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A Comparative Study of Neurological and Myxedematous Endemic Cretinism in Western China^*

STEVEN C. BOYAGES, JEAN-PIERRE HALPERN, GLEN F. MABERLY, CRESWELL J. EASTMAN, JOHN MORRIS, JOHN COLLINS, JIM J. JUPP, JIN CHEN-EN, WANG ZHENG-HUA and YOU CHUAN-YI, MD

Endocrine (S.C.B., G.F.M., C.J.E.), and Neurology Units (J.-P.H., J.M.), Department of Medicine, University of Sydney, Westmead Hospital Westmead, 2145, Australia
School of Behavioural Sciences (J.J.J.), Macquarie University Australia
Qinghai Institute of Endemic Diseases (J.C., W.Z.-H.), and First Peoples’ Hospital (Y.C.-Y.) Qinghai Province, Peoples’ Republic of China

Address correspondence and requests for reprints to: S. C. B., Endocrine Unit, Department of Medicine, Westmead Hospital, Westmead 2145, Australia.

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.

^* This paper describes the results of a cooperative project between the Ministry of Public Health of the People’s Republic of China and the Australian International Assistance Development Bureau. This work was supported in part by the National Health and Medical Research Council (NHMRC) of Australia.

Recipients of NHMRC postgraduate medical scholarships.

Received March 28, 1988.

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