Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency

Background@#The study aimed to compare the growth responses to 3 years of growth hormone (GH) treatment in children and adolescents with GH deficiency (GHD) according to idiopathic, organic, isolated (IGHD), and multiple pituitary hormone deficiency (MPHD). @*Methods@#Total 163 patients aged 2–18 years (100 males and 63 females; 131 idiopathic and 32 organic GHD; 129 IGHD and 34 MPHD) were included from data obtained from the LG Growth Study. Parameters of growth responses and biochemical results were compared during the 3-year GH treatment. @*Results@#The baseline age, bone age (BA), height (Ht) standard deviation score (SDS), weight SDS, mid-parental Ht SDS, predicted adult Ht (PAH) SDS, and insulin like growth factor-1 (IGF-1) SDS were significantly higher in the organic GHD patients than in the idiopathic GHD patients, but peak GH on the GH-stimulation test, baseline GH dose, and mean 3-year-GH dosage were higher in the idiopathic GHD patients than in the organic GHD patients. The prevalence of MPHD was higher in the organic GHD patients than in the idiopathic GHD patients. Idiopathic MPHD subgroup showed the largest increase for the ΔHt SDS and ΔPAH SDS during GH treatment, and organic MPHD subgroup had the smallest mean increase after GH treatment, depending on ΔIGF-1 SDS and ΔIGF binding protein-3 (IGFBP-3) SDS.The growth velocity and the parental-adjusted Ht gain were greater in the idiopathic GHD patients than the organic GHD patients during the 3-year GH treatment, which may have been related to the different GH dose, ΔIGF-1 SDS, and ΔIGFBP-3 SDS between two groups.Multiple linear regression analysis revealed that baseline IGF-1 SDS, BA, and MPH SDS in idiopathic group and baseline HT SDS in organic group are the most predictable parameters for favorable 3-year-GH treatment. @*Conclusion@#The 3-year-GH treatment was effective in both idiopathic and organic GHD patients regardless of the presence of MPHD or underlying causes, but their growth outcomes were not constant with each other. Close monitoring along with appropriate dosage of GH and annual growth responses, not specific at baseline, are more important in children and adolescents with GHD for long-term treatment.

Thyroid imaging study in children with suspected thyroid dysgenesis

Purpose@#Thyroid dysgenesis is one of the most common causes of permanent congenital hypothyroidism. Thyroid ultrasonography or scan is used to detect thyroid dysgenesis. We analyzed the sensitivity and specificity of thyroid ultrasonography and scan in diagnosing thyroid dysgenesis to determine the clinical utility of each thyroid imaging method. @*Methods@#Sixty-one patients younger than 7 years of age were investigated via thyroid scan. Nineteen patients who were initially interpreted as having thyroid dysgenesis, such as ectopia, hemiagenesis, or aplasia, by thyroid scan were included in the study. Clinical characteristics and findings of a thyroid imaging study were reviewed. @*Results@#Initially, thyroid scan results were interpreted as ectopia (n=9), hemiagenesis (n=1), and nonvisualization (n=9). In contrast, the results of thyroid ultrasonography were normal thyroid gland (n=5), ectopia (n=6), and hypoplasia (n=8). After reviewing the results of both studies, final imaging diagnoses were as follows: normal thyroid gland (n=5), hemiagenesis (n=1), ectopia (n=9) including 2 dual ectopy, hypoplasia (n=3), and aplasia (n=1). Thyroid ultrasonography showed higher sensitivity and specificity in detecting presence of normal thyroid gland. Thyroid scan was better to detect ectopia. Among 8 patients who were initially interpreted as having hypoplasia by ultrasonography, 4 were confirmed as ectopia and one as aplasia. @*Conclusion@#This study showed that thyroid ultrasonography is useful as the first-line imaging study to detect normal-sized eutopic thyroid gland. Thyroid scan should be performed to investigate the presence of ectopia if hypoplasia or aplasia is suspected by ultrasonography.

