下垂体前葉機能低下症

The hypothalamic-pituitary region can be affected by a wide and heterogeneous group of infiltrative and inflammatory disorders, including granulomatous, histiocytic, storage, infectious, non-pituitary neoplastic, and autoimmune or inflammatory conditions collectively grouped as hypophysitis. Although individually rare, these disorders are increasingly recognized due to growing awareness, wider use of pituitary imaging, and the emergence of immune checkpoint inhibitor-induced hypophysitis. They typically present with hypopituitarism (often including arginine vasopressin deficiency, which, particularly when accompanied by pituitary stalk thickening, is highly suggestive of a non-adenomatous lesion) together with mass effect symptoms and, in many cases, systemic manifestations reflecting extrapituitary organ involvement. Neuroimaging findings, while rarely pathognomonic, can narrow the differential diagnosis, particularly when pituitary stalk involvement is present: symmetric stalk/gland enlargement with homogeneous enhancement suggests lymphocytic, IgG4-related, or granulomatous hypophysitis, whereas rim enhancement, necrosis, or bone-destructive lesions point toward infectious or neoplastic causes. A structured diagnostic work-up, combining clinical history, hormonal evaluation, targeted laboratory testing, pituitary and systemic imaging, and, when necessary, histopathological confirmation, is essential to establish an accurate diagnosis before committing patients to long-term immunosuppression or unnecessary pituitary surgery. Management requires two parallel strategies: prompt hormone replacement therapy, with urgent attention to corticotroph deficiency, and disease-specific treatment tailored to the underlying etiology, ranging from glucocorticoids and immunosuppressants to antimicrobial therapy, targeted oncologic agents, or surgery. Because pituitary deficits are frequently irreversible and several of these disorders follow a relapsing course, long-term multidisciplinary follow-up is warranted. This review summarizes the pathophysiology, clinical presentation, diagnostic approach and neuroimaging features, for infiltrative and inflammatory hypothalamic-pituitary disorders, aiming to facilitate their timely recognition and appropriate management.

Primary central nervous system lymphoma (PCNSL) involving the hypothalamic-pituitary axis is a rare condition and may present with nonspecific neurologic and endocrine signs, often mimicking more common sellar lesions. We report the case of a 59-year-old woman admitted with subacute behavioral changes, cognitive decline, and polyuria. Magnetic resonance imaging revealed a pituitary-infundibular mass with suprasellar extension and marked bifrontal edema. Endocrine evaluation demonstrated panhypopituitarism and arginine vasopressin deficiency. The clinical course was complicated by severe dysnatremias requiring intensive care management and hormonal replacement. Histopathologic analysis of a transsphenoidal biopsy confirmed diffuse large B-cell lymphoma, with no systemic disease on PET-CT or bone marrow evaluation. The patient was treated with the MATRix chemotherapy regimen followed by autologous stem cell transplantation, achieving sustained complete remission at 3.5 years. Persistent hypogonadotropic hypogonadism remained as a sequelae. This case underscores the diagnostic challenges of sellar involvement by PCNSL and highlights the importance of including lymphoma in the differential diagnosis of hypothalamic-pituitary masses. Acute pituitary failure with severe electrolyte disturbances may precede oncologic diagnosis, and early multidisciplinary management combined with aggressive therapy can result in long-term remission.

