No abstract available.
Turner Syndrome*

PURPOSE:Chronic autoimmune thyroiditis is the most common thyroid disease in children and adolescents, and also is the most common cause of hypothyroidism in children and adolescents. We studied the clinical manifestations and natural courses of chronic autoimmune thyroiditis in children and adolescents. METHODS:We analyzed retrospectively twenty one children and adolescents who were diagnosed as chronic autoimmune thyroiditis before 15 years of age. The diagnoses were made from July 1997 to February 2004 at Ajou Univesity Hospital. We reviewed the clinical manifestations and thyroid functions of these patients. RESULTS:Nineteen patients were female and two were male. The mean age at diagnosis was 9.95+/-3.1 years, the mean duration of follow up was 23.52+/-22.98 months. At diagnosis, the most common chief complaint was goiter (15 patients/21 patients) and the others were short stature, easy fatigue, cardiac murmur and weight loss. Eighteen patients had goiters at diagnosis. Four had familial history of thyroid disease, Three of them had maternal history of thyroid disease and one had paternal history of thyroid disease. At diagnosis, Seven patients were euthyroid and four patients were hyperthyroid, eighteen patients had antithyroglobulin antibody, seventeen patients had antimicrosomal antibody, fourteen patients had both of them. At last follow-up, eight patients were euthyroid and ten patients were hypothyroid, three patients were hyperthyroid. CONCLUSION: Chronic autoimmune thyroiditis in children and adolescents can have the various important influences on the metabolism including the growth. The clinical manifestations and thyroid functions should be monitored in children and adolescents with chronic autoimmune thyroiditis.
Adolescent* ; Child* ; Diagnosis ; Fatigue ; Female ; Follow-Up Studies ; Goiter ; Heart Murmurs ; Humans ; Hypothyroidism ; Male ; Metabolism ; Retrospective Studies ; Thyroid Diseases ; Thyroid Gland ; Thyroiditis, Autoimmune* ; Weight Loss

PURPOSE:Mutations of the PROP1 (Prophet of PIT1) gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of growth hormone (GH), thyroid stimulating hormone (TSH), luteinizing hormone (LH)/follicle stimulating hormone (FSH), prolactin (PRL) and adrenocorticotropic hormone (ACTH). We studied the PROP1 mutations in Korean children with hypopituitarism. METHODS:Twelve patients with congenital hypopituitarism were recruited from the Ajou University Hospital, Korea. The pituitary phenotype ranged from isolated growth hormone deficiency (IGHD) to CPHD. Clinical data, including endocrine and neuroradiological data were obtained from the medical records, and the DNA was collected and screened for mutations within PROP1 using polymerase chain reaction (PCR). The PCR products were sequenced directly. RESULTS:Nine patients had abnormal pituitary gland and three patients showed normal pituitary gland in magnetic resonance imaging (MRI). Endocrinologically, seven patients had IGHD and five had CPHD. Three of CPHD had GHD and hypogonadotrophic hypogonadism and the other two had GHD, central hypothyroidism, and ACTH deficiency. We identified no mutations in the PROP1 gene. However, three known polymorphisms were identified: The 27T->C (Ala9Ala) and the associated IVS1+3A->G in exon 1 were found in 25% of patient alleles sequenced. The 424G->A (Ala142Thr) in exon 3 change was identified in 4% of those sequenced. CONCLUSION:This study corresponds to the previous reports that PROP1 mutations are rare in sporadic cases of CPHD. The low mutation frequency in Korean patients may be due to ethnic-specificity or other candidate genes causing this disease. It is necessary to study PROP1 gene and the involved genes in more Korean patients.
Adrenocorticotropic Hormone ; Alleles ; Child ; DNA ; Exons ; Growth Hormone ; Humans ; Hypogonadism ; Hypopituitarism ; Hypothyroidism ; Korea ; Luteinizing Hormone ; Magnetic Resonance Imaging ; Medical Records ; Mutation Rate ; Phenotype ; Pituitary Gland ; Polymerase Chain Reaction ; Prolactin ; Thyrotropin

Human puberty is a complex, coordinated biological process with multiple levels of regulations. The timing of puberty varies greatly in children and is influenced by both environmental and genetic factors. The key genes of pubertal onset, KISS1, GPR54, GNRH1 and GNRHR, may be major causal factors underlying gonadotropin-releasing hormone-dependent precocious puberty (GDPP). Two gain-of-function mutations in KISS1 and GPR54 have been identified recently as genetic causes of GDPP. GNRH1 and GNRHR are also gene candidates for GDPP; however no mutations have been identified in these genes. Presently potential genetic causes like LIN28B continues to appear; many areas of research await exploration in this context. In this review, I focus primarily on the genetic causes of GDPP.
Biological Processes ; Child ; Gonadotropins ; Humans ; Puberty ; Puberty, Precocious ; Social Control, Formal