Thyroid imaging study in children with suspected thyroid dysgenesis

Purpose@#Thyroid dysgenesis is one of the most common causes of permanent congenital hypothyroidism. Thyroid ultrasonography or scan is used to detect thyroid dysgenesis. We analyzed the sensitivity and specificity of thyroid ultrasonography and scan in diagnosing thyroid dysgenesis to determine the clinical utility of each thyroid imaging method. @*Methods@#Sixty-one patients younger than 7 years of age were investigated via thyroid scan. Nineteen patients who were initially interpreted as having thyroid dysgenesis, such as ectopia, hemiagenesis, or aplasia, by thyroid scan were included in the study. Clinical characteristics and findings of a thyroid imaging study were reviewed. @*Results@#Initially, thyroid scan results were interpreted as ectopia (n=9), hemiagenesis (n=1), and nonvisualization (n=9). In contrast, the results of thyroid ultrasonography were normal thyroid gland (n=5), ectopia (n=6), and hypoplasia (n=8). After reviewing the results of both studies, final imaging diagnoses were as follows: normal thyroid gland (n=5), hemiagenesis (n=1), ectopia (n=9) including 2 dual ectopy, hypoplasia (n=3), and aplasia (n=1). Thyroid ultrasonography showed higher sensitivity and specificity in detecting presence of normal thyroid gland. Thyroid scan was better to detect ectopia. Among 8 patients who were initially interpreted as having hypoplasia by ultrasonography, 4 were confirmed as ectopia and one as aplasia. @*Conclusion@#This study showed that thyroid ultrasonography is useful as the first-line imaging study to detect normal-sized eutopic thyroid gland. Thyroid scan should be performed to investigate the presence of ectopia if hypoplasia or aplasia is suspected by ultrasonography.

Basal serum luteinizing hormone value as the screening biomarker in female central precocious puberty

PURPOSE: Precocious puberty refers to the development of secondary sex characteristics before ages 8 and 9 years in girls and boys, respectively. Central precocious puberty (CPP) is caused by premature activation of the hypothalamus-pituitary-gonadal (HPG) axis and causes thelarche in girls before the age of 8. A gonadotropin-releasing hormone (GnRH) stimulation test is the standard diagnostic modality for diagnosing CPP. However, the test cannot always be used for screening because it is expensive and time-consuming. This study aimed to find alternative reliable screening parameters to identify HPG axis activation in girls <8 years old (CPP) and for girls 8–9 years old (early puberty, EP). METHODS: From January 2013 to June 2015, medical records from 196 girls younger than 9 years old with onset of breast development were reviewed, including 126 girls who had a bone age (BA) 1 year above their chronological age. All patients underwent a GnRH stimulation test, and 117 underwent pelvic sonography. The girls were divided into 4 groups based on age and whether the GnRH stimulation test showed evidence of central puberty. Subanalyses were also conducted within each group based on peak luteinizing hormone (LH) level quartiles. RESULTS: Basal serum LH level was the most sensitive marker for screening CPP and EP. The cutoff values were 0.245 IU/L for CPP under 8 years old (P=0.049, area under the curve [AUC]=0.764, 88% sensitivity, 48% specificity) and 0.275 IU/L for EP between 8–9 years old (P=0.005, AUC=0.813, 79% sensitivity, 77% specificity). Peak LH level decreased as BMI z-score among subgroups increased when there was no difference in BA; however, higher BA eliminated this effect. CONCLUSION: Basal serum LH level is a useful screening parameter for diagnosing CPP and EP in girls. Peak LH levels were lower with increasing BMI z-score, although older BA eliminated this effect.

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis. CH due to a TG gene mutation is one cause of thyroid dyshormonogenesis and can be characterized by goitrous CH with absent or low levels of serum thyroglobulin (Tg). In the present case, a 15-day-old neonate was referred to us with elevated thyroid stimulating hormone detected during a neonatal screening test. At the age of 34 months, extensive genetic testing was performed, including targeted exome sequencing for hypothyroidism, and revealed compound heterozygous mutations in the TG gene. Sanger sequencing of both parents’ DNA samples revealed a c.3790T> C (p.Cys1264Arg) mutation located at exon 17 inherited from the mother, and a c.4057C> T (p.Gln1353*) mutation located at exon 19 was inherited from the father. The c.4057C> T (p.Gln1353*) mutation located at exon 19 has never been reported and, therefore, is a new discovery. We report a case of primary permanent CH with compound heterozygous mutations of the TG gene, including a novel mutation.

