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J. Neel, E. Carr, W. Beierwaltes, R. Davidson (1961)
Genetic studies on the congenitally hypothyroid.Pediatrics, 27
H. Cross, C. Hollander, D. Rimoin, V. McKusick (1968)
Familial agoitrous cretinism accompanied by musclar hypertrophy.Pediatrics, 41 2
W. Greig, A. Henderson, J. Boyle, E. Mcgirr, J. Hutchison (1966)
Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child.The Journal of clinical endocrinology and metabolism, 26 12
Kelley VC Ainger LE (1955)
Familial athyreotic cretinism: Report of three casesJ Clin Endocrinol, 15
D. Hubble (1965)
Diagnosis and Treatment of Endocrine Disorders in Childhood and AdolescenceBritish Medical Journal, 2
Gardner LI Childs B (1954)
Etiologic factors in sporadic cretinismAnn Hum Genet, 19
Dussault JH Fisher DA (1979)
Screening for congenital hypothyroidism: Results of screening 1 million North American infantsJ Pediatr, 94
Abstract Congential hypothyroidism generally is divided into sporadic (nongoitrous) and goitrous types.1.2 The non-endemic goitrous variety usually has been associated with enzymatic defects inherited as autosomal recessive traits.3 Persons with sporadic hypothyroidism do not have goiters and may not have demonstrable thyroid tissue. The aplastic or hypoplastic type of primary hypothyroidism has been found to occur in 63% of infants indentified in newborn screening programs.4 This condition has not been considered to be genetically transmitted, since rarely is more than one family member affected. Previous case reports in the literature have not demonstrated successfully that hereditary nongoitrous hypothyroidism can occur, but recently we have seen two siblings with congenital hypothyroidism in whom no thyroid tissue could be detected by throid imaging. Report ofCases.—Case 1.—A boy who was 6 years 5 months old was referred to the Texas Children's Hospital, Houston, for evaluation of possible hypothyroidism. Gestation References 1. Childs B, Gardner LI: Etiologic factors in sporadic cretinism . Ann Hum Genet 1954;19:96. 2. Cross HE, Hollander CS, Rimoin DL, et al: Familial agoitrous cretinism accompanied by muscular hypertrophy . Pediatrics 1968;41:413-420. 3. Wilkins L: Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3. Springfield, Ill, Charles C Thomas Publisher, 1965, pp 94-98. 4. Fisher DA, Dussault JH, Foley TP Jr, et al: Screening for congenital hypothyroidism: Results of screening 1 million North American infants . J Pediatr 1979;94:700.Crossref 5. Ainger LE, Kelley VC: Familial athyreotic cretinism: Report of three cases . J Clin Endocrinol 1955;15:469-475.Crossref 6. Greig WR, Henderson AS, Boyle JA, et al: Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child . J Clin Endocrinol 1966;26:1309-131.Crossref 7. Neel JV, Carr EA, Beierwaltes WH, et al: Genetic studies on the congenitally hypothyroid . Pediatrics 1961;27:269-285.
American Journal of Diseases of Children – American Medical Association
Published: Jun 1, 1981
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