Quality Matters – Hematopoietic Stem Cell Transplantation versus Transfusion and Chelation in Thalassemia Major

Objective: To compare quality of life of children with thalassemia major who haveundergone stem cell transplantation with those on regular transfusion. Methods: Thestudy included 40 children who underwent transplantation and 40 children and 20 adults onregular transfusion and iron chelation therapy. The quality of life assessment was doneusing the Pediatric Quality of Life Inventory 4.0 Generic Core Scale. Results: The meantotal summary score, psychosocial summary score and physical score was 92, 91 and92.8, respectively in transplant group and 83, 82.7 and 83.6, respectively in children intransfusion group. The adult group on transfusion showed overall poorer scores of 74.9, 76and 73.9, respectively. The average scores in all domains were significantly (P<0.05) lowerand drop steeply in second decade in transfusion group. Conclusion: Allogeneic stem celltransplantation improves quality of life in thalassemia major.

A two-year follow-up study of 58 patients with postpartum thyroiditis / 中华内分泌代谢杂志

ObjectiveTo investigate the cumulative incidence of persistent hypothyroidism in patients who were diagnosed as postpartum thyroiditis ( PPT),and to determine the factors associated with the development of persistent hypothyroidism in those patients.MethodsThe present study was performed as the continuous study followed by the former epidemiological survey on PPT,in which 58 patients with PPT (35 overt PPT and 23 subclinical PPT) were diagnosed.The 58 patients were followed up at 12th month postpartum,and then for every 6 months until 24 months postpartum.Fasting blood samples were taken for testing serum TSH,thyroid peroxidase antibody ( TPOAb),and thyroglobulin antibody ( TgAb ).Free T3 ( FT3 ),free T4 ( FT4 ),and TSH receptor antibody ( TRAh ) were detected if TSH was abnormal.50 healthy postpartum women were used as control group.ResultsOf the total 58 PPT patients,91,4％ ( n =53 ) were successfully followed.Five patients with overt PPT and 6 patients with subclinical PPT developed persistent hypothyroidism,and the cumulative incidence of persistent hypothyroidism in the studied PPT patients was 20.8％.Among 15 PPT patients who had a classical biphasic course (a thyrotoxic phase followed by a hypothyroid phase),persistent hypothyroidism was seen in 26.7％ (n =4 ).Among 11 PPT patients with hypothyroidism only,persistent hypothyroidism was seen in 63.6％ ( n =7).On the contrary,none of the patients with thyrotoxicosis only had persistent hypothyroidism.All of the patients who developed persistent hypothyrodism had a higher TSH levels than 4.8 mU/L at 6th month postpartum.Before delivery,TSH levels of the patients developed persistent hypothyroidism were significantly higher than those of the patients with transient hypothyroidism,and this was the case at the 12th month postpartum ( all P＜0.01 ).PPT patients maintained a relatively higher rate of thyroid autoantibodies.The positive rate of TPOAb at the 12th,18th,and 24th month postpartum was 56.6％,50.9％,and 52.8％,respectively; and the positive rate of TgAb being 35.8％,30.2％,and 30.2％,respectively.Both the positive rate and titer of TPOAb in patients with overt PPT were higher than those in patients with subclinical PPT at the 18th and 24th month postpartum (P＜0.05).Conclusions 20.8％ patients with PPT developed persistent hypothyroidism at the 24th month postpartum.Whether a patient with PPT would develop persistent hypothyroidism depends on his clinical feature and TSH level.

Diagnostic Re-evaluation of Children with Congenital Hypothyroidism.

Objectives: To investigate the causes of congenital hypothyroidism in children more than 3 years of age and to document the frequency of transient vs permanent hypothyroidism. Design: Hospital based observational study. Setting: Pediatric endocrine clinic of a medical college. Patients: Children over 3 years of age, on treatment for congenital hypothyroidism. Intervention: Thyroid function test (TFT) and thyroid ultrasound was done. Children with agenesis or hemiagenesis in thyroid ultrasound were identified. In children with normal or equivocal thyroid ultrasound, thyroxine was stopped and followed. Children with abnormal TFT on follow up had thyroid scintigraphy with or without potassium perchlorate discharge, after which, thyroid hormone supplement was restarted. Children who remained euthyroid on follow up were labeled as having transient hypothyroidism. Main Outcome Measure: Proportion of children with transient hypothyroidism. Results: Among 36 children studied (20 boys and 16 girls), eighteen (50%) had transient hypothyroidism and fifteen (41.7%) had thyroid agenesis. There was one with hemiagenesis, one with ectopic thyroid and another with dyshormonogenesis (2.8% each). Initial TSH level at the time of diagnosis was higher in permanent hypothyroidism as compared with transient group (83.0 ± 31.6 vs 47.0 ± 33.1 mIU/mL; P= 0.002). Conclusions: Thyroid hormone supplementation could be discontinued in 50% of children diagnosed with congenital hypothyroidism.

