Thyroid function in beta-thalassemic children receiving hypertransfusions with suboptimal iron-chelating therapy.

A cross-sectional study of thyroid function, free thyroxine (FT) and thyrotropin (TSH) concentrations, was carried out in 51 transfusion-dependent beta-thalassemic patients receiving suboptimal iron-chelating therapy. Nine patients had normal FT4 levels with elevated TSH levels (5.9-15.6 mLU/L), consistent with the diagnosis of compensated primary hypothyroidism and giving a prevalence of abnormal thyroid function of 17.6%. All patients with abnormal thyroid function had negative thyroid antibodies. No particular risk factor for abnormal thyroid function could be identified. Of the nine patients with compensated primary hypothyroidism, one patient showed a further increase in TSH level after 1 year of follow-up. The results of the present study emphasize the importance of thyroid function monitoring in hypertransfused beta-thalassemic patients.

Growth pattern of childhood thyrotoxicosis: longitudinal follow-up to final height.

OBJECTIVE: To study the growth pattern of children affected with thyrotoxicosis. MATERIAL AND METHOD: A retrospective study of growth data of 40 patients with thyrotoxicosis diagnosed at prepuberty or at early puberty was conducted. All patients were evaluated for height and weight every 3-6 months. Height and weight were transformed to standard deviation score (SDS) to account for differences of age and sex. RESULTS: At the time of diagnosis, the patients were slightly underweight for height (weight SDS -0.27 +/- 1.24, height SDS -0.06 +/- 1.26). After 1 year of treatment, the average weight gain of the patients was 4.9 +/- 3.1 kg, resulting in becoming relatively overweight for height (weight SDS +0. 32 +/- 1.42, height SDS +0.02 +/- 1.32). At the time of reaching their final height, the patients had an appropriate weight for height (weight SDS +0.06 +/- 0.21, height SDS -0.04 +/- 1.01). The average final height SDS of the patients was -0.04 +/- 1.01. This was at the average of the general population, but was +0.57 +/- 0.48 SDS or +2.85 +/- 1.0 cm greater than their target height (p < 0.01). CONCLUSION: Growth of patients with thyrotoxicosis showed the same pattern as in the general population. The final height of thyrotoxicosis patients was averagely +0.57 SDS or +2.85 cm greater than their genetic potential. This could be from the result of secular trend in the general population rather than being the effect of thyrotoxicosis.

Thyrotoxicosis in children: treatment and outcome.

OBJECTIVES: To study the treatment modalities and the outcome of treatments of children with thyrotoxicosis or Graves' disease. MATERIAL AND METHOD: A retrospective study of 56 patients diagnosed with thyrotoxicosis from January 1992 to December 2004 was conducted. There were 44 girls and 12 boys (female to male ratio 3.7:1). The average age at diagnosis was 11.9 +/- 3.4 years. RESULTS: All patients were initially treated with antithyroid drugs, either propylthiouracil (n = 53) or methimazole (n = 3). All patients achieved euthyroidism within 8.4 +/- 3.3 weeks. Eleven patients are still on the treatment, and 45 patients have completed the treatment. Of these 45 patients, 38 (84.4%) remitted after antithyroid drug treatment of an average duration of 37.4 +/- 16.5 months (range 12-90), 4 patients (8.9%) chose radioactive iodine treatment and three patients (6.7%) underwent thyroidectomy. Of the 38 patients remitted with antithyroid drugs, eleven (28.9%) relapsed within 4-24 months. The relapsed patients remitted with a second course of antithyroid drugs in three patients, underwent radioactive iodine in seven patients, and thyroidectomy in one patient. Therefore, of the total 45 patients who had completed the treatment, 30 patients (66.7%) remitted with antithyroid drugs, eleven patients (24.4%) received radioactive iodine, and four patients (8.9%) underwent thyroidectomy. Using stepwise multivariate logistic regression, the authors could not identify any factors (including age, gender, family history of thyroid diseases, size of goiter, level of free T4, dosage and duration of antithyroid drugs) that would predict the remission of thyrotoxicosis with antithyroid drugs. CONCLUSION: Antithyroid drugs should remain the first-line therapy for treatment of thyrotoxicosis in children with a remission rate of 66.7%. The patients who are noncompliant or relapse after treatment with antithyroid drugs should be treated with radioactive iodine.

A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X and loss of the entire TA domain. This result further supports that SOX9 is the only gene, discovered to date, responsible for CD across different populations and that the TA domain is important to the function of the normal SOX9.

Clinical abnormalities, intervention program, and school attendance of Down syndrome children in southern Thailand.

BACKGROUND: Down syndrome is the most common chromosomal abnormality with an incidence of 1:700 livebirths. In southern Thailand, most Down syndrome patients are referred to Songklanagarind Hospital for surgical, medical treatment and/or stimulation intervention. OBJECTIVE: To study the clinical features and school attendance of Down syndrome children. MATERIAL AND METHOD: A total of 295 Down syndrome children attended Songklanagarind Hospital. The clinical features of Down syndrome, percentage of children receiving the stimulation intervention program, and attending school were studied. RESULTS: Congenital heart disease was found in 38.6%, gastrointestinal anomalies 16.9%, hematologic malignancy 6.1%, and thyroid disorders 11.4%. The mortality rate of Down syndrome children was 13.2%. Most children (65.6%) received the early stimulation, but only 38.9% attended the speech intervention program within the first 2 years of life. Of the total 109 Down syndrome children aged over 5 years that are still being followed, only 74 (67.9%) attended school. The school attendance was correlated with the family income, but not correlated with the level of maternal or paternal education. CONCLUSION : Congenital heart disease and gastrointestinal anomalies are commonly found in Down syndrome children. Most children received an early intervention program, but only 38.9% received speech intervention. In children aged >5 years, only 68% attended school, and school attendance was correlated with the family income.

Etiologies of central diabetes insipidus in children : 15 years experience in Songklanagarind hospital, Thailand.

Central diabetes insipidus (DI) is a rare disease in children. The authors retrospectively reviewed the records of children with central DI identified at Songklanagarind Hospital from 1985 to 2000. Of the total 29 patients identified, 16 patients were males and 13 were females. All patients received computed tomography or magnetic resonance imaging of the brain to differentiate the etiologies of central DI. The median age at diagnosis was 6.6 years (range 1.5-14.9). The etiologies of central DI were intracranial tumors in 7 patients (24.1%), histiocytosis in 3 patients (10.3%), septooptic dysplasia in 1 patient (3.5%), empty-sella syndrome in 1 patient (3.5%), pituitary abscess in 1 patient (3.5%), and idiopathic in 16 patients (55.1%). All patients with idiopathic central DI were followed-up for a median duration of 4.5 years (range 1.3-15.5). Three of 16 patients (18.8%) were found to have intracranial tumors at 1.3, 2.3, and 3.5 years of follow-up. It was also observed that the patients whose age at presentation was less than 5 years (histiocytosis was excluded) were less likely to have intracranial tumors than those older than 5 years, (0% vs 55%), with significant statistical difference (p<0.01). It is concluded that: 1) the common etiologies of central DI are intracranial tumor and idiopathic, 2) patients initially diagnosed with idiopathic central DI need to have long-term follow-up by magnetic resonance imaging to identify any occult intracerebral tumor.