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Idiopathic hypothalamitis is a rare condition that can cause anterior pituitary dysfunction and central diabetes insipidus (CDI), occasionally accompanied by a disturbance of autonomic regulation known as hypothalamic syndrome. This condition has been described as a subtype of autoimmune (lymphocytic) hypophysitis; however, some cases of isolated hypothalamic involvement with no inflammatory lesions in either the pituitary gland or infundibulum have been reported. The detailed epidemiology and pathophysiology of isolated hypothalamitis have not been clarified. We herein report a case of a solitary hypothalamic lesion in a young woman who showed spontaneous development of CDI and panhypopituitarism accompanied by hyperphagia. The hypothalamic lesion increased from 11 × 7 to 17 × 7 mm over 16 months based on the sagittal slices of magnetic resonance imaging examinations. The negative results for anti-pituitary antibodies and anti-Rabphilin-3A antibodies suggested that upward extension of lymphocytic adenohypophysitis or infundibulo-neurohypophysitis was unlikely. Infectious disease, granulomatosis, Langerhans cell histiocytosis, vasculitis, and systemic neoplastic diseases were excluded by the findings of a laboratory investigation, cerebrospinal fluid examination, and imaging studies. To make a definitive diagnosis, we performed a ventriculoscopic biopsy of the hypothalamic lesion. Histology revealed an infiltration of nonspecific lymphoplasmacytes with no evidence of neoplasm, which was consistent with a diagnosis of idiopathic hypothalamitis. Subsequently, the patient was treated with methylprednisolone pulse therapy followed by oral prednisolone. The hypothalamic lesion improved and remained undetectable after withdrawal of the prednisolone, suggesting that the glucocorticoid treatment was effective for isolated hypothalamitis while the patient remains dependent on the replacement of multiple hormones.

Hypophysitis, which is often accompanied by pituitary dysfunction, is classified into several subtypes based on the cause, histology, and the location of inflammation in the pituitary gland. A definitive diagnosis requires pituitary biopsy, which is invasive, and the process is limited to specialized clinical settings. In this opinion paper, we review the literature associated with hypophysitis, and provide the guidelines of the Japan Endocrine Society for the diagnosis and treatment of autoimmune and IgG4-related hypophysitis.

Background: Primary intracranial germ cell tumors (IGCTs) represent an uncommon category of neoplasms, and familial occurrence is rare. We present the first report of parent-child patients with pathologically confirmed pure germinomas., Case Report: A 36-year-old Japanese man presented with diabetes insipidus and hypopituitarism. Magnetic resonance imaging (MRI) revealed a mass lesion in the pituitary stalk, which was diagnosed as a pure germinoma by open craniotomy tumor biopsy. Seven years later, his 13-year-old son also presented with diabetes insipidus. MRI revealed mass lesions in the pituitary stalk and the pineal region. He underwent endoscopic tumor biopsy for the pineal lesion, which was diagnosed as a pure germinoma. Both the father and his son were treated with combined radiochemotherapeutic regimens and achieved complete remission after one to two cycles of chemotherapy., Conclusion: Although there have been three previous case reports of familial germinoma, all of these involved sibling pairs. The present report represents the first parent-child cases. This type of familial occurrence suggests the possibility that germline mutations may also be involved in the development of IGCTs.