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PubMed1982

Treatment of ovine cretinism in utero with 3,5-dimethyl-3'-isopropyl-L-thyronine.

Placental transfer of iodothyronines is minimal in most species. The nonhalogenated thyroid hormone analog 3,5-dimethyl-3'-isopropyl-L-thyronine (DIMIT) was administered to pregnant ewes to determine if this compound could prevent cretinism in the thyroidectomized fetal lamb. Pharmacokinetic studies comparing [125I]T3 and [3H]DIMIT resulted in fetal-maternal ratios for [3H]DIMIT which were 5- to 10-fold higher than the ratios for [125I]T3, suggestive of preferential transport of DIMIT across the placenta. Subsequently, DIMIT was administered to three pregnant ewes after hysterotomy and fetal thyroidectomy at 95-98 days gestation. Intramuscular DIMIT (1200-2000 micrograms/day) caused suppression of maternal T4 concentrations from a mean of 4.9 micrograms/dl before hysterotomy to less than 1 micrograms/dl within 1-2 weeks. All three thyroidectomized lambs had clinical signs of cretinism at birth and died. Skeletal and lung maturation were delayed in these animals, all of whom had undetectable serum T4 concentrations. In contrast to DIMIT's proven thyromimetic activity in other fetal animal models, this thyroid hormone analog failed to prevent cretinism in thyroidectomized fetal lambs even when administered to the ewe at a dose that suppressed maternal thyroid function.

Animals↗
PubMed2003

The longitudinal course of two cases with cretinism diagnosed after adolescence.

In Japan, mass screening tests on newborns for Cretinism have been performed since 1984, Cretinism is a very rare condition. We report the clinical course and complications of longitudinal thyroid hormone replacement therapy (liothyronine sodium: T3) of two women with Cretinism and ectopic thyroid gland for the past 33 years until 2001. They were born in April 1951 (Case 1) and in January 1952 (Case 2). On admission in June 1968, they were 17 and 16 years old. They had short stature, mental retardation, macroglossia, saddle nose, retardation of bone maturation, edematous face, coexistence of permanent teeth and deciduous teeth, abdominal distention, hypotonia, anemia, hypophosphatemia and hypercholesterolemia. After admission, Case 2 had an appendectomy for appendicitis. She was found to have a right ovarian cyst, but was not operated upon. Later, the right ovarian cyst disappeared during thyroid hormone replacement therapy. The complication in this case was NIDDM. Over secretion of thyroid hormone in for example, hyperthyroidism sometimes induces NIDDM. On their admission, a levothyroxine sodium (T4: Thyradin S) was unavailable in Japan, so we had no choice but to treat them with liothyronine sodium for thyroid hormone replacement therapy. We suspect that liothyronine sodium replacement therapy probably induced NIDDM. They experienced improved bone maturation, anemia, hypophsphatemia and hypercholesterolemia, but their intellectual and mental disabilities were not improved.

Adolescent↗
PubMed1987

Selenium deficiency as a possible factor in the pathogenesis of myxoedematous endemic cretinism.

Myxoedematous endemic cretinism is prevalent in African goitre endemies. It has been related to a thyroid 'exhaustion' atrophy occurring near birth. It is proposed that this might result from the low resistance of a fragile tissue to enhanced H2O2 generation under intense thyroid stimulation by thyrotropin. In support of this hypothesis, low selenium and glutathione peroxidase serum levels have been found in the African endemic area of the Idjwi Island (Kivu, Zaire). Serum selenium and plasma glutathione peroxidase were lower in the area of high endemicity of goitre and cretinism (Northern part of the Island). However, only the former difference is statistically significant. These data thus suggest a role of oligoelements and oxygen toxicity in the pathogenesis of endemic cretinism.

Adolescent↗
PubMed1998

Endemic cretinism in a traditional society in Mali: from the collectivity to the individual.

The prevalence of endemic cretinism was measured in a village belonging to the Bwa ethnic group in Mali liable to iodine deficiency and suffering from endemic goitre. In this village according to mental and motor handicaps found in cretinism, we used two psychometric tests: the Raven's Progressive Matrice (PM 47) and a "peg test". Using the fiduciary inference method on the two tests associated with a clinical and qualitative approach, we obtained a prevalence of myxedematous cretinism close to 1.2%.

Adolescent↗
PubMed1998

The prevalence of goitre and cretinism in a population of the west Ivory Coast.

