PURPOSE: It is important to diagnose and treat newborn patients with congenital hypothyroidism as soon as possible because of neurodevelopmental outcome. If we can detect more severe forms of congenital hypothyroidism with neonatal screening test, the results of treatment will improve. METHODS: Sixty-four term infants whose TSH levels in neonatal screening test had been higher than 20 micro-International Unit were recalled. Their serum levels of T3, T4, TSH and thyroid scans were checked. They were divided into two groups according to the results, in which T group had transient thyroid disease and P group had permanent congenital hypothyroidism. The TSH levels in neonatal screening test between the two groups were compared and correlated with T3, T4 and TSH levels in their serum. RESULTS: The number of patients of T and P groups were 43 and 13 respectively. The mean TSH level of both group in neonatal screening test was 28.6 micro-International Unit/mL and 55.7 micro-International Unit/mL respectively. The mean TSH level in neonatal screening test is significantly higher in P than T group(P<0.05). If we choose 48 micro-International Unit/mL as a cutoff value, the sensitivity of detecting the P group is 77% and the specificity is 100%. The TSH levels in neonatal screening test had a positive correlation with the serum TSH levels and a negative correlation with the serum T4 levels(r=0.56 P<0.01, r=-0.53 P<0.01). CONCLUSION: If the TSH level in neonatal screening test is greater than 48 micro-International Unit/mL, there is a greater possibility of the permanent and severe congenital hypothyroidism. So we should try to diagnose and treat them more quickly.
Congenital Hypothyroidism* ; Humans ; Infant ; Infant, Newborn ; Neonatal Screening* ; Prognosis* ; Sensitivity and Specificity ; Thyroid Diseases ; Thyroid Gland

In the abstract, case description and figure 2, the nomenclature of two mutations was misprinted because of misreading the cDNA nucleotide sequences.

PURPOSE: The pharmacologic effect of atropine on HPS can be considered to control pyloric muscle spasm. Therefore, we studied the effects of intravenous atropine sulfate on the clinical course of HPS, and periodically observed the ultrasonographic appearance of the pyloric muscles after atropine treatment. METHODS:From April 1998 to May 1999, 14 infants who were diagnosed with HPS were treated with intravenous atropine sulfate. Intravenous atropine sulfate was administered at an initial dose of 0.04mg/kg/day, which was divided into 8 equal doses. The daily dose was increased by 0.01 mg/kg/day until vomiting was controlled for an entire day while infants received unrestricted oral feeding. Ultrasonographic examinations were performed during hospitalization and repeated at least every 2 months until normalization of pyloric muscles was confirmed. RESULTS: Intravenous atropine was effective in 12 of 14 infants with HPS and the conditions of 9 of them improved. Two infants who were not free from vomiting despite a week of intravenous atropine sulfate treatment underwent pyloromyotomy. A series of ultrasonographic examinations were done after vomiting had improved with intravenous atropine sulfate. The ultrasonographic findings showed good passage of gastric contents through pyloric canals despite thickening of the pyloric muscles. CONCLUSION: Intravenous administration of atropine sulfate is an effective therapy for HPS and can be an alternative to pyloromyotomy. (J Korean Pediatr Soc 2000;43:763-768)
Administration, Intravenous ; Atropine* ; Hospitalization ; Humans ; Infant ; Muscles ; Pyloric Stenosis, Hypertrophic* ; Spasm ; Vomiting

PURPOSE: Congenital hypothyroidism(CH) is not uncommon disorder, leading to retardation of mental development and growth, if not treated early. The aim of this study is to determine the factors influencing IQ of children with CH, diagnosed after 1 month of life. METHODS : Thirteen children with CH were included. They had intelligence test by KEDI-WISC(Korean Educational Development Institute-Wechsler Intelligence Scale for Children) and their medical records were reviewed. Their T4, TSH, height, age at diagnosis were investigated retrospectively. To evaluate the influence of T4, TSH, height, age at diagnosis on IQ, children were divided into three groups ; athyroid(n=8), sublingual(n=3), inborn errors of thyroid hormone synthesis(n=2) according to the result of thyroid scan. Results : In athyroid group, IQ closely correlated to VIQ and PIQ and had close relationship to T4 at diagnosis(.p=0.0086, r=0.8427), but no relation to TSH. There was no difference in height, T4 TSH, and IQ between athyroid and sublingual group. CONCLUSION : The results suggest that intellectual function in children with CH, diagnosed after 1 month of life depends on serum level of T4 at diagnosis. Further study is mandatory to elucidate the relationship between final IQ and factors, including thyroid function, age at diagnosis, adequacy of treatment, etc.
Child* ; Congenital Hypothyroidism* ; Diagnosis ; Growth and Development ; Humans ; Intelligence ; Intelligence Tests ; Medical Records ; Retrospective Studies ; Thyroid Gland

The roles of estrogen and its receptors are important for control of puberty, pubertal growth spurt, epiphyseal fusion of long bone, and accretion of bone mineral content in adolescent. But, the mechanism of functions of them is not fully understood. The female mice with tissue-specific knock out (KO) of estrogen receptor (ER) were generated to determine the roles of them in the growth and reproductive axis. The serum levels of growth hormone (GH) were decreased but the body lengths were not in somatotrope-specific ERalpha KO mice compared with wild ones. The onset of puberty was delayed in gonadotropin releasing hormone (GnRH) neuron-specific ERalpha KO mice. The reproductive axis was disturbed in gonadotrope-specific ERalpha KO mice. Additional studies are required to evaluate the various roles of estrogen and its receptors in growth and pubertal development. Future works will focus on the phenomes of tissue-specific KO of ERbeta or aromatase in mice, other animal models, and in vitro or vivo studies of ER agonists or antagonists.
Adolescent ; Animals ; Aromatase ; Axis, Cervical Vertebra ; Bone Density ; Estrogen Receptor alpha ; Estrogen Receptor beta ; Estrogens ; Female ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Humans ; Mice ; Models, Animal ; Puberty

