Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CRETINISM”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed1993

Clinical study of endemic cretinism in south Sikkim.

One hundred individuals suffering from Endemic Cretinism were studied. There were 55 males and 45 females. 62% of the cretins had visible goitre. Thirty nine (62.9%) goitrous cretins had grade II goitre. Neurological cretinism was the predominant type encountered (99%) and Myxoedematous cretinism was seen in only one patient. The most salient neurological feature was deaf-mutism seen in 74%. Findings in the motor system were, apart from deaf-mutism, the most characteristic feature of the condition on clinical examination. 58% had exaggerated deep tendon reflexes and 31% had extensor plantar response. Squint was noticed in 29%. Familial aggregation was noticed and was striking. Endemic cretinism is a distinctive and easily identifiable clinical entity and is an important indicator of the severity of iodine deficiency in a community.

Adolescent↗
PubMed1997

Epidemiological study of endemic cretinism in a hyperendemic area.

A cross sectional survey was carried out to detect prevalence of cretinism in two rural areas of Bangladesh (one hyperendemic and the other non-endemic area). The size of the study population was four thousand five hundred and nine, the age ranged from 2 to 45 years. The prevalence of cretinism was 0.6% in the hyperendemic area, while there were no case of cretinism in the non-endemic zone. Of the 27 cretins, 18 (67%) were of the neurological type and 9 (33%) of mixed type. Males were more likely to be affected than females (p < 0.05). Cretinism was more prevalent in the 2-9 years age group. The hyperendemic area was deficient of iodine in food and the cretins were underweight. These observations call for a need for coordinated public health actions to control this serious problem.

Adolescent↗
PubMed1989

Effects of protracted hypothyroidism on pituitary function and structure in endemic cretinism.

Pituitary function and structure were assessed in 69 endemic cretins from western China. In hypothyroid cretins (TSH greater than 10 mIU/l), CT imaging of the pituitary revealed adenoma in five of 20 (25%) and partially empty sella (PES) in a further eight of 20 (40%). The majority of tumours were microadenomas and showed a relation with higher levels of serum TSH but not with duration of hypothyroidism. Dynamic pituitary testing with TRH and GnRH in four patients with adenoma on CT gave a flat TSH response but significant rises in serum PRL, GH, LH and FSH concentrations. Hyperprolactinaemia (greater than 350 mIU/l) was present in hypothyroid cretins only (13 of 26; 50%) and serum PRL showed a curvilinear relation with serum TSH levels (r = 0.7, P less than 0.0001). Hypogonadism was seen in approximately half the cretins with high PRL levels. Our data suggest that severe protracted thyroid hormone deficiency may result in thyrotrophin adenomas of the pituitary gland. Disturbances of growth, puberty, and sexual function in endemic cretins are explained by the secondary effects of thyroid hormone deficiency on pituitary function.

Adenoma↗
PubMed1988

Thyroid function of subjects with goitre and cretinism in an endemic goitre area of rural China after use of iodized salt.

Endemic goitre and cretinism are still a public health problem in China. An epidemiological survey showed that about 5% of the inhabitants in Daxin village, Henan province, had goitre or cretinism after an iodized salt prevention programme had been carried out for two decades. The main food for the inhabitants of this area has an iodine content less than 30 nmol/kg and the water for cooking and drinking has an iodine concentration between 7-12 nmol/l. We studied thyroid function in subjects of this village. There were 42 with grade 0 goitre (males 29, females 13), 42 grade I (males 23, females 19), 27 grade II (males 9, females 18), 31 grade III (males 14, females 17) and 34 cretinism patients (males 30, females 4) diagnosed and classified according to WHO criteria. Serum T4, free T4, T3, free T3, T3 uptake, TSH and thyroglobulin were measured in these subjects. The patients with goitre or cretinism had significantly decreased serum free T4 and increased serum T3 and free T3 levels compared with those of controls. Thyroid size was positively correlated with age and serum thyroglobulin concentrations. Serum thyroglobulin was significantly increased even in the grade 0 goitre subjects. The percentages of subjects with serum free T4 less than 12 nmol/l, T3 greater than 2.5 nmol/l, free T3 greater than 5.2 pmol/l, TSH greater than 3.5 mU/l, T3/T4 ratio greater than 0.03 and free T3/free T4 ratio greater than 0.36 were significantly higher among goitre and cretinism patients than among controls. The data suggest that there is partial compensation for a marginal deficiency of iodine in the inhabitants of this village.

China↗
PubMedDate not supplied

["Goiters and the associated idiocy in several countries. Attempts of Vincenzo Malacarne from Saluzzo". Current interpretation of endemic cretinism].

