Adrenocortical tumors in children are rare and show various clinical symptoms. We present an 8-year-old boy with peripheral precocious puberty caused by adrenocortical tumor. He showed elevated serum DHEA-S and 17-hydroxyprogesterone, and computed tomography revealed an abdominal mass. After surgical resection, he developed central precocious puberty. We report a rare case that showed progression from peripheral precocious puberty to central precocious puberty.
17-alpha-Hydroxyprogesterone ; Adrenal Cortex Neoplasms ; Child ; Humans ; Puberty, Precocious

We report a very rare case of congenital adrenal agenesis presented with adrenal insufficiency in a 4-day-old female newborn. She was admitted with darkish skin color and seizure. Her external genitalia was normal. Elevated serum level of adrenocorticotropic hormone and increased plasma renin activity were observed. Plasma cortisol level and aldosterone level were decreased. Pelvic ultrasonography revealed bilateral agenesis of adrenal glands. Six exons of the steroidogenic factor-1 (SF-1, NR5A1) gene and their intronic flanking sequences were normal. Now, she is continuously receiving replacement doses of glucocorticoids and mineralocorticoids under adrenal insufficiency. Her growth and development are completely normal. We propose that when a patient presents with 46, XY disorder of sex development or normal female genitalia with adrenal insufficiency, SF-1 gene mutation study should be included in the differential diagnosis.
Adrenal Glands ; Adrenal Insufficiency ; Adrenocorticotropic Hormone ; Aldosterone ; Diagnosis, Differential ; Exons ; Female ; Genitalia ; Genitalia, Female ; Glucocorticoids ; Growth and Development ; Humans ; Hydrocortisone ; Infant, Newborn ; Introns ; Mineralocorticoids ; Plasma ; Renin ; Seizures ; Sexual Development ; Skin

Adrenocortical oncocytoma is a rare adrenal gland tumor, and in most cases, benign and non-functioning. Functional adrenocortical oncocytoma has only been reported in eleven cases worldwide, including three children. These cases all showed clinical symptoms and signs, such as virilization, feminization, Cushing syndrome and Conn syndrome, as a result of overproduction of adrenal steroid hormones. We report a 2-year-old girl who presented with precocious puberty with premature pubarche. Dehydroepiandrosterone sulfate (DHEA-S) and testosterone levels were elevated and a 1.9 cm right adrenocortical oncocytoma was found. After tumor resection, her hormone levels were normalized.
Adenoma, Oxyphilic ; Adrenal Glands ; Child ; Cushing Syndrome ; Dehydroepiandrosterone Sulfate ; Feminization ; Humans ; Hyperaldosteronism ; Preschool Child ; Puberty, Precocious ; Testosterone ; Virilism

An ectopic thyroid occurs when thyroid tissue has not properly migrated from the foramen cecum to the fourth tracheal ring along the midline of the ventral portion of the neck, but instead is located elsewhere. There are some cases of dual-site ectopic thyroid glands, usually involving adolescents or adults. Cases of neonatal dual ectopic thyroid glands are even rarer. We report a case of a dual ectopic thyroid with congenital hypothyroidism found during a neonatal screening of the lingual and upper cervical regions of a patient . The patient had no airway obstruction symptoms, such as dysphagia or grunting. The thyroxine (T4) level was 2.49 microg/dL (normal value: 6.2-22.0 microg/dL) and the thyroid-stimulating hormone (TSH) level was 217.85 microIU/mL (normal value: 1.7-9.1 microIU/mL). A dual ectopic thyroid was diagnosed based on a Tc-99m thyroid scan. After receiving thyroid hormone replacement therapy, the child has developed normally.
Adolescent ; Adult ; Airway Obstruction ; Cecum ; Child ; Congenital Hypothyroidism ; Deglutition Disorders ; Hormone Replacement Therapy ; Humans ; Infant, Newborn ; Neck ; Neonatal Screening ; Thyroid Dysgenesis ; Thyroid Gland ; Thyrotropin ; Thyroxine

