[A syndrome of sporadic cretinism with other congenital anomalies (so-called nervous cretinism, McCarrison syndrome)].
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Abnormalities, Multiple↗
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[Comparison between thyroid function in endemic goiter, cretinism, deaf-mutism and the same functions in sporadic goiter, cretinism and deaf-mutism].
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Congenital Hypothyroidism↗
Endemic goiter and cretinism in Guizhou. Clinical analysis of 247 cretins.
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Adolescent↗
[A comparative study of EEG in patients with neurological and myxedematous cretinism].
A comparative study of EEG between neurological and myxedematous cretins was carried out in a total of 61 cases. The results were as follows: (1) The changes of EEG in myxedematous cretins appeared to be more obvious than those in neurological cretins; (2) The degree of mental retardation in cretins was not parallel to the degree of the abnormality of EEG; (3) with thyroid therapy, EEG in cretins was improved. The improvement rate in myxedematous cretins was higher than that in neurological cretins; (4) Brain CT scan was carried out in 50 cases of those cretins. It was found that the abnormality of certain intracerebral structure in myxedematous cretins appeared to be more obvious than that in neurological cretins. The change of EEG appeared in the same way as well. This is in contradiction to the traditional knowledge that the defect of neurological system in neurological cretinism was more severe than that in myxedematous cretinism. The current classification of cretins into neurological and myxedematous cretins does not reflect the changes of pathophysiology properly.
Adolescent↗
Endemic cretinism in Thailand: a multidisciplinary survey.
Endemic cretinism has been classified into neurological and myxedematous types. Profound mental deficiency, deaf-mutism and cerebral diplegia are predominantly found in the former. The latter have been described as less mentally retarded but with severe growth retardation and myxedematous features. The pathogenesis of different clinical types of endemic cretinism is still unclear. Recently, a unifying hypothesis suggested that iodine deficiency, severe enough to cause maternal and fetal hypothyroxinemia, results in neurological defects in all cretins. We conducted the present study in northern Thailand to determine the validity of this hypothesis in another geographical area. The study consisted of a multidisciplinary survey on 112 endemic cretins aged 2-66 years in Nan. They were categorized clinically into three types of endemic cretins, neurological (n = 57), myxedematous (n = 19) and mixed form (n = 36). The subjects were generally short and the majority had severe mental retardation (mean intellectual quotient (I.Q.) 30.8 +/- 8.8), psychomotor defect and profound sensorineural hearing loss. The I.Q. score and proportion of cretins with sensorineural hearing loss and psychomotor defect were similar among the three types of cretins. The most frequent neurological abnormalities were spasticity, hyper-reflexia, the presence of primitive reflexes and gait disturbance. These abnormalities were distributed equally among the three types of endemic cretins. Delayed skeletal maturation and abnormal epiphysis were also present in all types of cretins. However, myxedematous cretins were shorter (P < 0.01), having more myxedematous features (P < 0.05 to P < 0.001) and less sexual maturation (P < 0.05). Thyroid volume was lower in cretins with hypothyroidism (P < 0.01). In conclusion, our findings support the hypothesis that neurological features are present in all types of cretins, and are the consequence of maternal and fetal hypothyroxinemia due to severe iodine deficiency. The clinical manifestations of the cretins were subsequently modified by the length and severity of postnatal iodine deficiency and hypothyroidism.
Adolescent↗
Humoral thyroid autoimmunity is not involved in the pathogenesis of myxedematous endemic cretinism.
