Annales d'endocrinologie最新文献

Ectopic ACTH-secreting pituitary adenoma, arising outside the sella turcica from residual cells of Rathke's pouch, is an exceptionally rare cause of Cushing's syndrome. Diagnosis is often challenging and may be late despite extensive clinical and biochemical work-up. We report here an ectopic corticotroph tumor of the maxillary sinus, which was finally localized by 18F-FDG PET/CT and somatostatin receptor scintigraphy. A 38-year-old woman was referred for suspicion of ACTH-dependent Cushing's syndrome. Biological testing was indicative of ectopic ACTH secretion; however, extensive investigation failed to identify any culprit tumor. In contrast, pituitary MRI revealed a doubtful 4-mm right-side pituitary lesion, leading to hypophysectomy, without clinical or biochemical remission. After pituitary surgery, medical therapy was initiated but had limited efficacy, and bilateral adrenalectomy was subsequently performed. Following the adrenalectomy, the patient developed hyperpigmentation due to elevated ACTH levels. ¹⁸F-FDG PET/CT and somatostatin receptor scintigraphy (Octreoscan®), years after initial diagnosis, revealed a hypermetabolic lesion in the maxillary sinus. Surgical resection identified an ectopic ACTH-secreting pituitary adenoma expressing ACTH and T-Pit; a marked decrease in plasma ACTH was observed postoperatively. In conclusion, we report a case of ACTH-dependent Cushing's syndrome, caused by an ectopic corticotroph adenoma located in the maxillary sinus. This case illustrates the diagnostic challenges in localizing ectopic ACTH-secreting pituitary adenomas and highlights the value of nuclear medicine imaging in identifying these unusual lesions.

The term refractory hypothyroidism is used to describe the condition in which patients require levothyroxine doses higher than expected for their age and weight (>1.9-2.5 μg/kg/day). Its prevalence is not well defined. Refractory hypothyroidism is not related to thyroid hormone resistance, while most common causes include non-compliance (also known as pseudomalabsorption) and malabsorption. Malabsorption can be caused by food and/or medication interactions as well as digestive pathologies such as gastritis, coeliac disease, lactose intolerance, or a history of digestive surgery. Less commonly, refractory hypothyroidism is caused by increased thyroid hormone degradation due to elevated expression of type 3 deiodinase, typically related to hemangiomatous tumors or tyrosine kinase inhibitors treatment. Medical history and clinical examination will help to guide the diagnosis and etiological investigations. Screening for associated deficiencies and digestive auto immune diseases can direct the diagnosis towards a digestive pathology. A levothyroxine absorption test may be performed to confirm true malabsorption and avoid more invasive tests such as digestive endoscopies.

Objective: The aim of the study was to investigate bone comorbidities and their management in patients included in the European Register on Cushing`s syndrome (ERCUSYN).

Design: A retrospective multicentric cohort study and on-line survey.

Methods: We analyzed the prevalence of osteoporosis (OP) and fractures among 1682 patients with Cushing`s syndrome (CS), at initial evaluation and during follow-up. All the ERCUSYN partners received a survey addressing bone disease management in CS.

Results: Seven hundred and sixty-six patients (45%) had DXA examination at baseline, of whom 157 (21%) presented OP at spine and 103 (13%) at hip. Risk factors for OP were older age (p=0.038) and lower BMI (p=0.022). An X-ray was performed in 492 (29%) patients and fracture was detected in 87 (18%). Risk factors for fractures at baseline were male sex (p<0.001), muscle weakness (p=0.026) and bone mineral density (BMD) at hip indicating OP (p=0.026). During follow-up, spine BMD deterioration was more common in older patients (p=0.005) and in those with diabetes mellitus (p=0.024), while worsening of hip BMD was more frequent in patients with hypopituitarism (p=0.021), diabetes mellitus (p=0.034), on levothyroxine substitution (p=0.008) and those less often treated with anti-osteoporotic agents (p=0.022). The survey evidenced significant heterogeneity in terms of timing of bone evaluation and treatment initiation.

Conclusions: A significant number of patients with CS experienced OP and fractures. Clinical factors may help to select patients at the highest risk. There are currently no standards of care for the management of bone complications in CS across Europe.

Tirzepatide is a novel dual glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) receptor agonist approved for the treatment of type-2 diabetes and for weight management. While generally well-tolerated, common adverse effects include gastrointestinal symptoms such as nausea and vomiting. Hepatotoxicity is not a widely recognized complication of tirzepatide, and reported cases of liver injury are exceedingly rare. As its use expands beyond diabetic populations, emerging safety concerns are increasingly relevant to clinical practice.We report a case of a young, previously healthy female who developed acute hepatocellular liver injury several months after initiating tirzepatide therapy for weight loss. Following dose escalation, she experienced recurrent episodes of abdominal pain radiating to the back. Workup revealed a hepatocellular pattern of injury, with exclusion of viral, autoimmune, biliary or structural causes. Symptoms resolved and liver enzymes normalized within 3 weeks of presentation.This case adds to the limited but growing body of literature on tirzepatide-associated hepatotoxicity and emphasizes the importance of considering drug-induced liver injury even with newer agents believed to have favorable safety profiles.

Lipodystrophy syndromes are rare diseases characterized by anatomical and functional defects of adipose tissue, frequently leading to severe insulin resistance-associated metabolic complications. Subtypes of lipodystrophy syndromes differ in: their clinical presentation, with generalized or partial loss of adipose tissue; in their origin, either genetic or acquired; and in their comorbidities, forming a heterogeneous group of disorders of different severity. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of health professionals, scientists and patient associations. ECLip aims to promote international collaborations to increase pathophysiological and clinical knowledge, and improve the management of lipodystrophy syndromes. ECLip now comprises 59 groups from 30 countries from Europe and beyond. The consortium developed in parallel to the increased awareness of clinical diagnosis, the growing scientific interest for these diseases at the crossroads between adipose tissue biology, whole body metabolism, genetics and immunity, and to the emergence of new pharmacological approaches. The ECLip congress, held every 18 months, aims to discuss the recent achievements and projects in the field of lipodystrophies, to consolidate ECLip activities and to promote future collaborations, highlighting clinical and fundamental aspects as well as patients' perspectives. Oral communications presented during the meeting in Paris, France, in 2025 are summarized in these minutes.