RATIONALE: POEMS syndrome is a rare paraneoplastic syndrome, manifesting with progressive distal polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes, which has multisystem manifestations and chronic cytokine overproduction. Pituitary abscess is also a rare life-threatening disease that could lead to panhypopituitarism. We report a case of pituitary abscess with high suspicion of POEMS syndrome, which to our knowledge has not been reported previously. PATIENT CONCERNS: The co-presentation of pituitary abscess and POEMS-like syndrome is rare and its clinical manifestations are complex, making it easy to miss diagnosis and misdiagnosis. Long-term disease management and follow-up is crucial under this condition. DIAGNOSIS: The patient was admitted to outside hospital due to headache, impaired consciousness, and fever since April 2024. Initial test results suggested neuroinfection. Endocrine abnormalities revealed diabetes insipidus and panhypopituitarism, including central hypocortisolism, hypogonadism, and hyperprolactinemia. Pituitary-enhanced MRI revealed abnormal pituitary signals on T1- and T2-weighted images, with peripheral rim enhancement noted after gadolinium injection. Further examination revealed lymphadenopathy, polyneuropathy, skin changes, monoclonal gammopathy (lamda chain, M-protein), ascites, meeting the diagnostic criteria for POEMS syndrome. Bone marrow core biopsy showed no malignancy. Despite the normal VEGF level, the patient was diagnosed with pituitary abscess and possibly POEMS syndrome due to other clinical presentations. INTERVENTIONS: The patient underwent transsphenoidal resection of the pituitary gland lesions, antibiotic treatment and hormone replacement therapy with hydrocortisone and desmopressin. OUTCOMES: At 9 months of follow-up, the patient experienced recurrent fever, headache, and diabetes insipidus after discontinuation of hormone therapy. LESSONS: The diagnosis of complex comorbidities is based on the combination of clinical manifestations and laboratory tests, multidisciplinary and comprehensive assessment are of great significance for this disease.

BACKGROUND: Immune checkpoint inhibitors (ICIs) have achieved remarkable success in treating advanced cancers, yet the accompanying immune-related adverse events (irAEs) pose a major challenge to their clinical application. Growing evidence suggests an association between irAEs and improved clinical outcomes; however, the heterogeneity in this relationship warrants further exploration. CASE PRESENTATION: This article reports two cases of patients with advanced cancer who achieved long-term disease control after experiencing severe irAEs. Case one involved a patient with heavily pretreated Luminal B1 advanced breast cancer who developed Grade 3 immune-related arrhythmia and heart failure following treatment with Toripalimab combined with chemotherapy. Case two involved a patient with ROS1-fusion advanced lung adenocarcinoma who, after developing resistance to Crizotinib, received chemotherapy and Tislelizumab, leading to Grade 3 immune-related hypopituitarism, adrenal insufficiency, and cutaneous toxicity. Both patients were managed with corticosteroids with or without immunosuppressants and discontinued all antitumor therapies. Despite this, they have achieved a partial response (PR) with a duration of response (DoR) of 22 and 37 months, respectively, and both responses are ongoing at the time of this report. CONCLUSION: In this series, two patients with advanced solid tumors achieved durable tumor responses after developing severe irAEs and discontinuing treatment, suggesting that severe irAEs may herald the establishment of long-term immune memory. However, the association between irAEs and efficacy is not straightforward, as the type and severity of irAEs and the use of immunosuppressive intervention all influence the ultimate clinical benefit. In the absence of reliable predictive biomarkers, clinical decisions should not equate irAEs directly with efficacy markers; rather, the benefits and risks of immune activation should be carefully weighed.

Growth hormone deficiency (GHD) is a rare endocrine disorder affecting both children and adults that may occur in isolation or as part of multihormonal hypopituitarism. Recombinant human growth hormone (GH) administered as daily injections has long been the standard of care and improves growth, body composition and quality of life. However, daily administration is associated with a substantial treatment burden and adherence is frequently suboptimal, particularly in children and adolescents. Long-acting growth hormone (LAGH) formulations have been developed to reduce injection frequency and potentially support long-term adherence. Three once-weekly LAGH products are currently available in the EU: lonapegsomatropin, somatrogon and somapacitan. Clinical trials have demonstrated non-inferiority of LAGHs compared with daily GH in children in terms of annualised height velocity. Safety profiles were consistent with those of daily GH. This review summarises the clinical evidence for LAGH formulations, including patient preference and the impact on metabolism, bone health and muscle strength. With a focus on somapacitan, currently the only LAGH approved in France for both children and adults, the review discusses practical aspects of dosing and monitoring across age groups and addresses use in special populations and during the transition period from paediatric to adult care. Ongoing follow-up and real-world studies will further clarify long-term safety, adherence and metabolic outcomes.