Clinical Features and Neurologic Complications of Pediatric Enteroviral Meningitis / 대한소아신경학회지

PURPOSE: To explore clinical features and neurologic complications of pediatric enteroviral meningitis, and to evaluate risk factors according to the presence of cerebrospinal fluid (CSF) pleocytosis and neurologic complications. METHODS: Retrospective review of medical records of patients aged between 1 month and 18 years who were found positive for CSF enterovirus reverse transcription polymerase chain reaction in Dankook University Hospital from March 2009 to February 2015. RESULTS: A total of 151 children was enrolled in the study. Ninety four patients were males and the age at diagnosis was 40.9±47.0 months. Most common season of admission was summer (n=99, 65.6%). Most frequent presenting symptom was fever followed by poor oral intake, decreased activity, and headache. Fifty five (36.4%) patients had no CSF pleocytosis. Complications were observed in 4 (2.6%). Mean blood white blood cell, CSF protein levels were higher, and CSF glucose levels were lower in group with pleocytosis (P < 0.05). There were more seizure development and mental changes, higher peak body temperature, longer fever duration, and longer duration from symptom onset to CSF tapping in group with complications (P < 0.05). All were boys and mean age at admission was younger in group with complications, without statistically significant difference. CONCLUSION: Relatively high proportion of children with enteroviral meningitis showed no pleocytosis. Complications such as meningoencephalitis, refractory status epilepticus, or recurrent seizure rarely occurred, although most had good clinical outcomes.

Factors Associated with the Presence and Severity of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Korean Children and Adolescents

The aim of this study was to identify the risk factors for presence and severity of diabetic ketoacidosis (DKA) at the onset of type 1 diabetes mellitus (T1DM) in Korean children and adolescents. A retrospective chart review of children and adolescents newly diagnosed with T1DM was conducted in seven secondary and tertiary centers in Korea. Eligible subjects were < 20 years of age and had records on the presence or absence of DKA at the time of T1DM diagnosis. DKA severity was categorized as mild, moderate, or severe. Data were collected on age, height, body weight, pubertal status, family history of diabetes, delayed diagnosis, preceding infections, health insurance status, and parental education level. A total of 361 patients (male 46.3%) with T1DM were included. Overall, 177 (49.0%) patients presented with DKA at T1DM diagnosis. Risk factors predicting DKA at T1DM diagnosis were age ≥ 12 years, lower serum C-peptide levels, presence of a preceding infection, and delayed diagnosis. Low parental education level and preceding infection increased the severity of DKA. These results suggest that alertness of the physician and public awareness of diabetes symptoms are needed to decrease the incidence and severity of DKA at T1DM diagnosis.

1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis / 소아과

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

Clinical features of childhood diabetes mellitus focusing on latent autoimmune diabetes

PURPOSE: This study was designed to evaluate the clinical characteristics of childhood diabetes mellitus (DM) according to its classification as well as the clinical course of latent autoimmune diabetes (LAD) that initially showed noninsulin dependence despite autoantibody positivity. METHODS: A total of 91 subjects diagnosed between 2001 and 2015 were enrolled in the study. They were classified into 3 groups: type 1 DM, LAD, and type 2 DM. Clinical features and laboratory findings were compared among groups. RESULTS: Among 91 subjects, type 1 DM, LAD, and type 2 DM were 51 (56.0%), 7 (7.7%), and 33 (36.3%), respectively. In LAD, age at diagnosis and BMI Z-scores were higher, as compared with those in type 1 DM. Initial serum c-peptide levels were higher in LAD than those in type 1 DM, but lower than those in type 2 DM. In LAD, the mean follow-up duration was 4.56 years, and 43% of the patients ultimately required intensive insulin treatment with dosage of > 0.5 U/kg/day. HbA1C and serum c-peptide levels at the time of intensive insulin treatment were 9.43±0.93% and 1.37±1.36 ng/mL, respectively. Recent serum c-peptide/glucose ratio was lower in the group requiring intensive insulin treatment than the group without intensive insulin treatment, with P-value of 0.057 (0.003±0.005 vs. 0.071±0.086). CONCLUSION: Initial autoantibody evaluation is useful for classification and management. Close monitoring of the patients with LAD is important due to the expected need for intensive insulin treatment within several years.

