Precocious puberty with hypothalamic hamartoma and non classical form of congenital adrenal hyperplasia. Report of two cases.
Two girls with central precocious puberty (CPP) associated with hypothalamic hamartoma (HH) and non classical form of congenital adrenal hyperplasia (NCAH), are reported. Case 1. The first patient, who showed at age around 4 years the onset of CPP, was submitted in view of some organic lesion to magnetic resonance (MRI) of the brain which documented the presence of HH. The remarkable acceleration of bone age (BA) advanced of 3 SD and some clinical signs of hyperandrogenism suggested the coexistence of NCAH, proved by adrenocorticotropic hormone (ACTH) test and molecular analysis. She resulted carrier of partial 21-hydroxylase deficiency. Case 2. In the second girl with CPP, aged 6.5 years, the remarkable advancement (4 SD) of bone age (BA) alerted to adrenal involvement. ACTH stimulation test and molecular analysis showed NACH due to 21-hydroxylase deficiency. Brain MRI, performed mainly for severe headache, showed the presence of HH. Yearly brain MRI to monitor HH dimensions and neurological examination with EEG, in order to exclude anomalies referable to gelastic epilepsy are advisable, in both cases. The authors' observation emphasizes the need to be careful in young patients with CPP, with fast progression of pubertal development and remarkable BA advancement. The association of CPP with HH and NCAH should be considered, performing not only MRI of the brain, but also ACTH test, beside LHRH test for the diagnosis of CPP. At the authors' knowledge this association has not been reported so far. Further observations are needed to understand if this rare combination is occasional or genetically determined.
Pediatric Department, La Sapienza University, Rome, Italy. annamaria.pasquino@virgilio.it
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Pasquino
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Pucarelli
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Cambiaso
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Cappa
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D000324:Adrenocorticotropic Hormone; D002648:Child; D002675:Child, Preschool; D005260:Female; D006222:Hamartoma / Q000150:complications*; D006801:Humans; D007027:Hypothalamic Diseases / Q000150:complications*; D008279:Magnetic Resonance Imaging; D006899:Mixed Function Oxygenases / Q000172:deficiency; D011629:Puberty, Precocious / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology
D000324:Adrenocorticotropic Hormone; D006899:Mixed Function Oxygenases