A role of thyroid autoimmunity in the pathogenesis of myxedematous endemic cretinism was suggested by reports indicating the presence of thyroid growth-blocking antibodies in the sera of these patients. To check this hypothesis, we searched for TSH receptor antibodies with thyroid growth-blocking or adenylate cyclase (AC)-inhibiting (TSH-blocking) activity in immunoglobulin G (IgG) from 18 euthyroid and 21 hypothyroid endemic cretins living in Italy and Peru. Among hypothyroid cretins, 12 had no palpable goiter. Stages I-III goiters were present in 12 of 18 euthyroid cretins. Controls included 25 euthyroid nongoitrous subjects living in the same endemic regions as cretins, and 10 normal subjects from an iodine-sufficient area. IgG from 4 selected patients with autoimmune atrophic thyroiditis and from 2 neonates with sporadic transient congenital hypothyroidism due to maternal TSH-blocking antibodies were included in the study. The blocking effect of the IgG was assessed in FRTL-5 cells by measuring TSH-stimulated [3H]thymidine incorporation, DNA accumulation, and AC activation. A radioreceptor assay was used to detect TSH-binding inhibiting antibodies (TBIAb). No IgG from hypothyroid endemic cretins without goiter contained TBIAb or inhibited TSH-stimulated cell growth or AC activation. The effect of IgG from hypothyroid nongoitrous cretins did not differ from that produced by IgG from hypothyroid cretins with goiter, euthyroid cretins with or without goiter, or normal controls. In contrast to these results, IgG from patients with autoimmune atrophic thyroiditis and from neonates with sporadic transient congenital hypothyroidism contained TBIAb that inhibited both TSH-stimulated cell growth and AC activation. In conclusion, our results indicate that, similar to other types of endemic cretinism, hypothyroid endemic cretins without goiter do not have TSH receptor antibodies able to inhibit TSH-stimulated thyroid cell growth or function. These observations argue against a role of humoral thyroid autoimmunity in the development of myxedematous endemic cretinism.
Adolescent↗
The neurology of endemic cretinism. A study of two endemias.
Endemic cretinism is the most severe manifestation of dietary iodine deficiency. Two forms of the syndrome are traditionally described: neurological and myxoedematous. Although this classification highlights the important neurological sequelae of the disorder it implies that myxoedematous cretins have an alternative mechanism. Further, the nature of the neurological deficit associated with both types of endemic cretinism has received scant attention in recent times considering that it remains a common disorder in many parts of the world. The nature and extent of the neurological deficit found in endemic cretinism was investigated in 104 cretins from a predominantly myxoedematous endemia in western China and in 35 cretins from central Java, Indonesia, a predominantly neurological endemia. We found a similar pattern of neurological involvement in nearly all cretins from both endemias, regardless of type (myxoedematous or neurological), and of current thyroid function. Hallmarks of the neurological features included mental retardation, pyramidal signs in a proximal distribution and extrapyramidal signs. Many patients exhibited a characteristic gait. This probably reflected pyramidal and extrapyramidal dysfunction, although joint laxity and deformity were important contributing factors. Other frequently encountered clinical features were squint, deafness, and primitive reflexes. Cerebral computerized tomography (CT) revealed basal ganglia calcification in 15 of 50 subjects. The presence of basal ganglia calcification was confined to cretins with severe hypothyroidism. Otherwise, cerebral CT scanning demonstrated only minor abnormalities which did not contribute to the localization of the clinical deficits. We conclude that the same neurological disorder is present in both types of endemic cretinism reflecting a diffuse insult to the developing fetal nervous system. These clinical findings support the concept of maternal and fetal hypothyroxinaemia, arising from severe iodine deficiency, as the primary pathophysiological event in endemic cretinism. Differences between the two types of cretinism may be explained by continuing postnatal thyroid hormone deficiency in the myxoedematous type, which results in impaired growth, skeletal retardation and sexual immaturity.
Adult↗
A comparative study of neurological and myxedematous endemic cretinism in western China.
Endemic cretinism occurs in areas of severe iodine deficiency and is manifested by two major clinical patterns, myxedematous and neurological. The relationship between these types and the factors responsible for the clinical variability are not clear. We examined 69 endemic cretins, aged 4-52 yr, categorized clinically at the beginning of the study into the three traditional types of endemic cretins, myxedematous (n = 25), neurological (n = 15), and the mixed form (n = 29), from a previously unreported endemia in Qinghai Province, China. These patients underwent detailed endocrine and neurological examination, including intelligence assessment using the Hiskey-Nebraska Test of Learning Aptitude or the Griffiths Mental Development Scales, audiometry (in a subset of 37 patients); thyroid function testing and thyroid ultrasonography; and radiology of the skull, hand, and hip. We found that categorization of the cretins into the conventional types did not reflect the pathophysiology of the condition, since an identical pattern and intensity of neurological, intellectual, and audiometric deficits were common to and equally present in all three types of endemic cretins regardless of their thyroid function. Gait disorder (in 99%) and pyramidal signs such as patellar hyper-reflexia (in 91%) were the most common neurological abnormalities. There was no difference in mean intelligence test scores among the three groups [overall mean intelligence score (Hiskey or Griffiths tests), 28.8 +/- 12.8 (SD)]. The differing clinical manifestations of cretinism could be explained by the length and severity of thyroid hormone deficiency. Myxedematous cretins were severely thyroid hormone deficient, and as a result sexually immature, dwarfed, and had retarded skeletal maturity. They had clinical and sonographic thyroid atrophy, rather than goiter. Although neurological cretins were euthyroid, linear growth arrest lines (demonstrated radiologically) in the long bones of these cretins suggested previous hypothyroidism. Furthermore, all cretins were growth retarded when compared with peers of similar age and race. Our data therefore suggest that the different clinical types of endemic cretinism are in fact the same disorder phenotypically modified by the length and severity of postnatal hypothyroidism. The neurological manifestations are interpreted as reflecting the effects of maternal and fetal hypothyroxinemia, secondary to severe iodine deficiency, on the developing nervous system.