Iodine deficiency is a major public health problem in developing countries. The main areas where goitre is prevalent have been identified, but the different degrees of severity and the populations affected have not. Most countries are now attempting to obtain reliable and more extensive data. A pilot study was carried out in the Ivory Coast in order to improve epidemiological knowledge of iodine deficiency and collect the information required to set up an elimination programme. The aim of this study was to assess the prevalence of goitre and cretinism and to measure the main biochemical indicators of thyroid function (T3, T4 and TSH). The study involved 1433 people identified from a census. The prevalence of goitre was 50.3%. There was a significant difference between the examined ethnic groups: 52.7% of the Yacouba and 28.6% of the non-Yacouba had goitre. The most affected age group was 15-45 year. The predominance of women demonstrated the susceptibility of women at child-bearing age to develop the condition. The prevalence of cretinism was approximately 1.5%. Through the assessment carried out using a grid of clinical indicators, it was possible to identify 10 cases of laboratory proven myxedematous cretinism due to hypothyroidism. The concentration of iodine in foodstuffs was below the limit of detection (< 7.5 micrograms/kg) and iodine could not be detected in the water (< 1 microgram.l) The biological profile of the population was affected to a very limited extent, with a mean value (+/- standard deviation) for TSH of 1.93 (+/- 1.56) mIU/l (0.1-4.0) and a free T4 value of 10 (+/- 3.46) pmol/l (8.2-20). These initial results confirm the high prevalence of endemic goitre and the low iodine content of the soil, water and food in the investigated region. The study will be complemented by a nutritional investigation to improve the understanding of iodine balance, after which an appropriate action plan will be proposed.

Adolescent↗
PubMed1992

[Reaction of serum growth hormone in patients with endemic cretinism to arginine and clonidine in continuous excitement tests].

Reaction of serum growth hormone in cretins whose pituitary and thyroid function have returned to normal in IDD-control by using iodized salt to arginine and clonidine in continuous excitement tests ws observed. The result is that during the phase of clonidine excitement, serum growth hormone in cretins was obviously lower than that in normal controls and the reaction peak value, maximum increase value and reaction time all markedly lower than those of the normal controls. 3 cases (18.8%) had no excitement reaction during the phase of arginine excitement, 8 cases (50.0%) no reaction during the phase of clonidine excitement and 2 cases (12.5%) no reaction in the entire process of continuous tests. The results indicate that patients with cretinism suffer from low reserve function of pituitary growth hormone and insufficiency of synthesis even after ther thyroid function has returned to normal.

Adolescent↗
PubMed1983

TSH secretion and regulation in endemic goiter and endemic cretinism.

In endemic goiter patients living in a chronic iodide deficiency area (less than 50ug/day) TSH basal levels and the TSH response to TRH is significantly higher (31 +/- 8uU/ml) than in normal controls (10 +/- 4uU/ml). There is a negative correlation between levels of iodine intake and serum TSH concentration and thyrotropin is thus increased when iodine decreased. Also it was shown that serum TSH levels correlate inversely with the serum concentration of T4 (r=0.69) but not with the usually normal or elevated serum concentration of T3 in endemic goiter patients. It has been postulated that in the absence of appropriate serum levels of T4 the pituitary thyrotrophs have an abnormally low T4 to T3 conversion and the pituitary-nuclear/serum T3 ratio does not increase sufficiently to compensate this phenomenon. On the other hand nuclear receptor saturation of T3 in tissues such as liver and kidney would remain at euthyroid levels due to the higher serum T3 concentrations. Endemic goiter patients when moving to an urban area where iodine intake is higher (greater than 150ug/day) than in the rural villages, had a blunted TSH response to TRH (15/23 subjects) or developed a mild clinical and laboratory picture of hyperthyroidism (7/23 individuals). Serum TSH levels and the TSH response to TRH is abnormally elevated in the myxedematous type of endemic cretinism but more than one third of the neurological goitrous cretins (euthyroid) have an exaggerated and sustained TSH response to TRH. This has been considered as a decreased thyroid reserve. Measurement of alpha subunits and TSH-beta in both types of endemic cretinism demonstrated that although these patients have a marked enlargement of the sella turcica the alpha subunits, although higher than normal (1.7-3.4 ng/ml) were not suggestive of a pituitary tumour. The pituitary enlargement was probably secondary to the long standing untreated thyroid failure.

Adult↗
PubMed1959

Sporadic goitrous cretinism.

Five to 10 per cent of cretinism in the United States is due to some congenital enzymatic defect in thyroid hormone synthesis. The clinical signs of hypothyroidism appear in early infancy. Differentiation from athyreotic cretinism is important because the metabolic defect tends to be familial and its presence in the patient's infant relatives should be diagnosed as early as possible. The differentiation is easily made if a goiter is discernible, but if it is not, radioiodine uptake should be measured, for in this condition the uptake is normal or greater. Thyroid replacement is the treatment in either the athyreotic state or the metabolic deficiency. The three known defects in thyroid hormone synthesis are (1) failure to oxidize iodine to elemental iodine resulting in failure of all subsequent processes; (2) failure to deiodinate free iodotyrosine, and (3) failure to form iodothyronine although the previous steps are accomplished.

