PMID: 11926207Apr 3, 2002Paper

CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty

Journal of Pediatric Endocrinology & Metabolism : JPEM
Anurag BajpaiP S N Menon

Abstract

A 6 year-old boy presented with peripheral precocious puberty and was diagnosed as having simple virilizing 21-hydroxylase deficiency based on clinical features and elevated 17-hydroxyprogesterone levels on ACTH stimulation. He was managed with glucocorticoids and mineralocorticoids. Two years later he presented with features of CNS involvement in the form of seizures and raised intracranial pressure with rapid progression of puberty. Contrast enhanced CT scan of brain showed an intraventricular tumor with cerebrospinal fluid cytology suggestive of germinoma. Serum and CSF levels of human chorionic gonadotropin (hCG) and alphafetoprotein (AFP) were elevated, confirming the diagnosis of germinoma.

References

Nov 1, 1991·American Journal of Diseases of Children·A T EnglundG D Braunstein
Jun 1, 1987·Australian Paediatric Journal·P T Cheung, L C Low
Sep 1, 1981·The Journal of Clinical Endocrinology and Metabolism·C A SklarM M Grumbach
Sep 1, 1981·The Journal of Pediatrics·S C Duck

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