Zilbermint Mihail, Ramnitz Mary S, Lodish Maya B, Kanaka-Gantenbein Christina, Kattamis Antonis, Lyssikatos Charalampos, Patronas Nicholas J, Quezado Martha M, Stratakis Constantine A
J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):359-62. doi: 10.1515/jpem-2013-0274.
Germinomas presenting with a pituitary stalk lesion and panhypopituitarism are rare in children, and their definite diagnosis is challenging. An invasive diagnostic approach, such as a transsphenoidal biopsy, is often required prior to establishing a treatment regimen. A 13-year-old female presented with 1 year of secondary amenorrhea, fatigue, and progressive thirst with polyuria. Laboratory work-up revealed panhypopituitarism (central hypothyroidism, hypogonadotropic hypogonadism, adrenal insufficiency and central diabetes insipidus). α-Fetoprotein and β-human chorionic gonadotropin were not elevated in serum nor in cerebrospinal fluid. The magnetic resonance imaging (MRI) of the pituitary region showed an enhancing infundibular lesion, extending into the hypothalamus, and infiltrating the pituitary gland. A transsphenoidal biopsy of the infundibular lesion confirmed the diagnosis of germinoma (germ-cell tumor). After appropriate hormone replacement therapy, chemotherapy and low-dose radiation therapy, the patient achieved complete resolution of the pituitary stalk lesion on the MRI.
以垂体柄病变和全垂体功能减退为表现的生殖细胞瘤在儿童中罕见,其明确诊断具有挑战性。在制定治疗方案之前,通常需要采取侵入性诊断方法,如经蝶窦活检。一名13岁女性出现1年继发性闭经、疲劳以及进行性口渴伴多尿。实验室检查显示全垂体功能减退(中枢性甲状腺功能减退、低促性腺激素性性腺功能减退、肾上腺功能不全和中枢性尿崩症)。血清和脑脊液中的甲胎蛋白及β - 人绒毛膜促性腺激素均未升高。垂体区域的磁共振成像(MRI)显示漏斗部病变强化,延伸至下丘脑,并浸润垂体。漏斗部病变的经蝶窦活检确诊为生殖细胞瘤(生殖细胞肿瘤)。经过适当的激素替代治疗、化疗和低剂量放射治疗后,患者MRI上的垂体柄病变完全消退。