PURPOSE: Antithyroid drug treatment is usually recommended as the initial treatment for children with Graves' disease. However, achieving remission with medical therapy usually requires many years of treatment, the risk for adverse reactions is relatively high and relapse is common after discontinuation of medication. There is therefore a debate about how Graves' disease should be treated in children. The aim of this study was to identify predictors of remission during 2 years from quitting of antithyroid drug. METHODS: We retrospectively studied children who had been treated for Graves' disease with antithyroid medication. We compared the children who achieved remission after two years with those who had persistent disease, to determine the variables associated with remission. RESULTS: 41 patients were enrolled, of whom five (12.2%) achieved remission and the rest (87.8%) could not achieve remission until the last visit. There were no significant differences in T3, free T4, antimicrosomal antibody (AMA), or thyroid stimulating hormone (TSH)-binding inhibitory immunoglobulin (TBII) between the two groups at presentation. However, the remission group had a significantly higher titer of TSH (P = 0.04) and a significantly lower titer of antithyroglobulin antibody (ATA) (P = 0.01) than the non-remission group at presentation. The non-remission group had higher ATA concentrations 3 months after treatment with antithyroid medication than the remission group did (P = 0.02). CONCLUSION: TSH and ATA concentrations at presentation can be used to stratify patients according to the likelihood of remission during 2 years from quitting of antithyroid drug.
Child ; Male ; Female ; Humans

No abstract available.
Humans ; Infant, Newborn* ; Mothers*

No abstract available.
Hepatitis B* ; Hepatitis*

The authors performed prospectively the transcranial Doppler monitoring of bilateral anterior and middle cerebral arteries in 15 patients with ruptured cerebral aneurysm. The entry criteria for the study were confined to the patients who were admitted within 3 days after bleeding and had clinical grades of I, II, or III. The mean frequency shifts of bilateral anterior and middle cerebral arteries were increased immediately after ictus and showed continous further elevation between the 3rd and 8th rupture days. After that, they normalized slowly. The increase of frequency shift preceded clinical ischemic symptoms and an early steep increase of frequency shift was correlated to a high chance for suffering delayed ischemic deficits. The thick clots in subarachnoid cisterns shown on CT scans taken within the third rupture day were correlated well to the severe increase of frequency shifts. The aggressive treatment was done on asymptomatic patients who showed relatively rapid increase of frequency shifts, and they had shown no or trasient mild ischemic symptoms.
Hemorrhage ; Humans ; Intracranial Aneurysm* ; Middle Cerebral Artery ; Prospective Studies ; Rupture ; Tomography, X-Ray Computed

PURPOSE: The purpose of this study was to describe the clinical outcome after pancreatcetmy and its relationship with pathological appearances and clinical features in patients with persistent hyperinsulinemic hypoglycemia of infancy(PHHI). METHODS: Medical records of 10 patients(9 males and 1 female, mean age:40.4+/-1.5 months) who were diagnosed as PHHI and underwent pancreatectomy from 1988 to 2000 were reviewed. Clincal and biochemical data were recorded. Subjects were classified arbitrarily into early-onset or late-onset group according to age of onset. Pathologic appearance of pancreas was divided into 2 forms:diffuse or focal. The former had a focal pancreatic adenomatous hyperplasia and the latter was characterized by increased number of betacells with similar distribution seen in normal neonates. RESULTS: One patient had focal, and nine had diffuse lesions. After near-total pancreatectomy, 4 patients(40.0%) showed complete response, 4(40.0%) had persistent hypoglycemia, and 2(20.0%) developed diabetes mellitus. As neurological sequelae, 6 patients(60.0%) had persistent seizures, and 6(60.0%) had delayed motor and speech development. No clinical or biochemical factors related to postoperative outcome were found. CONCLUSION: This data indicate that early diagnosis of patients who present with hypoglycemic symptoms in infancy, especially early in life, and development of more effective therapy are warranted, because there is no clinical or biochemical factor predicting final outcome after near-total pancreatectomy and only 40% of patients with PHHI remained euglycemic after surgery with possible severe neurological sequelae.
Age of Onset ; Congenital Hyperinsulinism* ; Diabetes Mellitus ; Early Diagnosis ; Female ; Humans ; Hyperplasia ; Hypoglycemia ; Infant, Newborn ; Male ; Medical Records ; Pancreas ; Pancreatectomy* ; Seizures

Type 2 diabetes mellitus in children and adolescents has been increasing for last 10 years. The increase in frequency of type 2 diabetes appears to parallel the increase in prevalence and severity of obesity in children and adolescents. The metabolic syndrome, cluster of potent risk factors for atherosclerotic cardiovascular disease and type 2 diabetes, consists of insulin resistance, obesity, hypertension and hyperlipidemia. The atherosclerotic cardiovascular disease are rarely seen in the young, but the pathologic processes and risk factors are associated its development have been shown to begin during childhood. In pediatrician it is important to recognize early and treat aggressively for prevention of future cardiovascular disease in children and adolescents with metabolic syndrome.
Adolescent ; Cardiovascular Diseases ; Child ; Diabetes Mellitus, Type 2* ; Humans ; Hyperlipidemias ; Hypertension ; Insulin Resistance ; Obesity ; Pathologic Processes ; Prevalence ; Risk Factors