title: [Congenital adrenal hypoplasia and hearing loss. A case report].
abstract: We report on the diagnostics, the therapeutics and the follow-up (to 3 years and 5 months) of a newborn affected by X-linked congenital adrenal hypoplasia. After the beginning of substitute hormonal therapy, the patient underwent periodical clinical examinations, with particular attention to the growth, and laboratory tests, which monitored the hormonal pattern. This experience points out the diagnostic role of low maternal levels of urinary estriol during pregnancy and the importance of a prolonged follow-up, so as to discover associated pathologies as early as possible. In our case, in fact, the study of auditory brainstem responses enabled us to recognize a mild transmission hearing loss at the early age of 8 months.
authors.affiliation: Istituto di Pediatria, Università degli Studi, Palermo.
authors.forename: A
authors.initials: A
authors.lastname: Liotta
authors.forename: C
authors.initials: C
authors.lastname: Maggio
authors.forename: L
authors.initials: L
authors.lastname: Casimiro
authors.forename: M
authors.initials: M
authors.lastname: Giuffrè
authors.forename: S
authors.initials: S
authors.lastname: La Grutta
mesh_terms: D000307:Adrenal Gland Diseases / Q000150:complications / Q000151:congenital* / Q000188:drug therapy; D003348:Cortisone / Q000031:analogs & derivatives / Q000627:therapeutic use; D005500:Follow-Up Studies; D006314:Hearing Loss, Conductive / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008901:Mineralocorticoids / Q000627:therapeutic use; D010375:Pedigree; D013997:Time Factors
chemical_list: D008901:Mineralocorticoids; C033001:9-fluorocortisone; D003348:Cortisone
vernacular_title: Ipoplasia surrenalica congenita e deficit uditivo.