PURPOSE: Serum alkaline phosphatase (sALP) levels show great variation with age and sex in children and adolescents. We aimed to study pediatric age- and sex-specific reference ranges for sALP and how the pattern changed according to age . METHODS: Cross-sectional results from 1366 healthy Korean children and adolescents (10-19.9 years) from the Korean National Health and Nutrition Examination Survey were analyzed. We constructed age- and sex-specific reference data for sALP with a Hitachi Automatic Analyzer 7600 using Pureauto S ALP. We assessed its peak both in relation to age. RESULTS: Reference values for sALP according to age were constructed. Peak sALP levels were found at 12-13 years in boys (P < 0.001). Total sALP levels decreased to the adult level at the age of 17 in boys and 15 in girls, respectively. CONCLUSION: This study provides reference values for sALP by age for Korean children and adolescents. This normative data that includes upper and lower limits will provide a basis from which to better evaluate sALP levels, especially for bone disorders such as rickets and vitamin D deficiency. However, caution should be made in interpreting sALP levels because different buffers might lead to different values in the same serum.
Adolescent ; Adult ; Alkaline Phosphatase ; Buffers ; Child ; Humans ; Nutrition Surveys ; Reference Values ; Rickets ; Sex Characteristics ; Vitamin D Deficiency

PURPOSE: The aim of this study was to observe clinical course including remission rate during antithyroid medication for Graves' disease in children and adolescents, and to evaluate factors related to remission. METHODS: This is a retrospective study of 42 patients (8 males), who were diagnosed at pediatric endocrine clinic in Chungbuk National University Hospital from January 1994 to December 2009. They were treated with antithyroid drugs only and were followed for at least 2 years. Their average age at diagnosis was 11.5 +/- 3.4 years, and average follow-up period was 4.5 +/- 2.2 years. RESULTS: At diagnosis, 64.3% of the subjects were in puberty, 87.8% showed goiter which was significantly prevalent in females (P < 0.05), and 38.9% manifested exophthalmos. Thyrotropin receptor antibody was positive in all the patients, whereas anti-microsomal antibody was positive in 88.1% and anti-thyroglobulin antibody in 81.0%. Twenty two (52.4%) patients remitted with 4.3 +/- 2.5 years' medication, and the others were continuously medicated at the last follow-up of 4.8 +/- 1.8 years. By quartile estimate for the remission time, 25 percentile was remitted at 3.7 years, 50 percentile at 7.1 years, and 75 percentile at 9.2 years. Among the factors for the remission, initial thyroid stimulating hormone level was significantly lower in non-remission group compared to remission group (P < 0.05). CONCLUSION: In pediatric Graves' disease treated only antithyroid drugs, the time required for remission is so long that it is necessary to establish fixed medication period and to choose definitive treatment modality as in adult Graves' disease through multicenter clinical study.
Adolescent ; Adult ; Antithyroid Agents ; Autoantibodies ; Child ; Exophthalmos ; Female ; Follow-Up Studies ; Goiter ; Graves Disease ; Humans ; Puberty ; Receptors, Thyrotropin ; Retrospective Studies ; Risk Factors ; Thyrotropin

PURPOSE: To evaluate the quality and scientific accuracy of internet information regarding precocious puberty. METHODS: We identified websites by entering "precocious puberty" or "early puberty" into 5 search engines from May to July 2011. The top 50 websites from each search engine were included, excluding websites that were duplicate, inaccessible, or had poor information (containing fewer than two subjects of definition, causes, diagnosis, or treatment); 60 sites were identified. We classified the websites according to website author, evaluated the quality with the DISCERN instrument, giving a scientific accuracy with information score (IS) ranging from 0 to 30 points. RESULTS: Analysis of the quality with the DISCERN instrument showed that the majority of websites received low overall ratings regardless of the authors. Assessing the scientific accuracy, the mean IS of oriental websites (10.82) was significantly low compared to that of academic authors (22.61), physician authors (21.50), commercial authors (22.88), and other authors (27.00). CONCLUSION: With the exception of oriental websites, scientifically accurate information was provided on the websites regarding precocious puberty. Most of the analyzed websites showed low reliability. It is important to provide reliable information as well as scientifically accurate information
Internet ; Puberty, Precocious ; Quality of Health Care ; Search Engine