Congenital Hypothyroidism↗
PubMed1990

Clinical pattern and the genetics of the fetal iodine deficiency disorder (endemic cretinism): results of a field study in Highland Ecuador.

The clinical manifestations of various degrees of mental retardation, spastic diplegia, and deaf mutism are known as the neurologic type of endemic cretinism (EC), occurring in countries with high goiter endemicity. Maternal iodine deficiency has been established as the major cause in EC, whereas a genetic predisposition has not been well-documented. Genetic data on 70 families with EC from Highland Ecuador are reported. A segregation analysis of 49 fully classified families yielded an estimate of P = 0.245 (var [P] = 0.00167). Half-sibs were all unaffected and no significant birth order effect was observed among 101 probands. The data indicate an autosomal recessive predisposition as a major etiological factor. Because the neurologic type of EC represents a defined section of the spectrum of iodine deficiency disorders (IDD), the term fetal iodine deficiency disorder (FIDD) rather than cretinism is suggested. The clinical findings in 70 patients were used to delineate the minimal diagnostic criteria of FIDD.

Abnormalities, Multiple↗
PubMedDate not supplied

Alterations in hair shaft morphology in the cretin rat.

Hair samples were obtained from rats rendered hypothyroid in utero, when these animals reached 35 days of post-gestational age. The hairs were examined by scanning electron microscopy at a point on the shaft 340 mu from the bulb. All hairs, in the anagen phase, when compared, indicated that cretin rats had thinner hair shafts, more closely spaced cuticle cells, and more cuticle cells per unit of hair shaft. The surfaces of hairs from cretin rats were coronal, acuminated, and had dentate margins. It is therefore apparent that congenital hypothyroidism in rats affects the density, thickness, and surface characteristics of the hair.

Animals↗
PubMed1985

Association of peroxidase enzyme defect and low thyroglobulin content in a case of endemic cretinism.

Neurological endemic cretinism is highly prevalent in severe endemic goiter areas. Often associated to euthyroid goiter, it is probably related to iodine deficiency. However the exact pathogenetic mechanism is yet unclear. We report the biochemical study of thyroid tissue obtained from a 26 year-old female cretin with a grade III multinodular goiter, neurological signs and euthyroidism. After surgery, thyroid tissue was analysed: iodoproteins where characterized by gel filtration, electrophoresis, sedimentation coefficient and antigenicity. Iodoalbumin was predominant while thyroglobulin was quantitatively reduced and poorly iodinated. In vitro, iodination with hog thyroid peroxidase was normal. There was no difference in peroxidase affinity for iodide in the oxidation reaction but a significantly reduced ability to iodinate in vitro thyroglobulin and free tyrosine. Oxidation of acetyltyrosilamide into bityrosine was also markedly reduced. These abnormal findings are known to occur in sporadic cases with or without hypothyroidism. The neurological defects could be linked to transient hypothyroidism during the critical period of nervous system maturation, however a role of iodine deficiency per se cannot be ruled out.

Adult↗
PubMed1992

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.

Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific transcription activator, Pit-1/GHF-1 (designated PIT1 in humans for pituitary specific factor 1). This is the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.

Amino Acid Sequence↗
PubMed1987

A controlled trial of iodinated oil for the prevention of endemic cretinism: a long-term follow-up.

A double blind controlled trial designed to examine the effectiveness of intramuscular iodinated oil as a prophylactic for the nervous type of endemic cretinism was begun in 1966 in the highlands of Papua New Guinea. Infants born into the trial between 1966 and 1972 were followed up until 1982. The results showed that if the iodine supplement was given before conception the nervous form of endemic cretinism was prevented. Also a striking difference in the 15-year cumulative survival rate in favour of the test (iodinated oil) group was observed. Measures of motor and intellectual function revealed that children born to mothers given an iodine supplement performed significantly better. This observation shows that iodine deficiency leads to sub-clinical as well as clinical deficits. It also justifies the use of the term iodine deficiency disorder to cover the polymorphic nature of the abnormalities attributable to iodine deficiency.

Adolescent↗
PubMed1977

Strategy of goitre and cretinism control in Central Africa.

Goitre prevalence in Ubangi Mongala (north-western Zaïre) ranges from 27 to 60 per cent in the male population and from 48 to 78 per cent in the female population; the prevalence of cretinism ranges between 0.7 and 7.6 per cent. This severe endemia affects 1.5 million inhabitants and constitutes a major public health problem. If administered to an entire population, single injections of slowly resorbable iodized oil can reduce goitre prevalence substantially, correct the iodine deficiency and restore normal thyroid function for a period of 3 to 7 years, depending on the parameter considered. The cost of programme of endemic goitre prevention based on this method can be estimated at 0.07 US dollars per person and per year of protection. A strategy of goitre and cretinism control in Central Africa, using iodized oil in an attack phase and iodized salt in a follow-up phase, is proposed. The organization of this programme will be dovetailed into other public health activities and will strengthen the basic health service framework.

