamique a été retrouvé chez 6 patients (19 %), caractérisé par une prise de poids massive en quelques mois (médiane 22 kg). Des anomalies radiologiques étaient quasi constantes sur l’IRM ( n = 31) : épaississement focal ou diffus de la tige pituitaire ( n = 20), infiltration de l’hypothalamus ou du plancher du 3 e ventricule ( n = 17), anomalies hypophysaires ( n = 11). Tous les patients avaient une sarcoïdose multisystémique avec comme localisations principales : ganglionnaire ( n = 24), pulmonaire ( n = 23) et neurologique ( n = 18), dont 5 patients asymptomatiques avec des anomalies IRM isolées. Les atteintes ORL étaient fréquentes avec une localisation naso-sinusienne pour 10 patients (31 %) et 9 cas de parotidites (28 %). L’enzyme de conversion était augmentée dans 68 % des cas ( n = 19/28) et 3 patients avaient une hypercalcémie. Le diagnostic histologique de sarcoïdose a été établi pour 26 patients. La quasi-totalité des patients a été traitée par corticothérapie ( n = 29), le plus souvent en association avec un autre immunosuppresseur ( n = 20) : méthotrexate ( n = 11), infliximab ( n = 7) ou mycophénolate mofétil ( n = 5). La durée moyenne de suivi était de 10 ans (± 7,5). Parmi les patients recontrôlés sur le plan hormonal : 11 avaient une prolactine normalisée (58 %), 8 avaient récupéré une fonction gonadotrope (30 %) et 1 seul avait récupéré sa fonction thyréotrope. Aucune guérison de diabète insipide n’a été rapportée. Seuls 10 patients (31 %) étaient considérés en rémission de leur sarcoïdose à la fin du suivi. Conclusion Les déficits gonadotrope, thyréotrope et l’hyperprolactinémie sont les atteintes les plus fréquentes dans notre étude réalisée sur la plus grande cohorte de sarcoïdose HH. Une récupération de la fonction gonadotrope a été observée dans 30 % des cas après traitement. La moitié des cas présente un diabète insipide définitif. Les patients avec atteinte HH ont tous une sarcoïdose multisystémique, et il semblerait que les localisations naso-sinusiennes et parotidiennes soient plus fréquentes. [ABSTRACT FROM AUTHOR]

Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequently involved in pheochromocytoma/paraganglioma (PPGL) development and were implicated in patients with the '3PAs' syndrome (associating pituitary adenoma (PA) and PPGL) or isolated PA. However, the causality link between SDHx mutation and PA remains difficult to establish, and in vivo tools for detecting hallmarks of SDH deficiency are scarce. Proton magnetic resonance spectroscopy (1H-MRS) can detect succinate in vivo as a biomarker of SDHx mutations in PGL. The objective of this study was to demonstrate the causality link between PA and SDH deficiency in vivo using 1H-MRS as a novel noninvasive tool for succinate detection in PA. Three SDHx-mutated patients suffering from a PPGL and a macroprolactinoma and one patient with an apparently sporadic non-functioning pituitary macroadenoma underwent MRI examination at 3 T. An optimized 1H-MRS semi-LASER sequence (TR = 2500 ms, TE = 144 ms) was employed for the detection of succinate in vivo. Succinate and choline-containing compounds were identified in the MR spectra as single resonances at 2.44 and 3.2 ppm, respectively. Choline compounds were detected in all the tumors (three PGL and four PAs), while a succinate peak was only observed in the three macroprolactinomas and the three PGL of SDHx-mutated patients, demonstrating SDH deficiency in these tumors. In conclusion, the detection of succinate by 1H-MRS as a hallmark of SDH deficiency in vivo is feasible in PA, laying the groundwork for a better understanding of the biological link between SDHx mutations and the development of these tumors.

Context: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to classical pituitary acromegaly. Identifying the underlying cause for the GH hypersecretion in the setting of ectopic GHRH excess is, however, essential for proper management both of acromegaly and the NET. Owing to the rarity of NETs, the imaging characteristics of the pituitary in ectopic acromegaly have not been analyzed in depth in a large series., Objective: Characterize pituitary magnetic resonance imaging (MRI) features at baseline and after NET treatment in patients with ectopic acromegaly., Design: Multicenter, international, retrospective., Setting: Tertiary referral pituitary centers., Patients: Thirty ectopic acromegaly patients having GHRH hypersecretion., Intervention: None., Main Outcome Measure: MRI characteristics of pituitary gland, particularly T2-weighted signal., Results: In 30 patients with ectopic GHRH-induced acromegaly, we found that most patients had hyperplastic pituitaries. Hyperplasia was usually moderate but was occasionally subtle, with only small volume increases compared with normal ranges for age and sex. T2-weighted signal was hypointense in most patients, especially in those with hyperplastic pituitaries. After treatment of the NET, pituitary size diminished and T2-weighted signal tended to normalize., Conclusions: This comprehensive study of pituitary MRI characteristics in ectopic acromegaly underlines the utility of performing T2-weighted sequences in the MRI evaluation of patients with acromegaly as an additional tool that can help to establish the correct diagnosis., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objective: Bone biopsy (BB) performed by a surgeon or an interventional radiologist is recommended for suspicion of osteomyelitis underlying diabetic foot ulcer (DFU). To facilitate its practice, we developed a procedure allowing bedside blind bone biopsy (B4) by a diabetologist., Research Design and Methods: We conducted a three-step observational study consisting of a feasibility and safety phase (phase 1) to assess the success and side effects of B4, a validity phase (phase 2) to compare DFU outcomes between positive (B4+) and negative (B4-) bone cultures, and a performance phase (phase 3) to compare B4 with the conventional surgical or radiological procedure basic bone biopsy (B3). Primary end points were the presence of bone tissue (phase 1) and complete DFU healing with exclusive medical treatment at 12 months (phases 2 and 3)., Results: In phase 1, 37 consecutive patients with clinical and/or radiological suspicion of DFU osteomyelitis underwent B4. Bone tissue was collected in all patients with few side effects. In phase 2, a B4+ bone culture was found in 40 of 79 (50.6%) participants. Among B4+ patients, complete wound healing after treatment was 57.5%. No statistical difference was observed with patients with B4- bone culture not treated with antibiotics (71.8%, P = 0.18). In phase 3, the proportion of patients with positive BB was lower in B4 (40 of 79, 50.6%) than in B3 (34 of 44, 77.3%, P < 0.01). However, complete healing was similar (64.6% vs. 54.6%, P = 0.28). No difference in rate of culture contamination was observed., Conclusions: B4 is a simple, safe, and efficient procedure for the diagnosis of DFU osteomyelitis with a similar proportion of healing to conventional BB., (© 2021 by the American Diabetes Association.)

Background: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D., Methods: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child's environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods., Results: We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age., Conclusions: The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas., Trial Registration: Clinical-Trial.gov NCT02212522 . Registered August 6, 2014.