[Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge].
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.
División Endocrinología, Hospital de Clínicas, Universidad de Buenos Aires (UBA), Argentina.
Yamile
Y
Mocarbel
División Endocrinología, Hospital de Clínicas, Universidad de Buenos Aires (UBA), Argentina.
Graciela
G
Arébalo de Cross
Servicio de Pediatría, Centro Hospitalario Universitario (CHU), Lieja, Bélgica.
Marie C
MC
Lebrethon
Servicio de Patología, Centro Hospitalario Universitario (CHU), Lieja, Bélgica.
Albert
A
Thiry
Servicio de Endocrinología, Centro Hospitalario Universitario (CHU), Lieja, Bélgica.
Albert
A
Beckersd
Servicio de Endocrinología, Centro Hospitalario Universitario (CHU), Lieja, Bélgica. hg.valdessocin@chu.ulg.ac.be.
Hernan
H
Valdes-Socin
D000293:Adolescent; D003397:Craniopharyngioma / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D010911:Pituitary Neoplasms / Q000150:complications / Q000175:diagnosis*; D011627:Puberty
Klinefelter syndrome; craniopharyngioma; hypogonadism; pituitary neoplasms; puberty