Abstract

MOCARBEL, Yamile et al. Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge. Arch. argent. pediatr. [online]. 2017, vol.115, n.2, pp.e17-e20. ISSN 0325-0075.  http://dx.doi.org/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. 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.

Keywords : Klinefelter syndrome; Craniopharyngioma; Pituitary neoplasms; Hypogonadism; Puberty.

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