Clinical features of childhood diabetes mellitus focusing on latent autoimmune diabetes

PURPOSE: This study was designed to evaluate the clinical characteristics of childhood diabetes mellitus (DM) according to its classification as well as the clinical course of latent autoimmune diabetes (LAD) that initially showed noninsulin dependence despite autoantibody positivity. METHODS: A total of 91 subjects diagnosed between 2001 and 2015 were enrolled in the study. They were classified into 3 groups: type 1 DM, LAD, and type 2 DM. Clinical features and laboratory findings were compared among groups. RESULTS: Among 91 subjects, type 1 DM, LAD, and type 2 DM were 51 (56.0%), 7 (7.7%), and 33 (36.3%), respectively. In LAD, age at diagnosis and BMI Z-scores were higher, as compared with those in type 1 DM. Initial serum c-peptide levels were higher in LAD than those in type 1 DM, but lower than those in type 2 DM. In LAD, the mean follow-up duration was 4.56 years, and 43% of the patients ultimately required intensive insulin treatment with dosage of > 0.5 U/kg/day. HbA1C and serum c-peptide levels at the time of intensive insulin treatment were 9.43±0.93% and 1.37±1.36 ng/mL, respectively. Recent serum c-peptide/glucose ratio was lower in the group requiring intensive insulin treatment than the group without intensive insulin treatment, with P-value of 0.057 (0.003±0.005 vs. 0.071±0.086). CONCLUSION: Initial autoantibody evaluation is useful for classification and management. Close monitoring of the patients with LAD is important due to the expected need for intensive insulin treatment within several years.

A Case of Diffuse Neonatal Hemangiomatosis Successfully Treated with Propranolol / 임상소아혈액종양

We present a case of a 41-day-old girl with diffuse hemangiomatosis on her chin, right thigh, occipital area, and liver. She also had hepatomegaly, heart failure, and hypothyroidism. Hemangiomatosis did not respond to 2 weeks of oral administration of prednisolone, but was successfully treated with propranolol. After 2 years of propranolol treatment, the lesions of hemangiomatosis nearly disappeared. Hypothyroidism was controlled by levothyroxine replacement. As hemangiomatosis regressed, thyroid function was normalized. Propranolol may have adverse effects including hypotension, hypoglycemia, bronchoconstriction, and restlessness, but she did not experience such adverse effects. Propranolol could be the first choice for diffuse neonatal hemangiomatosis (DNH). Our case also suggests that thyroid function test is needed in patient with DNH.

A Case of Diffuse Neonatal Hemangiomatosis Successfully Treated with Propranolol / 임상소아혈액종양

We present a case of a 41-day-old girl with diffuse hemangiomatosis on her chin, right thigh, occipital area, and liver. She also had hepatomegaly, heart failure, and hypothyroidism. Hemangiomatosis did not respond to 2 weeks of oral administration of prednisolone, but was successfully treated with propranolol. After 2 years of propranolol treatment, the lesions of hemangiomatosis nearly disappeared. Hypothyroidism was controlled by levothyroxine replacement. As hemangiomatosis regressed, thyroid function was normalized. Propranolol may have adverse effects including hypotension, hypoglycemia, bronchoconstriction, and restlessness, but she did not experience such adverse effects. Propranolol could be the first choice for diffuse neonatal hemangiomatosis (DNH). Our case also suggests that thyroid function test is needed in patient with DNH.

Analysis of Dermatologic Diseases in Neurosurgical In-Patients: A Retrospective Study of 463 Cases

BACKGROUND: Both the skin and the neurologic system are derived from the ectoderm during embryogenesis, and thus patients with neurologic disorders may have accompanying dermatologic diseases. For example, seborrheic dermatitis is more frequently observed in patients with Parkinsonism and other neurologic disorders. To date, however, there has been limited review on dermatologic diseases in neurosurgical in-patients. OBJECTIVE: The purpose of this study was to characterize dermatological problems encountered in a neurosurgery unit and to compare these data to previous reports of in-patient dermatologic consultations. METHODS: A retrospective review was conducted over all in-patient dermatology consultations from the neurosurgery unit during a 3-year period. RESULTS: Of 2,770 dermatology consultations, 463 (16.7%) came from the department of neurosurgery. The most frequent age group was the 6th decade of life, and the ratio of men to women was 1.07. Consults were most frequently placed from patients with intracranial hemorrhage (23.8%). Eczema/dermatitis (36.5%; n=204) and cutaneous infections (27.0%; n=151) accounted for more than half of all dermatological consultations, followed by cutaneous adverse drug reactions (11.8%; n=66). Additionally, seborrheic dermatitis was significantly more frequent (p=0.048, odds ratio=1.96) in patients with intracranial hemorrhage. CONCLUSION: This study characterizes the distribution of skin disorders in patients admitted to the neurosurgery service based on the consultations that have been made for dermatologic evaluation. Collaboration between the neurosurgeons and dermatologists may improve the quality of patient care and help to better predict the occurrence of these conditions.