PURPOSE: A lot of complementary therapies to increase final adult heights have been used in Korean children. We are going to investigate the effects of herbal medicines on predicted adult heights of children. METHODS: Subjects were 29 children (13 boys & 16 girls) who visited to the growth clinic of the department of pediatrics in Kyunghee East-West Neo medical center from June 1st 2006 to June 30th 2008 and treated with herbal medicines and followed up over 1 year. At first visit, their mid-parental target height standard deviation score (MPHSDS), bone age, height SDS, height SDS adjusted for their bone ages (BAHSDS) and predicted adult height SDS (PAHSDS) were checked. After 1 year of complementary therapy, they were checked those parameters again. The differences of their MPHSDS, BAHSDS and PAHSDS before and after the therapy were compared with Wilcoxon signed rank test using SPSS 12.0. RESULTS: The mean changes in BAHSDS after therapy in boys and girls were -0.17 and -0.05. The mean changes in predicted adult height SDS after therapy in boys and girls were -0.28 and 0.03. There were no significant differences between BAHSDS and PAHSDS before and after the therapy. CONCLUSION: There is little evidence that the use of herbal medicines to improve the final adult heights of the children was effective. It is necessary to evaluate the long-term effects or the side effects of these therapies on final adult heights in more children.
Adult ; Body Height ; Child ; Complementary Therapies ; Herbal Medicine ; Humans ; Pediatrics

PURPOSE: There has been considerable disagreement regarding the most appropriate dosage of gonadotropin-releasing hormone agonist in cases of central precocious puberty. The aim of this study was to determine the appropriate dosage for suppression of the puberty in girls with central precocious or early puberty. METHODS: Twenty-two girls with early puberty were randomly subjected to 3 types of dosages of leuprolide acetate for at least 6 months. The number of cases in groups 1, 2, and 3 were 7, 7, and 8, and dosages were 70, 90, and 110 microgram/ kg/-month, respectively. Height, weight, bone age, Tanner stage of breast development, and serum levels of LH, FSH, estradiol, and progesterone were measured before treatment and after 6 months of treatment. The number of cases of puberty suppression was compared using a modified puberty suppression score with a nonparametric chi-square test. RESULTS: There were no significant differences of chronologic and bone ages among the groups. There was a significant decrease in height SDS gain after 6 months in group 3 (P<0.05) compared with groups 1 and 2. Serum levels of LH, FSH, estradiol and progesterone were all significantly decreased after treatment in all 3 groups (P<0.05). The number of cases of puberty suppression in each group were 4 (57%), 5 (71%), and 8 (100%). There was a significantly increased proportion of suppression of puberty in group 3 (P<0.05). CONCLUSION: It was necessary to use a higher dose of gonadotropin-releasing hormone agonist to suppress early puberty in girls; however further longitudinal study will be needed for their prognosis of final adult height.
Adult ; Breast ; Estradiol ; Gonadotropin-Releasing Hormone ; Humans ; Leuprolide ; Longitudinal Studies ; Progesterone ; Prognosis ; Puberty ; Puberty, Precocious

The complex networks of nutritional, cellular, paracrine, and endocrine factors are closely related with pubertal growth and epiphyseal fusion. Important influencing factors include chondrocyte differentiation capacity, multiple molecular pathways active in the growth plate, and growth hormone-insulin-like growth factor-I axis activation and epiphyseal fusion through estrogen and its receptors. However, the exact mechanisms of these phenomena are still unclear. A better understanding of the detailed processes involved in the pubertal growth spurt and growth plate closure in longitudinal bone growth will help us develop methods to efficiently promote pubertal growth and delay epiphyseal fusion with fewer adverse effects.
Adolescent ; Axis ; Bone Development ; Chondrocytes ; Estrogens ; Growth Plate ; Humans ; Puberty

Berardinelli lipodystrophy syndrome is a rare autosomal recessive disorder, characterized by loss of body fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, hyperlipidemia, insulin resistant diabetes, and elevated metabolic rate. The mechanism(s) responsible for these abnormalities is not known. We report a forteen-month old girl with Berardinelli Lipodystriphy Syndrome, who had signs above mentioned, with a brief review and its related literatures.
Acanthosis Nigricans ; Adipose Tissue ; Female ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hypertrophy ; Insulin ; Lipodystrophy*

The incidence of idiopathic precocious puberty is rapidly increasing in Korea. The most common medication used for treatment is a gonadotropin releasing hormone agonist. However, there is some debate regarding the indication and timing of treatment, and the dosage of the medication, because there are many factors that can affect growth in children after delaying puberty. Also, there are new medications that can potentially delay the puberty with children, for example, gonadotropin releasing hormone antagonists and aromatase inhibitors which require extensive further study.
Aromatase Inhibitors ; Child ; Gonadotropin-Releasing Hormone ; Humans ; Incidence ; Korea ; Puberty ; Puberty, Precocious