PURPOSE: We observed the frequencies of microvascular complications and their related factors in patients with type 1 diabetes. METHODS: Two hundred seventy one patients (111 males and 160 females, mean age 21.9 +/- 5.8 years) with type 1 diabetes were included. Subjects were all at least 10 years old and had diabetes for at least two years. Three types of microvascular complications (diabetic nephropathy, retinopathy, and neuropathy) were evaluated, and their frequencies and risk factors were analyzed. RESULTS: The overall prevalence of microvascular disease was 83/271 (30.6%). Microalbuminuria had developed in 39 patients (14.4%), persistent microalbuminuria in 31 patients (11.4%), and proteinuria in 12 (4.4%). Diabetic retinopathy had developed in 35 patients (12.9%) and neuropathy in 39 patients (13.7%). The mean HbA1c for 10 years was significantly higher in the patients with microvascular complications (10.5 +/- 2.8% vs. 8.4 +/- 1.4%). The rate of intensive management in the non-complication group was higher than in the microvascular complication group. The incidence of microalbuminuria was greater in males than females, but there were no gender differences in either diabetic retinopathy or neuropathy. Puberty and the duration of diabetes may be associated with microvascular complications. CONCLUSION: The incidence of microvascular complications in type 1 diabetes is declining. Sex, puberty, and the duration of diabetes as well as prolonged hyperglycemia are all related to microvascular complications. Therefore, intensive insulin management and regular screening for microvascular complications should be performed in patients who have either entered into puberty or have had diabetes for more than 5 years.
Diabetes Complications ; Diabetes Mellitus, Type 1 ; Diabetic Retinopathy ; Female ; Humans ; Hyperglycemia ; Incidence ; Insulin ; Male ; Mass Screening ; Prevalence ; Proteinuria ; Puberty ; Risk Factors

Insulin like growth factor (IGF)-1 signaling through type 1 IGF receptor (IGF1R) is essential to the normal growth and development of the central nervous system. IGF-1 stimulates proliferation of neural stem cells and neural progenitors. IGF-1 also promotes survival and differentiation of neurons and oligodendrocytes, including neuritic outgrowth, synaptogenesis, and myelin production. The phosphatidylinositol 3 kinase (PI3)-Akt pathway and mitogen-activated protein (MAP) kinase pathway are two predominant mediators of IGF1-IGF1R signaling in neural cells. beta-catenin, a key molecule of the canonical Wnt signaling pathway, is also a downstream target of PI3-Akt-glycogen synthase kinase 3beta (GSK3beta) pathway. IGF-1 signaling through IGF1R interacts with canonical Wnt pathway at the levels of GSK3beta and beta-catenin rather than at the levels of Wnt ligands and Frizzled receptors to promote neural proliferation in developing central nervous system.
beta Catenin ; Brain ; Central Nervous System ; Frizzled Receptors ; Glycogen Synthase Kinase 3 ; Growth and Development ; Insulin ; Insulin-Like Growth Factor I ; Ligands ; Myelin Sheath ; Neural Stem Cells ; Neurons ; Oligodendroglia ; Phosphatidylinositol 3-Kinase ; Phosphotransferases ; Wnt Proteins ; Wnt Signaling Pathway

Children with chronic illness are known to have an increased risk of emotional and behavioral problems. Many studies have been conducted to identify risk and resistance factors associated with differences in adjustment among these children. It is a major theoretical framework of the Wallander and Varni model that modifiable risk and resistance factors can be identified empirically. Risk factors in the original model include disease/ disability parameters, functional dependence in the activities of daily living, and psychosocial stressors. Resistance factors in the original model are delineated in three categories: intrapersonal factors such as competence, temperament; socialecological factors such as family psychological environment, social support; and stressprocessing factors such as cognitive appraisal and coping strategies. In addition, it is proposed that the factors such as age of onset, certainty of diagnosis and prognosis of illness affect adjustment. Children with chronic illness are known to have an increased risk of emotional, behavioral, academic problems. Research findings show that children with chronic illnesses are at a higher risk for developing emotional problems such as anxiety, depression, social withdrawal and low self-esteem. The parents of children with Type 1 diabetes and asthma reported emotional and behavioral problems more. Also children with chronic illness tend to more behavior problems than healthy peers. Especially, increased risk of children with neurological conditions is explained by the lower level of cognitive functioning. The association of poor school performance with type I diabetes and sickle cell anemia is proposed.
Activities of Daily Living ; Affective Symptoms ; Age of Onset ; Anemia, Sickle Cell ; Anxiety ; Asthma ; Behavioral Symptoms ; Child ; Chronic Disease ; Depression ; Humans ; Mental Competency ; Parents ; Prognosis ; R Factors ; Risk Factors ; Social Environment