Predictors of Transient Hypothyroidism in Neonatal Screening Test / 대한소아내분비학회지

PURPOSE: Congenital hypothyroidism is detected through the neonatal screening test and treated early from neonatal period. Among these patients, however, transient hypothyroidism is included. In this study, we aimed to evaluate the predicting factors of transient hypothyroidism in neonatal screening test. METHODS: We retrospectively reviewed medical records of 40 male and 31 female neonates diagnosed as congenital hypothyroidism by newborn screening from 1996 to 2003. The untreated cases that revealed slightly decreased levels of thyroid hormone on repeated examination and the cases who showed normalized hormone after 2 years of treatment were regarded as transient hypothyroidism. The results of neonatal screening tests and other clinical features of children with transient hypothyroidism were compared to those of children with permanent form. The time to normalization of thyroid hormone levels in the transient hypothyroidism were also reviewed. RESULTS: Among 71 cases of congenital hypothyroidism, 39 cases (54.9%) were transient and 32 cases (45.1%) were permanent hypothyroidism. There were no significant differences in clinical features between two groups, except lower birth weight in the transient group (transient 2.80+/-0.75 kg, permanent 3.22+/-0.57 kg, P=0.02). Free T4 levels were significantly lower and TSH levels were significantly higher in the permanent form than the transient ones (P<0.01). The estimated cut-off point for distinguishing transient hypothyroidism from permanent form was 2.05 ng/dL (sensitivity 54%, specificity 93%) for free T4 and 34 microIU/mL (sensitivity 72%, specificity 87%) for TSH. CONLCUSION: In this study, transient hypothyroidism could be differentiated from permanent hypothyroidism by TSH and free T4 levels of neonatal screening test. Repeated thyroid function tests are thought to be essential to make a diagnosis of not only transient but also permanent hypothyroidism.

Factors Distinguishing between Transient and Permanent Hypothyroidism in Patients Diagnosed as Congenital Hypothyroidism by Newborn Screening / 대한소아내분비학회지

PURPOSE: Since the introduction of newborn screening, the detection rate of transient hypothyroidism has been increased. Therefore, we aimed to reevaluate the prevalences of congenital hypothyroidism according to etiology and to evaluate the clinical characteristics to differentiate between transient and permanent hypothyroidism before L-thyroxine withdrawal to avoid unnecessary prolonged treatment. METHODS: We retrospectively reviewed medical records of 25 male and 46 female patients diagnosed as congenital hypothyroidism by newborn screening from 1992 to 2002. We performed thyroid function test such as T3, TSH and total T4 before 1997, and free T4 from 1997. RESULTS: Since the introduction of newborn screening, the prevalences of permanent congenital and transient hypothyroidism were 53.5% and 46.5%, respectively. Thyroid dysgenesis was more common in females (males 3, females 22, P<0.05). Among 58 patients, who were not confirmed as thyroid dysgenesis at L-thyroxine therapy, the proportion of transient and permanent hypothyroidism were 32 (55.2%) and 26 (44.8%) respectively. There were no significant differences in free T4, total T4, TSH levels at initial diagnosis between transient and permanent hypothyroidism patients. Permanent hypothyroidism patients could not withdraw L-thyroxine during the first 3 years. Among 32 patients with transient hypothyroidism, 30, 23, and 17 patients continued L-thyroxine therapy at 1, 2, and 3 years of age, respectively. The mean duration of L-thyroxine therapy was 26.4+/-11.8 months. The dose of L-thyroxine had been significantly decreased since 6 months of age in the patients with transient hypothyroidism (P<0.05). The patients with thyroid aplasia received the highest dose of L-thyroxine from 6 to 36 months of age (P<0.05). Among 13 patients who were confirmed as thyroid dysgenesis at L-thyroxine therapy, 12 patients were confirmed as permanent hypothyroidism, while one patient, who was diagnosed as thyroid aplasia by thyroid scan, revealed normal thyroid gland and could be ceased thyroid hormone therapy at 3 years of age. CONCLUSION: We could not differentiate between transient and permanent hypothyroidism by free T4, total T4 and TSH levels at the initial diagnosis. We could diagnose as permanent hypothyroidism in patients with thyroid dysgenesis and with higher or appropriate L-thyroxine doses for weight to maintain euthyroid during follow-up. We therefore suggest that diagnostic test maybe done before 3 years of age in some patients who had the histories of suspecting transient hypothyroidism and significantly low L-thyroxine doses for weight.

Characteristics of Transient Hypothyroidism Detected by Neonatal Screening Test

PURPOSE: To help differentiate transient hypothyroidism from congenital hypothyroidism, both of which might be confused initially, the clinical characteristics of transient hypothyroidism were compared to those of permanent ones. METHODS: An analysis of the clinical data, including perinatal history, TFT(thyroid function test), and radionuclide scanning, was performed. The outcome of 18 patients of transient hypothyroidism was also compared to 19 patients of congenital hypothyroidism. RESULTS: Most of the patients were male(male to female ratio was 5 to 1). The majority of patients(10/18) had history of dressing their umbilical stumps with iodine containing disinfectant. They seemed to have higher titers of T3 and lower titer of TSH at initial checking compared to congenital hypothyroidism and mostly showed normal thyroid image at initial scanning using 99mTc. Five patients, whose thyroid functions were normalized in 22-97 days after birth, were followed up without treatment. Thirteen patients were treated with levothyroxine initially, but able to stop treatment with normalized thyroid function test after at least one month of treatment pause when they were 18-46 months old. CONCLUSION: Transient hypothyroidism diagnosed via neonatal screening were found in almost male neonates and had a tendency for milder abnormalities of thyroid function test compared to congenital hypothyroidism and had past history of dressing umbilical stumps in over half of the patients with iodine containing disinfectant.