Clinical usefulness of the measurement of serum fructosamine in childhood diabetes mellitus

PURPOSE: Glycosylated hemoglobin (HbA1c) is often used as an indicator of glucose control. It usually reflects the average glucose levels over two to three months, and is correlated with the development of long-term diabetic complications. However, it can vary in cases of hemoglobinopathy or an altered red blood cell lifespan. The serum fructosamine levels reflect the mean glucose levels over two to three weeks. This study was designed to determine the clinical usefulness of the combined measurement of serum fructosamine and HbA1c in the management of childhood diabetes mellitus and the correlation between them. METHODS: Clinical data on 74 Korean children and adolescents with diabetes mellitus who were under management at the Department of Pediatrics of Dankook University Hospital were evaluated. Their fructosamine and HbA1c levels were reviewed based on clinical information, and analyzed using IBM SPSS Statistics ver. 21. RESULTS: Their HbA1c levels showed a strong correlation with their fructosamine levels (r=0.868, P<0.001). The fructosamine level was useful for the prompt evaluation of the recent therapeutic efficacy after the change in therapeutic modality. It was also profitable in determining the initial therapeutics and for the estimation of the onset of the disease, such as fulminant diabetes. CONCLUSION: The measurement of both fructosamine and HbA1c was useful in managing childhood diabetes mellitus, especially when there was discrepancy between the clinical information and the HbA1c level.

Assessment of Bone Age in Prepubertal Healthy Korean Children: Comparison among the Korean Standard Bone Age Chart, Greulich-Pyle Method, and Tanner-Whitehouse Method

OBJECTIVE: To compare the reliability of the Greulich-Pyle (GP) method, Tanner-Whitehouse 3 (TW3) method and Korean standard bone age chart (KS) in the evaluation of bone age of prepubertal healthy Korean children. MATERIALS AND METHODS: Left hand-wrist radiographs of 212 prepubertal healthy Korean children aged 7 to 12 years, obtained for the evaluation of the traumatic injury in emergency department, were analyzed by two observers. Bone age was estimated using the GP method, TW3 method and KS, and was calculated in months. The correlation between bone age measured by each method and chronological age of each child was analyzed using Pearson correlation coefficient, scatterplot. The three methods were compared using one-way analysis of variance. RESULTS: Significant correlations were found between chronological age and bone age estimated by all three methods in whole group and in each gender (R2 ranged from 0.87 to 0.9, p 0.01). CONCLUSION: The KS, GP, and TW3 methods show good reliability in the evaluation of bone age of prepubertal healthy Korean children without significant difference between them. Any are useful for evaluation of bone age in prepubertal healthy Korean children.

Risk factors of vitamin D deficiency in children with epilepsy taking anticonvulsants at initial and during follow-up

PURPOSE: Vitamin D status was evaluated in children with epilepsy taking anticonvulsants to determine the prevalence and risk factors of vitamin D deficiency. METHODS: This study was designed as both a cross-sectional and a retrospective cohort study. A sum of 198 children who were diagnosed with epilepsy at the Department of Pediatrics in Dankook University Hospital was included. Their serum vitamin D levels were reviewed based on clinical information, and analyzed using IBM SPSS ver. 20.0. RESULTS: One hundred twenty-four children (62.6%) had vitamin D deficiency. Two risk factors were associated: winter to spring season (odds ratio [OR], 3.71; 95% confidence interval [CI], 1.835-7.492) and age more than 12 years (OR, 3.22; 95% CI, 1.377-7.542). Out of the 57 patients who were not vitamin D deficient at the time of initial assay, 47 patients (82.5%) became vitamin D deficient during followup. The change of serum 25-hydroxy vitamin D3 (25(OH)D) levels during follow up showed a weak negative correlation with the duration of medication (r=-0.283, P=0.033). Medication duration was longer and brain magnetic resonance imaging (MRI) abnormality, abnormal underlying conditions, and nonambulatory status were more frequently present in twenty-five patients (44%) who showed a decline of more than 15 ng/mL during follow-up (P<0.05). CONCLUSION: Vitamin D deficiency is common in children with epilepsy taking anticonvulsants, especially in adolescents more than 12 years of age. This study emphasizes the regular monitoring of vitamin D level, especially in the presence of longer duration of medication, brain MRI abnormality, abnormal underlying conditions, and nonambulatory status.

