Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 32
Filter
1.
Annals of Pediatric Endocrinology & Metabolism ; : 49-53, 2023.
Article in English | WPRIM | ID: wpr-966263

ABSTRACT

Purpose@#The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP). @*Methods@#The medical records of 40 patients with CPP and 206 patients with EP who completed GnRH agonist treatment following diagnosis were analyzed retrospectively. Height and height standard deviation (height SDS) scores based on bone age (BA) were measured and calculated at baseline, after treatment completion, and at final follow-up to compare changes within and between groups. Predicted adult height (PAH) was estimated by the height corresponding to height SDS for BA in girls at 18 years 11 months of age based on the growth chart. @*Results@#PAH at baseline did not differ significantly between the CPP group (153.67±4.95) and the EP group (154.77±3.72). In the CPP group, PAH significantly increased at treatment completion (156.01±4.61) and at final follow-up (158.52±6.04) compared to baseline. In the EP group, PAH significantly increased at treatment completion (157.7±3.60) and at final follow-up (159.31±4.26) compared to baseline. The increase in PAH at all timepoints compared to baseline did not significantly differ between the CPP and EP groups. @*Conclusion@#Both CPP and EP groups had significantly greater PAH after treatment, with no difference in the amount of increase between groups. These results show that GnRH agonist treatment can help increase final height even in patients diagnosed with EP after the age of 8 years.

2.
Annals of Pediatric Endocrinology & Metabolism ; : 37-43, 2022.
Article in English | WPRIM | ID: wpr-925478

ABSTRACT

Purpose@#To investigate growth response in children with either idiopathic short stature (ISS) or growth hormone (GH) deficiency (GHD). @*Methods@#The data of prepubertal GHD or ISS children treated using recombinant human GH were obtained from the LG Growth Study database. GHD children were further divided into partial and complete GHD groups. Growth response and factors predicting growth response after 1 and 2 years of GH treatment were investigated. @*Results@#This study included 692 children (98 with ISS, 443 partial GHD, and 151 complete GHD). After 1 year, changes in height standard deviation score (ΔHt-SDS) were 0.78, 0.83, and 0.96 in ISS, partial GHD, and complete GHD, respectively. Height velocity (HV) was 8.72, 9.04, and 9.52 cm/yr in ISS, partial GHD, and complete GHD, respectively. ΔHt-SDS and HV did not differ among the 3 groups. Higher initial body mass index standard deviation score (BMI-SDS) and midparental height standard deviation score (MPH-SDS) were predictors for better growth response after 1 year in ISS and the partial GHD group, respectively. In the complete GHD group, higher Ht-SDS and BMI-SDS predicted better growth response after 1 year. After 2 years of GH treatment, higher BMI-SDS and MPH-SDS predicted a better growth outcome in the partial GHD group, and higher MPH-SDS was a predictor of good growth response in complete GHD. @*Conclusion@#Clinical characteristics and growth response did not differ among groups. Predictors of growth response differed among the 3 groups, and even in the same group, a higher GH dose would be required when poor response is predicted.

3.
Gut and Liver ; : 109-116, 2021.
Article in English | WPRIM | ID: wpr-874579

ABSTRACT

Background/Aims@#To date, studies on various noninvasive techniques have been suggested to evaluate the degree of liver fibrosis. We aimed to investigate the diagnostic performance of se-rum asialo α1-acid glycoprotein (AsAGP) in the diagnosis of liver cirrhosis compared with chronic hepatitis for clinically useful result. @*Methods@#We conducted a case-control study of 96 patients with chronic liver disease. Chronic hepatitis was defined as the presence of chronic liver disease on ultrasonography, with a liver stiffness of less than 5.0 kPa as shown on magnetic resonance elastography (MRE). Liver cirrho-sis was defined as liver stiffness of more than 5.0 kPa on MRE. The serum AsAGP concentration was compared between the two groups. @*Results@#Serum AsAGP levels were significantly higher in patients with cirrhosis than in those with chronic hepatitis (1.83 μg/mL vs 1.42 μg/mL, p<0.001). Additionally, when comparing pa-tients in each cirrhotic group (Child-Pugh grades A, B, and C) to those with chronic hepatitis, AsAGP levels were significantly higher in all the cirrhotic groups (p<0.05, p<0.01, p<0.001, respectively). The sensitivity and specificity of AsAGP for detecting cirrhosis were 79.2% and 64.6%, respectively, and the area under the curve value was 0.733. The best diagnostic cutoff to predict cirrhosis was 1.4 μg/mL. AsAGP and bilirubin were found to be independent risk factors for the prediction of cirrhosis in the logistic regression analysis. @*Conclusions@#Serum AsAGP showed an acceptable diagnostic performance in predicting liver cirrhosis.