Two hundred years ago V. Malacarne pathologist and surgeon, born in Saluzzo, a town on the foot of the Cottian Alps, published a booklet about goiter and endemic cretinism being diseases prevalent at that time in the countryside. In 1940-45 goiter epidemics spread through these still endemic regions. On the basis of his own observations on autoptic specimens he suggested that the main cause of cretinism was brain damage due to impeded blood circulation by the neck swelling, and invited the pathologists of the Po and Aosta Valleys to send him "il capo ed il collo (the head and the neck)" of these goitrous idiots for a control. Also today we believe the thyroid and the brain to contain crucial factors of cretinism, both sporadic and endemic, and we assume that iodine deficiency is the causal link between the two diseases. Yet we do not know either the factors which damage and prevent, in the myxedematous cretin, postnatal thyroid growth, or the aetiopathogenesis of the deaf-mutism, spastic paraplegia and severe mental deficiency of the neurological non hypothyroid cretin. While these questions remain unanswered, ample evidence has matured during the last two centuries regarding the practical importance of iodine prophylaxis to prevent these scourges, today referred to as "iodine deficiency disorders". Some recent findings on diencephalon inflammation in human and canine goitre are quoted.

Animals↗
PubMed1983

Craniofacial malformation among endemic cretins in Ecuador.

Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema.

Adolescent↗
PubMed1989

Endemic cretinism: possible role for thyroid autoimmunity.

Thyroid atrophy, rather than goitre, is a characteristic feature of myxoedematous cretinism but its cause and nature are unknown. In this study, purified IgG fractions of serum from patients with myxoedematous endemic cretinism inhibited thyrotropin-induced DNA synthesis in guineapig thyroid segments in a sensitive cytochemical bioassay. IgG from patients with euthyroid neurological endemic cretinism or from normal subjects did not inhibit thyroid growth. Furthermore, in myxoedematous subjects, the presence of the thyroid-growth-blocking immunoglobulins showed a positive relation with thyroid atrophy found on ultrasound. These findings provide a pathogenic basis for the variable clinical expression of endemic cretinism.

Adolescent↗
PubMed1990

Supplementary iodine fails to reverse hypothyroidism in adolescents and adults with endemic cretinism.

The efficacy of supplemental iodine in correcting hypothyroidism in adults and older children with endemic myxedematous cretinism is not known. To investigate this issue we administered im iodized oil (1.5 mL) to 28 hypothyroid endemic cretins (TSH, greater than 5 mIU/L) from western China, aged 14-52 yr (mean = 29 SD = 11 yr). Clinical examination, intelligence testing (Hiskey Nebraska Test of Learning Aptitude and the Griffiths Mental Development Scales), and thyroid function tests were performed before and 6 months after iodine supplementation. We found that signs of thyroid hormone deficiency, dwarfism, and delayed sexual maturity persisted after iodine supplementation. Further, mental disability and other clinical features of neurological damage were not altered by treatment. The mean serum concentration of total T4 before treatment was 75 nmol/L (SD = 40) and fell after iodized oil administration to 56 nmol/L (SD = 29; P less than 0.001). Mean serum levels of TSH before and after iodine showed a paradoxical fall [85 mIU/L (SD = 102) and 46 mIU/L (SD = 46), respectively]. Serum TSH levels decreased into the normal range (less than 5 mIU/L) in only 1 of 28 patients (4%). We conclude that iodine supplementation does not reverse thyroid hormone deficiency or its sequelae in adolescents and adults with endemic myxedematous cretinism. Iodized oil in this age group of patients with endemic cretinism does not appear to be beneficial and should be used with caution.

Adolescent↗
PubMed1975

Experimental cretinism in lambs: an intrauterine model with thyroid evaluation in surviving lambs.

The experiments in this article were designed to establish an animal model analogous to human athyrotic cretinism without altering maternal thyroid status and subsequently to observe the natural course of the disorder. The effect of ovine intrauterine fetal thyroidectomy during the second trimester was assessed by following maternal thyroid function and amniotic fluid T4 by column [T4(C)], T3 by radioimmunoassay (T3RIA), and ovine TSH (oTSH). Maternal serum T4(C) rose during pregnancy but unexpectedly both T3RIA and oTSH decreased. In amniotic fluid, T4(C) and oTSH values were lower than maternal serum values and T3RIA was not detectable. Amniotic fluid T4(C) at Cesarean section was identical in cretin lambs and twin controls and was thus not a useful diagnostic tool. Athyrotic lambs showed gross physical, behavioral, and pathologic changes of cretinism and expired during the first day of life. At birth, cretin serum T4(C) and T3RIA were markedly decreased and oTSH was elevated. Normal lambs had a gradual decline in T4(C) levels until 10 weeks of age, but T3RIA values changed erratically. In addition, one cryptocretin with a thyroid remnant had a high normal T4(C) and elevated T3RIA and oTSH at birth. Her course was normal until 7 months of age when hypothyroidism suddenly developed. These observations could prove relevant in the interpretation of thyroid function of normal versus partially or completely athyrotic human infants.

