Genetic and clinical features of 42 kindreds with resistance to thyroid hormone: the National Institutes of Health prospective study

Article Abstract:

Researchers may have identified some new characteristics in patients with thyroid hormone resistance in addition to confirming widely recognized characteristics. Thyroid hormone resistance is a condition in which the receptors in the pituitary gland and or other organs of the body inadequately respond to the stimulation of thyroid hormones. Doctors evaluated the family histories and laboratory and clinical test results of 104 patients with thyroid hormone resistance (study group) who were from 42 unrelated families and 114 of their family members (controls). The study group had more ear and upper respiratory infections as compared to the controls. They found that 24% of the study group had delays in speech development and 18% had problems with stuttering as compared to 10% and 4%, respectively, in the control group. Of the children in the study group, 30% were too slender for their height and age. They also found genetic and clinical correlations between mothers and children with thyroid hormone resistance.

Diagnosis, Thyroid diseases

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Presynaptic dopaminergic deficits in Lesch-Nyhan disease

Article Abstract:

A disorder in the processing of the neurotransmitter dopamine may explain some of the neurological and behavioral aspects of Lesch-Nyhan disease. Lesch-Nyhan disease is a genetic disease characterized by abnormalities in purine metabolism. Researchers used positron-emission tomography (PET) and a labelled chemical similar to the chemical dopa to study the metabolism of dopamine in 12 patients with Lesch-Nyhan disease and 15 healthy volunteers. The labelled chemical was infused intravenously and converted in the brain to labelled dopamine. PET scans showed that the patients with Lesch-Nyhan disease had less labelled dopamine than the healthy participants. This decrease in activity occurred in all of the major areas of the brain that use dopamine. The drop in dopamine activity in these patients resembles that seen in Parkinson's patients but anti-Parkinson's drugs have not been effective in Lesch-Nyhan disease.

Dopamine, Lesch-Nyhan syndrome

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Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone

Article Abstract:

Individuals with generalized resistance to thyroid hormone may have a higher risk of developing attention deficit-hyperactivity disorder than other individuals. Generalized resistance to thyroid hormone is characterized by decreased response of peripheral and pituitary gland tissues to thyroid hormone. Among 104 adults and children in whom responsiveness to thyroid hormone was measured, 49 had attention deficit-hyperactivity disorder and 55 did not. Fifty percent of the adults with resistance to thyroid hormone had attention deficit-hyperactivity disorder, compared with only 7% of the adults with normal responsiveness to thyroid hormone. Seventy percent of the children with resistance to thyroid hormone had attention deficit-hyperactivity disorder, compared with only 20% of the children with normal responsiveness to thyroid hormone.

Attention-deficit hyperactivity disorder, Attention deficit hyperactivity disorder

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