title: Epidemiology and clinical characteristics of endemic cretinism in Sicily.
abstract: In this study we report the prevalence of endemic cretinism in the general population of two iodine deficient areas in Northeastern Sicily that were described more than 10 yr ago. In addition, the individual characteristics of endemic cretins are considered in order to define the typical expressions of this major iodine deficiency disorder in Sicily. Forty-three mental defectives were identified: 22 were living in an area with three bordering and closely connected municipalities within the province of Messina and with a population of 17,485 inhabitants (prevalence = 0.13%). Three out of the 22 were school-age children. The other community, in the province of Catania, was constituted by a unique and mostly agricultural hamlet, and showed a prevalence of cretinism that was 0.68% (21/3,100). Among the 43 mental defectives, 16 (37%) presented prominent neuromotor and neurosensorial disorders, including deafmutism and were euthyroid, thus conforming to the neurological type of cretinism; 13 (30%) were hypothyroid and exhibited stunted growth without significant neuromotor and neurosensorial impairment (myxedematous cretins). In the remaining 14 individuals (33%) neurological disorders were associated with stunted growth and clinical or biochemical hypothyroidism. These data indicate that also in Sicily endemic cretinism is a continuum of a variety of forms: among these the pure neurological and pure myxedematous forms represent the two extremes. Our observations also indicate that endemic cretinism still represents a major public health problem in Sicily. The finding of 3 endemic cretins younger than 13 yr suggests the persistence of this disorder even in the presence of improved economic, social and nutritional conditions.
authors.affiliation: Istituto Pluridisciplinare di Clinica Medica, Università di Messina, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Trimarchi
authors.forename: F
authors.initials: F
authors.lastname: Vermiglio
authors.forename: M D
authors.initials: MD
authors.lastname: Finocchiaro
authors.forename: S
authors.initials: S
authors.lastname: Battiato
authors.forename: V P
authors.initials: VP
authors.lastname: Lo Presti
authors.forename: N
authors.initials: N
authors.lastname: La Torre
authors.forename: F
authors.initials: F
authors.lastname: Calaciura
authors.forename: C
authors.initials: C
authors.lastname: Regalbuto
authors.forename: L
authors.initials: L
authors.lastname: Sava
authors.forename: R
authors.initials: R
authors.lastname: Vigneri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003409:Congenital Hypothyroidism / Q000453:epidemiology* / Q000378:metabolism / Q000473:pathology; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000473:pathology; D008607:Intellectual Disability / Q000473:pathology; D007455:Iodine / Q000172:deficiency; D008297:Male; D008875:Middle Aged; D012802:Sicily / Q000453:epidemiology
chemical_list: D007455:Iodine