Amniotic Fluid↗
PubMed1993

[Stereological studies on the brain development of fetuses in cretinism endemic region after supplement of iodized salt for 10 years].

Epidemiologic reports indicated that in the cretinism endemic regions the incidence of cretinism decreased obviously after supplement of iodized salt but there still existed many cretinoid cases accompanied with mild impairment of intelligence and retardation of somatic development. This suggests that some factors other than iodine deficiency might also play an important role in the pathogenesis of cretinism. 21 brains of therapeutically aborted fetuses from cretinism endemic region after a supplement of iodized salt for ten years were studied under both light and electron microscopes. Serum T3, T4 and TSH of the fetuses and their mothers were coincidentally assayed. The brain development of fetuses from the endemic region was noticed to be still retarded as compared with those from the non-endemic region, despite that the serum hormones of the fetuses and their mothers in the endemic region showed no more significant difference from those in the non-endemic region. The retardation of the brain development could be evidenced by the increase of cellular density, decrease of the average volume of neurocytes, increase of the volume ratio between nucleus and cytoplasma per neuron, as well as decrease in number and average surface area of the mitochondria, and all of these were obtained in the cerebral cortex, hippocampus and the layer of Purkinje's cells of the cerebellum.

Brain↗
PubMed1993

Magnetic resonance imaging of brain and the neuromotor disorder in endemic cretinism.

Neurological endemic cretinism, resulting from severe iodine deficiency, is characterized by mental deficiency, deafmutism, and a spastic-rigid motor disorder. Its neuropathology and pathophysiology have been investigated very little. We report the clinical and magnetic resonance imaging brain scan findings of 3 adult Chinese cretins. All show an apparent magnetic resonance imaging abnormality in the globus pallidus and substantia nigra, with hyperintensity on T1-weighted images and hypointensity on T2-weighted images. The motor abnormality, characterized by truncal and proximal limb-girdle rigidity and spasticity, with relative sparing of the hands and feet, is analogous to other extrapyramidal disorders. Endemic cretinism is a unique form of cerebral palsy of potential interest for students of human neuromotor development.

Adult↗
PubMed1986

Reversibility of severe hypothyroidism with supplementary iodine in patients with endemic cretinism.

The reversibility of thyroid dysfunction in children with endemic cretinism treated with supplemental iodine is unknown. To study this question we conducted a five-month follow-up of 51 patients with cretinism (age 14 and below), who were randomly assigned to treatment (0.5 ml of intramuscular iodized oil) and control groups. The geometric mean initial serum level of thyrotropin (223 microU per milliliter; SD, 97 to 513) and the mean (+/- SD) initial serum level of thyroxine (1.0 +/- 1.2 micrograms per deciliter) indicated that all patients had severe hypothyroidism. Within one month after receiving the iodized oil, 13 of 14 of the younger patients (less than 4 years) and 1 of 9 of the older patients (4 to 14 years; P less than 0.001) had thyrotropin values below 20 microU per milliliter. Five months after treatment, the levels of thyrotropin had decreased and those of thyroxine had increased in all children, but greater changes occurred in the 13 younger patients than in the 14 older patients. The mean levels of thyrotropin were 2 microU per milliliter (SD, 0.6 to 6) vs. 38 microU per milliliter (SD, 11 to 132; P less than 0.001), and the mean (+/- SD) levels of thyroxine were 13.1 +/- 2.8 vs. 8.1 +/- 4.6 micrograms per deciliter (P less than 0.001). In the untreated group, 3 of the 9 younger patients and none of the 15 older patients recovered normal thyroid function within five months. We conclude that iodine supplementation restored a biochemically euthyroid state in all younger children with cretinism but only some of the older children. In addition, some younger patients became euthyroid without iodine supplementation.

Adolescent↗
PubMed1990

Iodine and selenium deficiency associated with cretinism in northern Zaire.

Selenium status was determined in an endemic-goiter area and in a control area of Zaire. Compared with the reference values of a noniodine-deficient area, serum selenium in subjects living in the core of the northern Zaire endemic-goiter belt (Karawa villages) was seven times lower in 52 school-children and similarly low in 23 cretins; erythrocyte glutathione peroxidase (RBC-GPX) was five times lower in schoolchildren and still two times lower in cretins (P = 0.004). In a less severely iodine-deficient city of the same endemia (Businga), selenium status was moderately altered. RBC-GPX activity was linearly associated with serum selenium concentration up to a value of 1140 nmol/L and leveled off at approximately 15 U/g Hb at greater selenium concentration. At Karawa villages, selenium supplementation normalized both the serum selenium and the RBC-GPX. This combined iodine and selenium deficiency could be associated with the elevated frequency of endemic myxedematous cretinism in Central Africa.

