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Congenital central hypothyroidism
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. [from ORDO]
Highly elevated creatine kinase
An increased CPK level between 4X and 50X above the upper normal level. [from HPO]
Decreased thyroid-stimulating hormone level
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. [from HPO]
Neonatal thyrotoxicosis
A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. [from NCI]
Central hypothyroidism
A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. [from HPO]
Tolosa-Hunt syndrome
An ophthalmoplegic syndrome, affecting all age groups, with characteristics of acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others. [from SNOMEDCT_US]
Hypothyroidism
Deficiency of thyroid hormone. [from HPO]
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