Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome

In three children with Down syndrome and acquired hypothyroidism echocardiography was performed before and after the start ofl-thyroxine treatment. Initial studies revealed pericardial effusions which resolved during treatment suggesting that they were caused by hypothyroidism. The incidence of hypothyroidism in Down syndrome is high, but the diagnosis is often missed for lack of specific clinical criteria. The finding of pericardial effusion by echocardiography may be essential in discovering thyroid dysfunction. The cases illustrate that regular thyroid function tests are important in Down syndrome.     

Primary Hypothyroidism with Pituitary Enlargement and a Visual Field Abnormality

A 23 year old man presented with classical hypothyroidism of 9 years duration. This was associated with pituitary enlargement, documented on magnetic resonance imaging (MRI), and abnormal half-field visual evoked responses (VERs). Following the initiation of thyroxine therapy the pituitary enlargement and the VER abnormalities resolved. The final diagnosis was of primary hypothyroidism with secondary pituitary hyperplasia.     

Polyneuropathy in hypothyroidism

Summary Clinical and sural nerve biopsy findings are described in four hypothyroid patients with manifestations of a diffuse peripheral neuropathy. Clinical examination revealed distal sensory inpairment, complaints of burning and lancinating extremity pains, ataxia and a decrease of deep tendon reflexes with total ankle jerk loss. In one patient, signs of the peripheral neuropathy comprised the leading symptomatology of the underlying metabolic disorder. Light and electron microscopic investigations of the sural nerve biopsies revealed a marked reduction of myelinated fibers, affecting mainly the large myelinated axons. The histograms showed a pathological unimodal spectrum of myelinated fiber diameters. Dystrophic and degenerative changes in axons of all fiber classes and the presence of clusters of thinly myelinated small fibers suggest that neuroaxonal degeneration and incomplete regeneration may represent the major pathogenetic mechanism of the neuropathy in these hypothyroid patients. Neuropathological studies on myxoedematous neuropathy are as scarce and insufficient as studies on myxoedematous myopathy are abundant and detailed. G. W. Bruyn and H. Garland, 1970     

Effects of induced thyroid deficiency on the development of suckling behavior in rats

The effects of propylthiouracil (PTU) on the ontogeny of suckling behavior in rats were examined. The drug was given at two dosage levels of 0.3% and 0.5% respectively mixed with rat diet throughout gestation and suckling. The thyroid glands of treated fetuses and pups and of untreated control animals of the same age groups were monitored by histologic examination. At the behavioral level, the frequency of individual movements of head, forelimbs and mouth was significantly reduced in treated fetuses. The combination movements of head, mouth and forelimbs showed severe deficits both quantitatively and qualitatively for all ages in the experimental group from day 18 of gestation. Hypothyroid pups of dams raised on 0.5% PTU were unable to attach to the nipple of the mother and died within a few days. Pups of dams raised on 0.3% PTU showed longer latencies for nipple attachment, and their gross motor movements of rooting and suckling were greatly impaired. These results have been discussed in relation to the development of suckling behavior to indicate that, during ontogeny, some decisive step in the integration of individual movements takes place in utero from day 18 of gestation. This coincides with the establishment of pituitary thyroid relationship, which is continued through postnatal stages.     

Quantitative 123I-iodide scintigraphy and radiation dosimetry in infants with congenital hypothyroidism

Quantitative studies of ¹²³I-iodide uptake using a gamma camera were undertaken in 23 infants with congenital hypothyroidism. Background oral radioactivity was reduced by ensuring that the infants drank fruit juice during the study. In 7 cases, there was no evidence of functioning thyroid tissue, in 13 cases, lingual tissue was present, and in 3 cases, there was uptake at the normal thyroid site. Dyshormonogenesis, as shown by a positive perchlorate discharge at 30–60 min after radioiodine administration, was present in 5 of the cases with demonstrable uptake. The estimated 20-min uptake of ¹²³I-iodide was less than 2.6% of the dose in all cases except 1; in this case, the uptake was 10.4%, but this was completely discharged by perchlorate. There was good agreement between the quantitative radioiodine-uptake and-discharge results and the circulating thyroid-hormone levels. The estimated radiation dose to thyroid tissue using the technique was 9.2 mSv for an intravenous administration of 2MBq ¹²³I-iodide.Formerly at the Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, Scotland     

Bilateral anotia with congenital hypothyroidism

Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections.The patient had bilaterally absent pinnae; instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism     