Adolescent↗
PubMed1978

Effects of iodides on the hypothalamic-pituitary-thyroid axis in neurological endemic cretinism: evidence for compensated thyroidal failure in adult life.

Thyroid function studies, performed after iodide administration to five patients with neurological endemic cretinism, were indicative of hypothyroidism. All five subjects had either a low serum thyroxine (T4) or a high basal thyrotrophin (TSH) level and a clearly exaggerated TSH response to thyrotrophin releasing hormone (TRH). These findings are in sharp contrast with those we have previously described in goitrous patients without cretinism from the same geographical area. One interpretation of our observations is that there is an underlying mild defect in thyroid hormone synthesis in endemic cretinism predisposing to iodine induced hypothyroidism.

Adult↗
PubMed1970

Cretinism in rats: enduring behavioral deficit induced by tricyanoaminopropene.

Rats reared on diets containing tricyanoaminopropene, the antithyroid compound that stimulates RNA synthesis, showed a deficit in performance on automated closed-field maze tests many weeks after discontinuation of the drug. The rats were also tested while still receiving the drug, and performance deficits were indicated in tests of Y-maze reversal and manual closed-field maze performance; rats treated with the drug and with thiouracil behaved in a highly similar fashion on several tasks. No evidence of facilitation by tricyanoaminopropene appeared in any of the eight learning situations used. Exposure to tricyanoaminopropene before and after birth, at doses sufficient to produce anatomical cretinism, apparently induces an enduring behavioral deficit which is similar to that of neonatal thyroidectomy-induced cretinism in rats and which parallels the mental retardation associated with human cretinism.

Amines↗
PubMed1980

Pituitary cretinism in two sisters.

Two sisters with cretinism are reported. Each showed low levels of serum triiodothyronine, thyroxine, and thyroid-stimulating hormone (TSH). In the elder sister, serum TSH did not increase after administration of thyrotropin-releasing hormone. We conclude that cretinism in these 2 sisters was due to TSH deficiency. This is the second report of 'familial' pituitary cretinism (TSH-deficient congenital hypothyroidism).

Congenital Hypothyroidism↗
PubMed1990

Central cretinism in four successive siblings.

A study of four successive siblings, age 9, 12, 14 and 16 years with cretinism associated with congenitial central hypothyroidism (central cretinism), born to a mother in the endemic goitre region of the Jos Plateau, Nigeria, is presented. Biochemically, the defects were characterized by abnormally low basal thyroxine, triiodothyronine and thyroid stimulating hormone, as well as refractory TSH response to thyrotrophin releasing hormone and gross hyperlipidaemia. Clinically, the intellectual, physical and neurological impairment varied from moderate in the youngest to very severe in the oldest. Contrasting clinical pictures of cretinism, which appeared related to age and previous treatment were found with a spectrum ranging from predominantly myxoedematous in the youngest to predominantly neurological in the 16 year old male. Response to adequate treatment was dramatic, with restoration of severe gait disturbance occurring almost completely, but the imprints of thyroid hormone deficiency on mental defects and intellectual performance remained almost unaltered. The parents and two older sisters were normal with normal thyroid function.

Adolescent↗
PubMed1987

Effect of thyroid hormone therapy on plasma insulin-like growth factor I levels in normal subjects, hypothyroid patients and endemic cretins.

The effect of thyroid hormone therapy (L-T4 or L-T3) on plasma immunoreactive insulin-like growth factor I (somatomedin C, Sm-C) concentrations was studied in 8 normal controls, 14 primary hypothyroid subjects and in 7 patients with endemic cretinism. In normals basal levels of Sm-C (1.56 +/- 0.77 U/ml) increased to (2.46 +/- 1.0 U/ml; L-T4) and to (2.9 +/- 0.95 U/ml; L-T3). Plasma Sm-C basal levels were significantly lower in primary hypothyroid subjects (0.81 +/- 0.48 U/ml) and increased to 2.54 +/- 1.43 U/ml (L-T4) and to 2.16 +/- 0.83 U/ml (L-T3). A significant and positive correlation (r = 0.56) was found between Sm-C and serum T4 and T3 concentrations. Plasma Sm-C concentrations in endemic cretinism were initially normal in 4 patients, but low in the remaining 3 (mean +/- SD: 1.18 +/- 0.63 U/ml) and did not increase after 12 months (1.34 +/- 0.61 U/ml) or 18 months (1.01 +/- 0.43 U/ml) of L-T4 and L-T3 therapy. Plasma T4 levels and free T4 increased considerably in EC after therapy with a significant decrease in the previously elevated plasma TSH concentrations. The subnormal response of plasma Sm-C during effective thyroid thyroid hormone therapy could be an additional factor involved in growth failure of endemic cretins.

Adolescent↗