Adolescent↗
Endemic cretinism: toward a unifying hypothesis.
Based on our data, the clinical picture of endemic cretinism results from the product of two pathophysiological events. Both events share a common feature, namely iodine deficiency, but act at different points in time. The first event occurs in all cretins and represents the prenatal action of thyroid hormone deficiency on brain development, transmitted vertically from mother to fetus, resulting in the neurological disorder of endemic cretinism. A consistent pattern and intensity of neurological, intellectual, and audiometric deficit is common to and equally present in all types of endemic cretin. The nature of these deficits points to an intrauterine insult to the developing fetal nervous system around the time of the midtrimester. The second event represents the postnatal action of thyroid hormone deficiency on somatic as well as brain development. Whereas previous workers had attributed the differences in the clinical presentation of endemic cretinism to the presence or absence of neurological features (i.e. prenatal hypothyroidism), the distinction between the types of endemic cretin can be related to the length and severity of postnatal thyroid hormone deficiency. Endemic cretins with predominant neurological features have had only transient hypothyroidism in the postnatal period, evidenced by their near normal thyroid function and by a lack of hypothyroid clinical features. By contrast, cretins with marked myxedematous features were characterized by permanent and severe postnatal thyroid hormone deficiency. These cretins, in addition to signs of neurological damage, were typically dwarfed, sexually immature, with marked clinical features of myxedema. This second event, influenced by the thyroid gland's morphologic response to its environment (goiter or thyroid atrophy), dictates the final clinical outcome. In conclusion, our hypothesis states that the clinical expression of endemic cretinism is determined by the sum of two pathophysiologic processes. The first process is fetal hypothyroidism which results in the neurological damage of the disorder and the second process is the duration and magnitude of postnatal hypothyroidism which dictates the final clinical appearance.
Animals↗
Clinical picture of endemic cretinism in central Apennines (Montefeltro).
Endemic cretinism is still present in an endemic goiter area of the central Apennines (Montefeltro) (goiter prevalence 55%; mean urinary iodine level 39 micrograms/g creatinine). Clinical and biochemical features of patients with myxedematous, neurologic, and mixed cretinism were studied. Also, in this area, as in most other, neurologic cretinism is more prevalent than myxedematous and mixed forms. The hormonal profiles of the three types of cretinism were clearly different. Nevertheless, all myxedematous cretins had some neurologic disorders (hyperreflexia, increased muscle tone, disorder of gait, Babinski sign, hypoacusia) that were similar to those present in neurologic cretins. These findings suggest that neurologic damage is very similar in all forms of endemic cretinism, reflecting a diffuse insult to the developing fetal nervous system. Furthermore, these data support the hypothesis that the primary pathophysiologic event in the different types of endemic cretinism is represented by maternal and fetal hypothyroidism, while differences may be explained by the extent and duration of postnatal hypothyroidism. All the cretins were over 35 of age, suggesting a severe iodine deficiency in the past decades, and a progressive improvement of nutritional status resulted in "silent iodine prophylaxis." However, recent studies have revealed the persistence of a moderate iodine deficiency, a high prevalence of neurologic hypoacusia, and reduction of mental performance in normal schoolchildren of this area. These findings constitute strong evidence in favor of adequate iodine prophylaxis.
