title: CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
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.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
authors.forename: Anurag
authors.initials: A
authors.lastname: Bajpai
authors.forename: Tanu
authors.initials: T
authors.lastname: Singhal
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: P S N
authors.initials: PS
authors.lastname: Menon
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D001932:Brain Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D017809:Fatal Outcome; D018237:Germinoma / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008901:Mineralocorticoids / Q000627:therapeutic use; D011629:Puberty, Precocious / Q000150:complications* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: D005938:Glucocorticoids; D008901:Mineralocorticoids; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone