Search

This work reports the presence of endemic cretinism in a small district located inside an endemic goiter area in north-eastern Sicily, personally described. The study covers 19 mental defectives (11 females and 8 males, mean age 35.8 ± 15.5 yr) selected on the basis of severe mental retardation recognized by the local doctors. No systematic survey for cretinism was carried out in the total population. Marked mental retardation was evident in all subjects. Nine of them exhibited clinical and biochemical signs of hypothyroidism (myxedematous cretins). The 10 others were clinically euthyroid and had deaf-mutism and/or pyramidal tract dysfunction (neurological cretinism). Familial aggregation of cretinism was also observed. In both myxedematous and neurological cretins the urinary iodine excretion was very low, but not significantly different from that recorded in the euthyroid controls of the same area. The data available do not clarify the pathogenesis of endemic cretinism in Sicily. However, the marked height retardation, the observation of delayed bone maturation and the severity of mental deficiency suggest that thyroid failure was present in early life. The presence of endemic cretinism today in Sicily constitutes a strong argument in favour of the immediate introduction of adequate iodine prophylaxis.

The paper describes the epidemiology of goiter in two endemic areas of the highlands of north-eastern Sicily and evaluates the respective roles of iodine deficiency and high thiocyanate (SCN) supply in the etiology of the disease. One endemic area comprises Troina and Bronte and the other San Angelo. Control investigations were conducted in three non goitrous urban districts (Catania and Messina in Sicily and Brussels in Belgium). The prevalence of goiter determined in 4427 schoolchildren was 55.0% in Troina, 42.0% in Bronte and 48.7% in San Angelo. In Brussels, 24 h 131I thyroidal uptake was 49.4±2.3% (SE), and daily urinary excretion of iodine (I) and SCN were 51.2±5.8 μg/day and 6.7±1.3 mg/day, respectively. In the endemic area of San Angelo, predictably, high uptake (70.1±2.5%, p<0.001) was associated with abnormally low iodine excretion (26.3±1.7 μg/day, p< 0.001). SCN excretion was normal (7.7±0.3 mg/day, p> 0.2). By contrast, in Troina and Bronte, uptake was similar to the value obtained in Brussels (50.8±2.4%, p> 0.5), iodine excretion was slightly but not significantly lower (40.7±2.6 μg/day and 43.2±4.9 μg/day, respectively, p> 0.2) but SCN excretion was substantially increased (11.0±0.7 mg/day, p< 0.02 and 15.2±1.5 mg/day, p< 0.005, respectively). The daily urinary l/SCN ratios were similar in the three non goitrous districts (7.8, 8.7 and 9.1 for Brussels, Catania and Messina, respectively). The corresponding values were much lower in the goitrous areas (3.7, 2.8 and 3.4 for Troina, Bronte and San Angelo, respectively). The serum levels of thyroxine, triiodothyronine and thyrotropin were within the normal range in both endemic areas. These observations show that severe endemic goiter in Sicily may be related either to iodine deficiency or to increased SCN levels associated with a borderline iodine intake: the balance between I and SCN supplies thus appears to be the determining factor in the etiology of the disease in the regions considered. SCN has well established antithyroid properties. Its origin could be cabbage, which is a staple food in this region.

The reproductive hormone function was investigated in three subjects, two brothers and one unrelated patient, with a Robertsonian translocation, who had come to us because of infertility. Basal levels of LH, FSH, testosterone, 17-beta-estradiol and prolactin were repeatedly measured by radioimmunoassays. In addition, clomiphene citrate, synthetic LH-RH, hCG and TRH tests were carried out. Karyiotypes complemented by G-banding and C-banding, repeated semen analyses, and testicular biopsies were also obtained. The karyotype of all three subjects was 45, XY -13, -14, +1 (13; 14) (p11; q11 ). Semen analyses showed oligozoospermia, and reduced or reduced/normal sperm motility. I n addition, a high percentage of atypical forms was present in all three subjects. Reproductive hormone measurements in our three patients were substantially normal. Only one of the two brothers exhibited slightly low LH and testosterone levels. Both brothers also had elevated estradiol levels. Gonadotropin and testosterone responses to respective provocative stimuli, as well as prolactin elevation following TRH, were normal. In conclusion, the semen abnormalities observed in these three subjects with Robertsonian translocation appear to be responsible for their impaired fertility. However, the reason why some carriers of the same translocation are fertile and some others ’are subfertile or infertile remains unclear. It might be speculated that an individual genetic variability is responsible for different degrees of spermato-genic failure, accompanied, in more severe cases, also by reproductive hormone disorders.