Adolescent↗
PubMed1995

Maternal hypothyroxinaemia during the first half of gestation in an iodine deficient area with endemic cretinism and related disorders.

OBJECTIVE: Iodine deficiency is well known as the cause of several disorders such as endemic goitre and cretinism, along with a wide spectrum of psychoneurological development disorders including endemic mental deficiency and endemic cognitive deficiency, which are generally correlated to damage to the fetus. Such damage is, by inference, deemed a consequence either directly of iodine deficiency or of insufficient availability of thyroxine at the feto-placental unit level. Early pregnancy represents the crucial period for neurogenesis in the embryo. Several experimental studies have emphasized the direct role of maternal T4 in neurological embryogenesis, before the onset of fetal thyroid function and, therefore, its protective role in fetal thyroid failure. The objective of this study was to evaluate whether iodine deficiency may influence thyroid status of pregnant women throughout the first half of pregnancy. DESIGN: Thyroid function tests including total and free T4 and T3, TBG and TSH along with urinary iodine excretion were measured in the serum of pregnant women from an iodine deficient endemic goitre area in north-eastern Sicily, at 8, 13 and 20 weeks of gestation. The times of sampling were chosen to correspond approximately to a period prior to, coincident with and after the onset of fetal thyroid function, respectively. SUBJECTS: The longitudinal study was undertaken in 16 euthyroid pregnant women from the iodine deficient area in which major iodine deficiency disorders such as endemic cretinism and endemic cognitive deficiency in schoolchildren still persist (area A) and in 7 age matched volunteer pregnant women from a marginally iodine sufficient area (area B). MEASUREMENTS: Hormones and TBG were measured using commercial kits. Urinary iodine was measured by an automated method. RESULTS: The divergent changes in serum T4 and TBG with pregnancy progression induced a progressive TBG desaturation by T4 during the whole study period (from 22 to 17% in area A, ANOVA two-way F = 18.9, P < 0.0001; from 33 to 20% in area B, F = 20.7, P < 0.0005) in both areas. At 20 weeks, average FT4 levels were lower in area A than in area B (11.5 +/- 2.5 vs 14.3 +/- 2.4 pmol/l, t = 2.7 P < 0.01) and were below the normal range in 2/16 and borderline-low in 6/16 pregnant women. FT4 serum levels were inversely related to TSH concentrations (r = -0.54, P < 0.0001) which progressively increased, in area A, during the whole study period (F = 6.0, P < 0.01) and were abnormally high in the two women with low FT4, but not in area B. Also in area A (F = 3.4, P < 0.05) a significant T3/T4 molar ratio increase was observed. CONCLUSIONS: Iodine deficiency induces in early pregnancy a series of events (reduced synthesis of maternal T4, TBG desaturation by T4, critical decrease of FT4 levels with consequent TSH increase) responsible for overt or marginal biochemical hypothyroidism in about 50% of pregnant women. It is hypothesized that the imbalance of maternal thyroid hormone homeostasis during pregnancy as a consequence of endemic iodine deficiency may be responsible for the impaired psychoneurological development observed in children from that area so appropriate iodine and/or thyroxine prophylaxis to women in that region may prevent the neurobehavioural, cognitive and motor compromise of the population.

Adolescent↗
PubMed1977

Nervous endemic cretinism in Eastern Nepal.

31 children and adolescents from the mountainous region of Eastern Nepal were examined in order to outline the clinical pattern of cretinism found there. They correspond to the description of nervous endemic cretinism found elsewhere: psychomotor retardation, deafness, and a variable degree of spastic diplegia. There was no clinical evidence of hypothyroidism. The disorder appears to be related to gestational iodine deficiency and it is suggested that injections of iodinated poppyseed oil ("Lipiodol") would be the most suitable form of prophylaxis.

Adolescent↗
PubMedDate not supplied

Cretinism in a North American black bear (Ursus americanus).

Congenital hyperplastic goiter and cretinism were documented in a 16 month-old male North American black bear (Ursus americanus). The cub was captured at approximately 8 months of age and maintained for an additional 8 months in captivity. Clinical signs included growth retardation, clumsiness, and facial dysmorphism. Hypothyroidism was documented by determining serum triiodothyronine (T3) and thyroxine (T4) levels. Lysosomal storage disease was ruled out by measuring various lysosomal enzyme activities. Serologic, radiographic, computed tomographic, necropsy, and histopathologic findings were consistent with congenital hypothyroidism and cretinism.

Animals↗