Adult↗
Epidemiology and clinical characteristics of endemic cretinism in Sicily.
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.
Adolescent↗
Endemic cretinism in Sicily.
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 and 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.
Adolescent↗
Endemic goitre and cretinism in the Simbai and Tep-Tep areas of Madang Province, Papua New Guinea.
In the late 1960s and early 1970s a mass campaign of iodized oil injections was carried out in Papua New Guinea as an interim measure to improve iodine status in the population and to prevent endemic goitre and endemic cretinism. Following informal reports of children with neurological abnormalities resembling endemic cretinism in two areas of Madang Province, the Simbai and Tep-Tep Subdistricts, surveys were conducted in these areas in 1985 to establish prevalence rates of goitre and cretinism in order to determine whether they had returned as public health problems. 42% of the Simbai population and 38% of the Tep-Tep population attended for examination. Amongst those surveyed, the visible goitre rate was low: 0.1% in the Simbai and 2.5% in the Tep-Tep area. Although the iodized oil patrols were carried out a decade previously, goitre does not seem to have re-emerged in the area to the levels reported previously. In the Simbai villages surveyed, there were nine individuals diagnosed as suffering from cretinism, three of whom were thought to have been born after the last iodized oil patrol in the area. In the Tep-Tep villages, eight subjects were diagnosed as suffering from cretinism, all of whom were thought to have been born before the iodized oil patrols. A number of younger children with neurological abnormalities which did not fulfil criteria for endemic cretinism were also seen in both areas. Because of the difficulties in diagnosing endemic cretinism in young children, it is not possible to conclude that endemic cretinism is no longer a problem in these areas. More work is needed to confirm the results of these studies. This will enable a rational control program to be designed and implemented.
Adolescent↗
Studies of endemic cretinism in Papua New Guinea: digital and palmar dermatoglyphic patterns.
We have tested the hypothesis that the abnormal development of the central nervous system seen in endemic cretinism might be accompanied by concurrent abnormal dermatoglyphic patterns. We compared digital and palmar dermatoglyphics of normal individuals and endemic cretins inhabiting the Huon Peninsula of Papua New Guinea. The population sampled from the Irumu River Valley included 118 males and 114 females with 22 male cretins and 23 female cretins. The population sampled from the Wantoat River Valley included 72 males and 38 females with 12 male cretins. No pathognomonic patterns were found that could identify the endemic cretin subpopulation. However, the occurrence of a number of differences between controls and cretins suggests that subtle changes in dermatoglyphic patterns accompany the anomalous development of the CNS secondary to maternal iodine deficiency. We discuss the significance of these findings and compare the dermatoglyphic patterns of normal Irumu and Wantoat natives and 21 other populations of Papua New Guinea.
Congenital Hypothyroidism↗
Epidemiology of endemic cretinism in Sikkim, India.
A survey was conducted in Sikkim to determine the prevalence of endemic cretinism in the state. A household was the basic sampling unit. Villages were selected randomly in the state and from these households were selected randomly using the electoral lists. All members of the households were studied. Total of 17,837 individuals from 3,197 households from 249 villages were studied. There were 8,953 males and 8,884 females. A total of 617 endemic cretins were identified: 316 males and 301 females. The overall prevalence of endemic cretinism was 3.46%: (males 3.53% and females 3.39%). Endemic cretinism was observed in 194 (77.9%) villages studied. Neurological cretinism was the predominant form (98.7%). Deaf-mutism was the most salient neurological feature seen in 472 (76.5%) subjects. Motor system examination revealed proximal spasticity and brisk reflexes, both more marked in the lower limbs. Recording of daily life activities revealed 14.1% of the cretins to be totally dependent and another 23% to be requiring considerable assistance for their daily routine activities. The overall prevalence of goitre found in this survey was 54%. Urinary iodine concentration was estimated from a representative sample of the population; mean 4 micrograms/dl (SD 2.68). This survey shows the existence of severe iodine deficiency in Sikkim.
Adolescent↗
Comparative study of neurological and myxoedematous cretinism associated with severe iodine deficiency.
