Mocarbel Yamile, Arébalo de Cross Graciela, Lebrethon Marie C, Thiry Albert, Beckersd Albert, Valdes-Socin Hernan
División Endocrinología, Hospital de Clínicas, Universidad de Buenos Aires (UBA), Argentina.
Servicio de Pediatría, Centro Hospitalario Universitario (CHU), Lieja, Bélgica.
Arch Argent Pediatr. 2017 Apr 1;115(2):e104-e107. doi: 10.5546/aap.2017.e104.
Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/109) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment. At the age of 14, he started pubertal induction with gonadotropin therapy without clinical response. Asociación de craneofaringioma y síndrome de Klinefelter en la transición puberal: un desafío diagnóstico Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge A genetic evaluation confirmed a homogeneous 47, XXY karyotype. Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.
颅咽管瘤是儿童期最常见的垂体肿瘤。由于其进展或治疗，它可能会影响青春期发育。克兰费尔特综合征是男性高促性腺激素性性腺功能减退的最常见原因。这两种疾病同时出现的情况极为罕见（1/109），其病理生理关联也受到质疑。我们报告一例18岁的比利时患者。他童年时被诊断为颅咽管瘤，放疗和手术治疗后出现全垂体功能减退。14岁时，他开始用促性腺激素进行青春期诱导，但无临床反应。青春期过渡阶段的颅咽管瘤与克兰费尔特综合征：一项诊断挑战 青春期过渡阶段的颅咽管瘤和克兰费尔特综合征：一项诊断挑战 基因评估证实为均一的47, XXY核型。外源性促性腺激素治疗失败揭示了原发性和继发性性腺功能减退的隐匿关联，表明对这些患者进行随访和多学科治疗方法的重要性。
