In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create problems in babies, as the transplacental passage of maternal TSB Ab can cause a rare type of hypothyroidism in the infant. Prompt levothyroxine replacement for the baby starting immediately after birth is important. We describe a congenital hypothyroid baby born to a hypothyroid mother who was not aware of the cause of her hypothyroid condition, which turned out to be associated with the expression of TSB Ab. This cause was confirmed in both the infant and mother using a series of thyroid function tests and measurements of autoantibody levels, including TSB Ab. During periodic follow-up, the TSB Ab and thyroid stimulating hormone receptor antibody titers became negative in the baby at 8 months of age, but remained positive in the mother. Evaluation of hypothyroidism and its cause in mothers during pregnancy is important for both maternal and child health.
Adult ; Child Health ; Congenital Hypothyroidism* ; Follow-Up Studies ; Humans ; Hypothyroidism ; Infant ; Mothers* ; Parturition ; Placental Circulation ; Pregnancy ; Receptors, Thyrotropin ; Thyroid Function Tests ; Thyroid Gland* ; Thyroxine

In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create problems in babies, as the transplacental passage of maternal TSB Ab can cause a rare type of hypothyroidism in the infant. Prompt levothyroxine replacement for the baby starting immediately after birth is important. We describe a congenital hypothyroid baby born to a hypothyroid mother who was not aware of the cause of her hypothyroid condition, which turned out to be associated with the expression of TSB Ab. This cause was confirmed in both the infant and mother using a series of thyroid function tests and measurements of autoantibody levels, including TSB Ab. During periodic follow-up, the TSB Ab and thyroid stimulating hormone receptor antibody titers became negative in the baby at 8 months of age, but remained positive in the mother. Evaluation of hypothyroidism and its cause in mothers during pregnancy is important for both maternal and child health.
Adult ; Child Health ; Congenital Hypothyroidism* ; Follow-Up Studies ; Humans ; Hypothyroidism ; Infant ; Mothers* ; Parturition ; Placental Circulation ; Pregnancy ; Receptors, Thyrotropin ; Thyroid Function Tests ; Thyroid Gland* ; Thyroxine

PURPOSE: Each ethnic group has a unique life style, including diets. Life style affects bowel movement. The aim of this study is to describe the results of colon transit time (CTT) tests in Korean children who had chronic functional constipation based on highly refined data. METHODS: One hundred ninety (86 males) out of 415 children who performed a CTT test under the diagnosis of chronic constipation according to Rome III criteria at Konkuk University Medical Center from January 2006 through March 2015 were enrolled in this study. Two hundreds twenty-five children were excluded on the basis of CTT test result, defecation diary, and clinical setting. Shapiro-Wilk and Mann-Whitney U, and chi-square tests were used for statistical analysis. RESULTS: The median value and interquartile range (IQR) of CTT was 54 (37.5) hours in Encopresis group, and those in non-encopresis group was 40.2 (27.9) hours (p<0.001). The frequency of subtype between non-encopresis group and encopresis was statistically significant (p=0.002). The non-encopresis group (n=154, 81.1%) was divided into normal transit subgroup (n=84, 54.5%; median value and IQR of CTT=26.4 [9.6] hours), outlet obstruction subgroup (n=18, 11.7%; 62.4 [15.6] hours), and slow transit subgroup (n=52, 33.8%; 54.6 [21.0] hours]. The encopresis group (n=36, 18.9%) was divided into normal transit subgroup (n=8, 22.2%; median value and IQR of CTT=32.4 [9.9] hours), outlet obstruction subgroup (n=8, 22.2%; 67.8 [34.8] hours), and slow transit subgroup (n=20, 55.6%; 59.4 [62.7]hours). CONCLUSION: This study provided the basic pattern and value of the CTT test in Korean children with chronic constipation.
Academic Medical Centers ; Child* ; Colon* ; Constipation* ; Defecation ; Diagnosis ; Diet ; Encopresis ; Ethnic Groups ; Humans ; Korea ; Life Style

PURPOSE: To evaluate the correlation between colon transit time (CTT) test value and initial maintenance dose of polyethylene glycol (PEG) 4000 or lactulose. METHODS: Of 415 children with chronic functional constipation, 190 were enrolled based on exclusion criteria using the CTT test, defecation diary, and clinical chart. The CTT test was performed with prior disimpaction. The laxative dose for maintenance was determined on the basis of the defecation diary and clinical chart. The Shapiro-Wilk test and Pearson's and Spearman's correlations were used for statistical analysis. RESULTS: The overall group median value and interquartile range of the CTT test was 43.8 (31.8) hours. The average PEG 4000 dose for maintenance in the overall group was 0.68±0.18 g/kg/d; according to age, the dose was 0.73±0.16 g/kg/d (<8 years), 0.53±0.12 g/kg/d (8 to <12 years), and 0.36±0.05 g/kg/d (12 to 15 years). The dose of lactulose was 1.99±0.43 mL/kg/d (<8 years) or 1.26±0.25 mL/kg/d (8 to <12 years). There was no significant correlation between CTT test value and initial dose of laxative, irrespective of the subgroup (encopresis, abnormal CTT test subtype) for either laxative. Even in the largest group (overall, n=109, younger than 8 years and on PEG 4000), the correlation was weak (Pearson's correlation coefficient [R]=0.268, p=0.005). Within the abnormal transit group, subgroup (n=73, younger than 8 years and on PEG 4000) correlation was weak (R=0.267, p=0.022). CONCLUSION: CTT test value cannot predict the initial maintenance dose of PEG 4000 or lactulose with linear correlation.
Child* ; Colon* ; Constipation* ; Defecation ; Humans ; Lactulose ; Laxatives ; Polyethylene Glycols

Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea. This report will contribute towards expanding the knowledge on the mutation spectrum of the TAZ gene in BTHS.
Barth Syndrome* ; Cardiolipins ; Cardiomyopathies ; Failure to Thrive ; Humans ; Infant ; Korea ; Male ; Muscular Diseases ; Neutropenia