Endocrine disorders and the neurologic manifestations

The nervous system and the endocrine system are closely interrelated and both involved intimately in maintaining homeostasis. Endocrine dysfunctions may lead to various neurologic manifestations such as headache, myopathy, and acute encephalopathy including coma. It is important to recognize the neurologic signs and symptoms caused by the endocrine disorders while managing endocrine disorders. This article provides an overview of the neurologic manifestations found in various endocrine disorders that affect pediatric patients. It is valuable to think about 'endocrine disorder' as a cause of the neurologic manifestations. Early diagnosis and treatment of hormonal imbalance can rapidly relieve the neurologic symptoms. Better understanding of the interaction between the endocrine system and the nervous system, combined with the knowledge about the pathophysiology of the neurologic manifestations presented in the endocrine disorders might allow earlier diagnosis and better treatment of the endocrine disorders.

Clinical Characteristics and Outcomes of Neonatal Seizures / 대한소아신경학회지

PURPOSE: Neonatal seizures are one of the most common neurologic manifestations in neonates and could be the important clinical sign of underlying brain disorders. The aim of this study is to review the clinical characteristics and to find the prognostic factors related to the outcomes of neonatal seizures. METHODS: We reviewed medical records retrospectively in 23 patients with neonatal seizures who admitted to Dankook University Hospital from July 2007 to June 2009. RESULTS: During the study period, neonatal seizures were diagnosed in 23/1,474 (1.56%) neonates. Nineteen of them (82.6%) were term and 4 were preterm. The main cause of neonatal seizures was hypoxic ischemic encephalopathy (n=8, 35%). Other various causes included metabolic disorders (n=4, 17%, carnitine palmitoyl transferase 1 deficiency, severe hypernatremic dehydration, prolonged severe hypoglycemia, and pyridoxine dependent seizure), intracranial hemorrhages (n=2, 9%), congenital brain anomaly (callosal dysgenesis, hemimegalencephaly) (n=2, 9%), and infection (congenital syphilis, early neonatal sepsis, n=2, 9%). Among nineteen neonates (82.6%) who were treated with anticonvulsants, we could not stop the anticonvulsants in six of them (32%). They had severe HIE, prolonged severe hypoglycemia with residual encephalomalatic changes, sinovenous thrombotic hemorrhages due to antithrombin III deficiency, congenital brain anomaly, and septic shock, respectively. CONCLUSION: Approximately one third of neonatal seizures were caused by HIE, and moderate to severe HIE had more serious outcomes. Neonatal seizure could be a significant clinical sign indicating specific underlying etiologies such as stroke, metabolic disturbances or congenital brain anomalies. Therefore, intensive workup and prompt management for neonatal seizures should be considered for better outcomes.

Sensitization rates to inhalant allergens in children and adolescents of Incheon and Asan area and the relationship between polysensitization and prevalence of allergic diseases

PURPOSE: Sensitization to allergens is considered as major mechanism of allergy and related to the development of allergic diseases. The objective of this study was to evaluate overall sensitization rates of inhalant allergens and the relationship between polysensitization and prevalence of allergic diseases in children and adolescents. METHODS: A cross-sectional pilot study of 122 elementary school students, 114 middle school students, and 115 high school students from Incheon and Asan was conducted by using the International Study of Asthma and Allergies in Childhood (ISSAC) questionnaire. The skin prick tests were performed with 14 common inhalant allergens on 339 students. RESULTS: The inhalant allergen that has a significantly different sensitization rate according to age was Dermatophagoides farinae. And the inhalant allergen that has significantly different sensitization rate according to region was Japanese hop. In addition, girls have higher sensitization rate to any mold allergens than boys. In case of having sensitization more than two allergens, the risks of diagnosis of asthma and allergic rhinitis on questionnaire were increased. Asthma is related to sensitization of dog or cat and allergic rhinitis is related to sensitization of house dust mites. However, atopic dermatitis is not related to sensitization of any inhalant allergens. CONCLUSION: The sensitization rates of inhalant allergens may differ among age, gender, and region in children and adolescents of Incheon and Asan area. The polysensitized children and adolescents with inhalant allergens showed higher prevalences of allergic diseases such as asthma and allergic rhinitis on questionnaire than monosensitized group.

Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome). Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH) stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.