151/184. congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia. An 11-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dysplasia. He was subsequently found to have epiphyseal dysplasia secondary to congenital hypothyroidism. The radiographic findings in longstanding congenital hypothyroidism and spondyloepiphyseal dysplasia are compared and a possible mechanism for the dysplasia of hypothyroidism is discussed. ( info) |
152/184. Familial unresponsiveness to thyrotropin by autosomal recessive inheritance. Unresponsiveness to TSH has been identified and sufficiently studied in only three patients. We report siblings with this defect as the first documentation of familial occurrence. A 26-yr-old woman was diagnosed with congenital hypothyroidism during infancy. The thyroid was atrophic, and thyroid function tests without T4 replacement showed serum free T4 levels below 3 pmol/L, serum TSH of 125 mU/L, and serum thyroglobulin below 5 mg/L. 123I scintigram showed decreased uptake (5% at 24 h), but normal shape at the correct position in the neck. autoantibodies against thyroglobulin, thyroid peroxidase, and TSH receptor in serum were not detected. The amount of cAMP released into FRTL-5 cell culture in the presence of TSH from the patient was not different from that released by the same amount of TSH from normal subjects, suggesting that TSH bioactivity in our patient was normal. The brother of the patient also had congenital hypothyroidism, and the data on his thyroid function was similar to that for his sister. There was a consanguineous marriage in the parents of the siblings, and the mother of the patients had a normal serum free T4 level, but slightly increased serum TSH and thyroglobulin levels, indicating subclinical hypothyroidism. The possible pathogenesis of TSH unresponsiveness in our patients includes a mutation in the TSH receptor gene, abnormality in transcription-regulating factor, abnormality in GTP-binding protein, and/or inhibition of the action of cAMP. The family history of the patients suggests that the mode of inheritance in TSH unresponsiveness is autosomal recessive. ( info) |
153/184. Case report: lingual thyroid, a cause of neonatal stridor. Stridor implies partial airway obstruction, resulting from intrinsic or extrinsic abnormalities of the upper respiratory tract. In a neonate whose airway is small, soft and easily occluded this may be potentially life threatening. Its immediate diagnosis with prompt therapy is a rewarding challenge. When stridor occurs in a neonate with congenital hypothyroidism, surgically amenable cause of obstruction due to an ectopic thyroid or thyroglossal cyst has to be seriously considered. We report a case of neonatal stridor caused by a lingual thyroid, and discuss the imaging approach. ( info) |
| We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ( info) |
| Every newborn infant should be screened for congenital hypothyroidism before discharge from the nursery. neonatal screening for hypothyroidism was introduced to north america in 1972 and has been demonstrated to be cost effective in the prevention of neurological damage in children. Interpretation of diagnostic test results from such programs is based on understanding the physiology of the thyroid gland and recognition that neonatal hypothyroidism primarily stems from an embryological disorder of thyroid development rather than central causes involving the hypothalamic-pituitary axis. early diagnosis of hypothyroidism is dependent on proper timing and collection of blood samples and an efficient screening program reporting accurate results. A thorough maternal and family history in conjunction with clinical signs and symptoms of hypothyroidism, biochemical tests, and radiological findings should be used to rapidly establish the diagnosis. Early detection and treatment with thyroxine normalizes skeletal maturation, physical growth, cognitive functioning, and motor development of affected newborns. nurses play an important role in identification, management, and supportive care of infants with hypothyroidism so that maximal potential is achieved. ( info) |
156/184. Congenital nephrosis in association with hypothyroidism and hypoadrenocorticism. Adrenal abnormalities are rarely recognized in association with the nephrotic syndrome. This report describes the hospital course of an 11-week-old child with congenital nephrotic syndrome secondary to diffuse mesangial sclerosis, in addition to hypothyroidism and hypoadrenocorticism. ( info) |
