An intrasellar germinoma with normal cerebrospinal fluid ?-HCG concentrations misdiagnosed as hypophysitis

Abstract

A patient with an intrasellar germinoma leading to pituitary stalk thickening is reported. The patient, a 24-year old woman, presented with hyperprolactinemia, secondary hypothyroidism, and hypogonadotropic hypogonadism with no evidence of diabetes insipidus. Cerebrospinal fluid (CSF) examination revealed an increased number of lymphocytes and histiocytes. Although beta-HCG concentration was normal (<2 mIU/mL) in the CSF, increased beta-HCG concentration was detected in the serum. Systemic glucocorticoid treatment led to a decrease in CSF cell count, but no regression of the sellar mass was noted. A diagnostic biopsy was performed and showed an intrasellar germinoma. The patient underwent conventional radiotherapy. Complete resolution of the mass lesion and normalization of beta-HCG concentration in the serum were observed three months after radiotherapy. The presence of intrasellar mass lesion in association with pituitary stalk thickening may cause difficulties in the differential diagnosis. Histopathological examination is essential in equivocal cases in order to reach accurate diagnosis and apply the most appropriate therapy.

An intrasellar germinoma with normal tumor marker concentrations mimicking primary lymphocytic hypophysitis

“…ntracranial germinomas (GE) are malignant neoplasms that most likely arise from primitive germ cells that failed to migrate to the genital crest during embryonic development (1). They represent about 3.4% of all primary intracranial tumors, predominantly affect pre-pubertal children, and are more often localized in the pineal gland or suprasellar region, although bifocal lesions have also been described (1,2).…”

“…They represent about 3.4% of all primary intracranial tumors, predominantly affect pre-pubertal children, and are more often localized in the pineal gland or suprasellar region, although bifocal lesions have also been described (1,2). Most commonly, they cause anterior (mainly GH deficiency) and particularly posterior pituitary hormone deficits with central diabetes insipidus (DI) (1).…”

“…In order to elucidate the etiopathogenesis in patients with difficult differential diagnosis, a transsphenoidal biopsy is indicated (1).…”

Sellar and suprasellar mixed germ cell tumor mimicking a pituitary adenoma

“…On follow up, patient presented several features inconsistent with a pituitary adenoma, such as concomitant central diabetes insipidus, high testosterone levels without exogenous steroid use and rapid tumor growth, being the latter the major clue for seeking an alternative diagnosis in this patient. Several cases have been reported of sellar GCT and the usual presenting symptoms are hypogonadism, central diabetes insipidus, visual field defects and hyperprolactinemia [17,24,27]. Of these findings, only central diabetes insipidus is inconsistent with pituitary adenoma, although not pathognomonic of GCT.…”

“…Several cases of primary intrasellar germinomas have been reported [5][6][7][8][9][10][11][12][13][14][15][16][17], but non-germinomatous GCT have rarely been described (Table 1) [18][19][20][21][22][23][24]. The main clinical manifestation in GCT arising in the sella turcica is central diabetes insipidus [2,3].…”