[Recurrent episodes of brushite nephrolithiasis revealing primary hyperparathyroidism]. / Néphrolithiases récurrentes de brushite révélant une hyperparathyroïdie primaire.

INTRODUCTION: Nephrolithiasis is a frequent disease observed in 1 to 20 % of the general population. This disease predominates in male patients (2:1) and is characterized by a high rate of recurrences (about 50 %). CASE REPORT: We report the case of a 45-year old male patient who experienced during about ten years recurrent bilateral renal colic episodes due to brushite lithiasis. These stones were treated with multiple extracorporeal shock wave lithotripsy sessions. A pyeloureteral junction syndrome predisposing to bulky stones formation has been put in evidence and required a pyeloplasty. After more than ten years of disease activity, a biochemical screening diagnosed primary hyperparathyroidism (PHPT). Radiological assessment identified a parathyroid gland adenoma. Successful surgical removal of this lesion was followed by resolution of the symptomatic kidney stones formation. DISCUSSION: PHPT is associated with kidney stones in about 20 % of the patients. Hypercalciuria is the main risk factor of stones formation but other predisposing factors are also probably involved. Patients carrying a polymorphism located in the coding sequence of the calcium-sensing receptor gene or in the regulatory region of this gene seem to experience an increased occurrence of urinary lithiasis. CONCLUSION: The present case stresses the importance of a metabolic assessment in all patients with recurrent nephrolithiasis, especially in case of bilateral episodes.

Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey.

Background: Patients with Cushing syndrome (CS) are at increased risk of venous thromboembolism (VTE). Objective: The aim was to evaluate the current management of new cases of CS with a focus on VTE and thromboprophylaxis. Design and methods: A survey was conducted within those that report in the electronic reporting tool (e-REC) of the European Registries for Rare Endocrine Conditions (EuRRECa) and the involved main thematic groups (MTG's) of the European Reference Networks for Rare Endocrine Disorders (Endo-ERN) on new patients with CS from January 2021 to July 2022. Results: Of 222 patients (mean age 44 years, 165 females), 141 patients had Cushing disease (64%), 69 adrenal CS (31%), and 12 patients with ectopic CS (5.4%). The mean follow-up period post-CS diagnosis was 15 months (range 3-30). Cortisol-lowering medications were initiated in 38% of patients. One hundred fifty-four patients (69%) received thromboprophylaxis (including patients on chronic anticoagulant treatment), of which low-molecular-weight heparins were used in 96% of cases. VTE was reported in six patients (2.7%), of which one was fatal: two long before CS diagnosis, two between diagnosis and surgery, and two postoperatively. Three patients were using thromboprophylaxis at time of the VTE diagnosis. The incidence rate of VTE in patients after Cushing syndrome diagnosis in our study cohort was 14.6 (95% CI 5.5; 38.6) per 1000 person-years. Conclusion: Thirty percent of patients with CS did not receive preoperative thromboprophylaxis during their active disease stage, and half of the VTE cases even occurred during this stage despite thromboprophylaxis. Prospective trials to establish the optimal thromboprophylaxis strategy in CS patients are highly needed. Significance statement: The incidence rate of venous thromboembolism in our study cohort was 14.6 (95% CI 5.5; 38.6) per 1000 person-years. Notably, this survey showed that there is great heterogeneity regarding time of initiation and duration of thromboprophylaxis in expert centers throughout Europe.

[Non-functioning pituitary adenoma: is there an interest to treat a residue after surgery?]. / Adénome hypophysaire non sécrétant: faut-il traiter un résidu après chirurgie?

Diagnosis of non-functioning pituitary adenoma is generally posted when there is a compression of the ophthalmic nerve or when a hypopituitarism occurred. Surgery will be the first treatment but complete removal can be achieved in less than 50% of the patients. In the great majority of the patients, there is a recurrence and a new treatment is proposed. The question is when we must treat a residue after surgery. We performed a retrospective study reviewing a series of 111 patients with a non-functioning pituitary adenoma. All patients had a pre- and post-operative MRI (1.5 T). A statistical analysis was done to determine the influence of the resection, the age of the patient on the recurrence. A complete removal was achieved for 45 patients and 11 of these present a recurrence. 39 patients out of 66 patients who had a partial removal presented also a recurrence. The mean age of the population is 53 years. The statistical analysis demonstrates that patients with a complete removal had less recurrence. Patient with an age below 60 years had more frequently a recurrence compared with older than 60 years old. In conclusion, treatment for non-functioning pituitary adenoma is a transsphenoidal approach surgery. A complete surgery must be the aim of the neurosurgeon. And when a residue is present, a secondary treatment must be given for patient with an age below 60 years old like radiosurgery or radiation therapy.

[Does sleep apnea disappear once acromegaly is adequately treated?]. / Les apnées du sommeil disparaissent-elles une fois l'acromégalie traitée ?

Acromegaly is a rare hormonal disease related to excessive growth hormone secretion. It can result in a range of complications, including cardiovascular, respiratory, metabolic, articular and neoplastic disorders. Among patients with the condition, obstructive sleep apnea syndrome occurs frequently and the effect of treatment is inconstant: improvement, statu quo or deterioration can be observed. We here report three clinical cases, which illustrate the unpredictable evolution of this condition.