Chronic mucocutaneous candidiasis and primary hypothyroidism in two families

We describe the clinical and immunological features of two families with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Family A includes three siblings with both candidiasis and hypothyroidism and four individuals with hypothyroidism only. Family B includes four members with candidiasis, of whom one (a male child) also had hypothyroidism. All individuals affected with CMC had suffered from oral candidiasis and onychomycosis since infancy. Facial seborrhoic dermatitis, general folliculitis and scaling blepharitis were main manifestations. Hypothyroidism became evident during childhood. No thyroid antibodies were present in the affected siblings in family A, while the male in family B with hypothyroidism had antibodies against thyroid peroxidase at diagnosis. Immunological evaluation revealed intra-individual variations in serum immunoglobulin levels, lymphocyte subsets and proliferative responses, but there were no consistent abnormalities. Vaccine responses were normal. AIRE gene region microsatellite markers did not segregate with disease nor were autoantibodies typical for autoimmune polyendocrine syndrome type 1 detected in the families. Conclusion: the link between hypothyroidism and chronic mucocutaneous candidiasis remains to be identified.Abbreviations AADC aromatic l -amino acid decarboxylase - APS 1 autoimmune polyendocrine syndrome type 1 - CMC chronic mucocutaneous candidiasis - GAD glutamic acid decarboxylase - MBL mannose-binding lectin - 17OH 17-hydroxylase - 21OH 21-hydroxylase - SCC side-chain cleaving enzyme - TG-Ab anti-thyroglobulin antibodies - TPO-Ab anti-thyroperoxidase antibodies     

Kocher-Debre-Semelaigne syndrome: Hypothyroidism with muscle pseudohypertrophy

Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy. The second child had similar manifestations but was only fifteen months of age at diagnosis. This is one of the youngest patients reported to have the Kocher-Debre-Semelaigne syndrome. A short review of the literature is also presented.     

Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening

Aim: To investigate the final adult heights and pubertal growth patterns in Japanese patients with congenital hypothyroidism (CH) detected by neonatal screening. Methods: A retrospective chart review was conducted of female patients >15 y of age (n = 18) and male patients >18 y of age (n = 9), who were detected by neonatal screening and kept on continuous thyroid hormone replacement therapy. Final height standard deviation scores (FHSDS) and target height standard deviation scores (THSDS) were determined. Parameters characterizing the pubertal growth process (such as age at onset of pubertal growth spurt and age at peak pubertal growth) were obtained from each patient's growth rate chart. Menarchial age was determined in each female patient by reviewing the medical record. The impact on FHSDS of the etiology of CH, the severity of CH, the time of initiation of therapy and the adequacy of treatment during the first year of life was assessed. Results: All patients had received initial thyroid hormone treatment no later than 50 d of age, and had reached their final height. The mean FHSDS for female and male patients were +0.17 ± 0.99 and -0.03 ± 0.99, respectively. The mean FHSDS-THSDS for female and male patients was +0.09 ± 0.77 and -0.19 ± 0.53, respectively. No difference was seen in pubertal growth parameters for either gender compared with that of the reference population, except for a greater peak height velocity and pubertal height gain in male patients. The mean menarchial age was identical to that of the reference population. No significant relationship was found between the FHSDS and any of the factors investigated.

Conclusion: The adult height of patients with CH detected by neonatal screening was equivalent to that of the reference population and their target height. As long as early intervention and satisfactory management are ensured, severe CH does not appear to reduce final adult height.     

Mild thyroid hormones deficiency modifies benzodiazepine and mu-opioid receptor binding in rats

The effects of a mild hypothyroidism condition on benzodiazepine (BDZ) and mu opioid receptor levels was investigated. Female Wistar rats were randomly divided into two groups: 1) hypothyroid rats (n=7), which received methimazole (60 mg/kg per day) in drinking water for four weeks, and 2) euthyroid rats (n=8), which drank only tap water. Animals were sacrificed and their brains were used for autoradiography experiments. When compared to the euthyroid group, the hypothyroid group presented reduced benzodiazepine receptor binding in medial amygdala (24%) and high mu-receptor levels in frontal (25%), sensorimotor (65%) and temporal (29%) cortices, basolateral amygdala (50%) and ventroposterior thalamic nucleus (49%). The present data suggest that alterations in BDZ and mu-receptor binding could be associated with the higher excitability observed in animals with triiodothyronine (T(3)) deficiency.