157/184. Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. Cutis marmorata telangiectatica congenita is an uncommon, generally congenital, cutaneous condition. The major skin findings are persistent, fixed cutis marmorata, telangiectasia, and phlebectasia; often, there is associated skin atrophy and ulceration as well. Significantly, two-thirds of patients have other congenital anomalies, although often minor ones. We report a series of eight children with cutis marmorata telangiectatica congenita, including one with associated congenital hypothyroidism, a relationship that has never before been noted. ( info) |
158/184. magnetic resonance imaging of brain and the neuromotor disorder in endemic cretinism. Neurological endemic cretinism, resulting from severe iodine deficiency, is characterized by mental deficiency, deafmutism, and a spastic-rigid motor disorder. Its neuropathology and pathophysiology have been investigated very little. We report the clinical and magnetic resonance imaging brain scan findings of 3 adult Chinese cretins. All show an apparent magnetic resonance imaging abnormality in the globus pallidus and substantia nigra, with hyperintensity on T1-weighted images and hypointensity on T2-weighted images. The motor abnormality, characterized by truncal and proximal limb-girdle rigidity and spasticity, with relative sparing of the hands and feet, is analogous to other extrapyramidal disorders. Endemic cretinism is a unique form of cerebral palsy of potential interest for students of human neuromotor development. ( info) |
159/184. congenital hypothyroidism with delayed rise in serum TSH missed on newborn screening. We report on a female patient with congenital hypothyroidism (CH) missed on a newborn screening test. She is now 10 years old with retarded development. The patient was born premature at 34 weeks of gestation with birth-weight of 1515 g, and was judged to be normal in the screening programme of Niigata Prefecture. However, she gradually suffered from poor weight gain and retarded development with stridor at breathing. serum thyroid stimulating hormone (TSH) levels were rechecked and showed high values with normal T3 and T4 levels. She was referred to our hospital at the age of 13 months. She was diagnosed as having CH (ectopic thyroid) with a delayed rise in blood TSH concentration, probably due to the prematurity of the hypothalamic-pituitary-thyroid axis. L-thyroxine therapy brought a decline in TSH levels with partial improvement of her symptoms. Regardless of the result of newborn screening, infants with elevated serum TSH levels should be carefully examined for possible CH, even when T3, T4 and free T4 values are in the normal range. ( info) |
160/184. Defective organification of iodide causing congenital goitrous hypothyroidism. A 26-yr-old Japanese woman with congenital goitrous hypo-thyroidism and sensorineural deafness underwent a thyroidectomy. Examination of the thyroid gland revealed characteristic features of multinodular goiter. The T3 and T4 content in thyroglobulin (Tg) were 0.03 and 0.02 mol/mol Tg, respectively. Iodide incorporation into Tg, using slices of the thyroid tissue, revealed that iodide organification of thyroid tissue from our patient was markedly lower than that of normal controls. Then, guaiacol and iodide oxidation activities of thyroid peroxidase (TPO) in our patient's thyroid tissue were lower than those of normal controls (guaiacol assay: 1.92 vs. 30.0 /- 5.7 mGU/mg protein; iodide assay: 1.1 vs. 6.6 /- 2.8 mIU/mg protein). Lineweaver-Burk plot analysis of the oxidation rates of guaiacol and iodide indicated that this patient's TPO had a defect in the binding of guaiacol and iodide, but the coupling activity of the patient's TPO was not decreased compared with those of two normal thyroids. In this case and in control subjects, Nothern gel analysis of TPO messenger rna from unstimulated and TSH-stimulated thyroid cells revealed a 3.2 kilobase species in the former and four distinct messenger rna species of 4.0, 3.2, 2.1, and 1.7 kilobases in the latter. Western blot analysis of TPOs obtained from this patient and from control subjects identified the same 107 kDa protein, using antimicrosomal antibody-positive serum. We analyzed the coding sequence in the patient's TPO gene by using polymerase chain reaction technique. A single point mutation of G-->C at 1265 base pair was detected only in the TPO gene, but this point mutation does not alter the amino acid residue. It is possible that posttranslational modification such as abnormal glycosylation may occur in the TPO molecules. Furthermore, it is possible that there are differences in the tertiary structures of the TPO molecules between our patient and normal subjects. The above abnormalities of TPO molecules may play an important role in our patient's dyshormonogenesis. ( info) |