The clinical and biochemical features of myxoedematous and neurological cretinism were studied in an endemic goitre area in Algeria (goitre prevalence 51.3%; endemic cretinism 1.1%; mean urinary iodine level 127.6 nmol/l). When comparing the data collected in six different villages of the area, significant negative correlations were found between the decrease in urinary iodide and iodide/thiocyanate ratio (I/SCN) and the increase in prevalences of visible goitres, endemic cretinism and transient neonatal hypothyroidism. The cretins were divided on clinical signs into two groups: myxoedematous (MC) and neurological (NC) cretinism. Differences were noted in the neurological signs and the type of deafness encountered in both types. Although some overlap did exist, proximal spasticity and rigidity were characteristic of NC. The hormonal profiles of the two groups, including TRH tests, were clearly different. The two groups were similar with regard to the percentage of palpable thyroids, the absence of antimicrosomal and anti-thyroglobulin antibodies, seropositive viral antibodies and thiocyanate concentrations in serum and urine. Thus it is unlikely that these factors have any significant aetiological role in NC. The data collected in the general population in this area and those obtained in the mothers of the myxoedematous and neurological cretins support the hypothesis that the neurological signs are the result of hypothyroxinaemia in the mothers and the fetus at different periods of pregnancy. They could be aggravated by neonatal hypothyroidism, which may be transient in NC and permanent in MC.
Adolescent↗
Hypothyroidism in an area of endemic goiter and cretinism in Central Java, Indonesia.
In an area of severe endemic goiter in Central Java, Indonesia, clinical overt or mild hypothyroidism appeared to be present in 7 out of 20 cretins and also in 12 out of 94 non-cretinous subjects, all 5-20 years of age, living in the village of Sengi. Hypothyroidism was not found in a control group of 70 subjects of the same age living in Londjong just outside the edemia. In hypothyroid subjects the plasma PBI-concentration was 0.98+/-0.32 mug/100 ml (mean+/-SD) vs. 2.72+/-1.24 mug/100 ml in euthyroid subjects from Sengi and 4.86+/-0.80 mug/100 ml in controls from Londjong. Values for T3 were 56.3+/-3.17 ng/100 ml in hypothyroids, 140.5+/-38.5 ng/100 ml in euthyroids from Sengi and 121.6+/-27.4 ng/100 ml in controls. The TSH levels (geometric mean and range) in these 3 groups were, respectively, 210.1 (108.0-342), 15.6 (3.0-372) and 4.1 (0.8-7.0) muU/ml. The differences between the mean concentration of PBI, T3 and TSH in the hypothyroid and euthyroid groups were highly significant (P less than 0.001). These data strengthen the clinical diagnosis of hypothyroidism in cretins as well as in non-cretinous subjects. All hypothyroid subjects had a PBI less than 1.8 mug/100 ml and T3 less than 120 ng/100 ml and TSH greater than 100 muU/ml. In 8 hypothyroid subjects, restudied 18 months after iodized oil injection, hypothyroidism was either corrected or markedly improved. It therefore appears that iodine deficiency per se in postnatal life may lead to (juvenile) hypothyroidism, which can be corrected by iodine therapy. Our findings have implications for the definition and diagnosis of endemic cretinism. Not all hypothyroid subjects in an area of endemic iodine deficiency should be classified as cretins.
Adolescent↗
Studies on hearing loss in a community with endemic cretinism in Central Java, Indonesia.
An audiometric study was carried out in a community of 642 subjects severly affected by endemic goitre and cretinism. Hearing loss was measured in 34 out of 41 subjects diagnosed as cretins, 92 normal subjects aged 5-20 years from the same community and 54 subjects (also of 5-20 years) living in a nearby control area without endemic goitre. The excess number of hearing defects in the endemic area seems to be entirely due to the process that leads to cretinism. There is no reason to describe deafness and deafmutism in an area with severe endemic goitre as a separate entity. The hearing defect showed a definite greater loss in the higher frequencies than in the lower frequencies and was found in 92% of the cretins. Deafmutism was present in 5, a loss of more than 60 db in 8, a loss of 40-60 db in 10 cretins. A loss of 20-30 db was found in 2.2% of normal subjects in the endemic area and 1.8% of those living in the control area. It is concluded that audiometry is a simple and significant test to establish the presence of the neurological form of endemic cretinism, which is the most prevalent form in most endemias. The differential diagnosis and pathogenesis of the described hearing defect are discussed.
Adolescent↗