4.
Allergy, Asthma & Respiratory Disease ; : 21-26, 2021.
Article in English | WPRIM | ID: wpr-874074

ABSTRACT

Purpose@#Congenital pulmonary airway malformation (CPAM) is a rare developmental abnormality of the lungs. We investigated clinical characteristics of CPAM based on patient age at diagnosis. @*Methods@#In this retrospective study, we analyzed the medical records of 51 patients diagnosed with CPAM at Pusan National University Hospital between January 2000 and December 2019. @*Results@#We investigated 39 children and 12 adults. The mean age at the diagnosis of the patients was 15.9± 14.3 years. The mean ages of children and adults at the time of diagnosis of CPAM were 6.8± 5.8 years and 31.2± 10.2 years, respectively. Among the 51 patients investigated, 20 (39%) were asymptomatic and 31 (61%) showed clinical symptoms, such as dry cough, recurrent respiratory infections, and dyspnea at the time of diagnosis. Notably, clinical symptoms at diagnosis were observed in 28 children (72%) and in only 3 adults (25%) (P= 0.006), and children were more symptomatic than adults. Children with large cysts tended to be more symptomatic than those with small cysts (P< 0.001). Combined anomalies were detected in 12 patients (23%). Patients with cystic lesions in the right lower lobe of the lung showed a higher prevalence of combined anomalies (P= 0.015). Surgical resection was performed in 40 patients (78%), and all patients showed good prognosis. @*Conclusion@#This study revealed that the presence of clinical symptoms of CPAM differed between children and adults, depending on the age at diagnosis and that patients with cysts in the right lower lobe of the lungs tended to show a higher prevalence of combined anomalies.

5.
Annals of Pediatric Endocrinology & Metabolism ; : 282-286, 2020.
Article in English | WPRIM | ID: wpr-889157

ABSTRACT

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves’ disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and anti-thyroid-stimulating hormone (TSH) receptor antibody were all negative. During follow-up, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Whole-exome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial nonautoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant.

6.
Annals of Pediatric Endocrinology & Metabolism ; : 63-67, 2020.
Article | WPRIM | ID: wpr-830456

ABSTRACT

Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy’s mother who exhibited genu varum and short stature.

7.
Annals of Pediatric Endocrinology & Metabolism ; : 282-286, 2020.
Article in English | WPRIM | ID: wpr-896861

ABSTRACT

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves’ disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and anti-thyroid-stimulating hormone (TSH) receptor antibody were all negative. During follow-up, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Whole-exome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial nonautoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant.

8.
Neonatal Medicine ; : 63-66, 2019.
Article in English | WPRIM | ID: wpr-741662

ABSTRACT

Herpes simplex virus (HSV) is a common pathogen, that causes a broad spectrum of diseases, ranging from minor skin infections to severe encephalitis and widespread infections. Acute retinal necrosis (ARN), one of the most serious manifestations of HSV infection, is defined as a rapidly progressing necrotizing retinopathy that presents discrete areas of circumferential retinal necrosis, along with signs of uveitis, vitreitis, and retinal vasculitis. We encountered a case of a female infant, born at 33 weeks of gestation with a body weight at birth of 2,080 g, who had ARN and encephalomalacia due to HSV infection. ARN associated with HSV infection should be suspected when nonspecific retinal exudates are observed in neonates, especially preterm infants.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Pregnancy , Body Weight , Encephalitis , Encephalomalacia , Exudates and Transudates , Herpes Simplex , Herpesvirus 2, Human , Infant, Premature , Necrosis , Parturition , Retinal Necrosis Syndrome, Acute , Retinal Vasculitis , Retinaldehyde , Simplexvirus , Skin , Uveitis
9.
Journal of the Korean Child Neurology Society ; (4): 175-179, 2018.
Article in English | WPRIM | ID: wpr-728844

ABSTRACT

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.


Subject(s)
Adolescent , Humans , Male , Central Nervous System , Glioblastoma , Neurocutaneous Syndromes , Neurofibromatoses , Neurofibromatosis 1 , Neurofibromin 1 , Optic Nerve Glioma
10.
Journal of the Korean Child Neurology Society ; (4): 280-283, 2018.
Article in English | WPRIM | ID: wpr-728807

ABSTRACT

Magnetic resonance imaging (MRI) is recommended for patients with epileptic seizures to rule out an underlying focal lesion. However, abnormalities in idiopathic generalized epilepsy, including childhood absence epilepsy, cannot usually be identified using brain imaging modalities such as MRI. Peri-ictal MRI abnormalities have been most commonly reported secondary to status epilepticus and are rarely observed in patients with focal seizures and generalized tonic-clonic seizures. Transient peri-ictal MRI abnormalities in absence epilepsy are extremely rare. A five-year-old girl presented with a three-day history of absence seizures that persisted despite continued treatment with sodium valproate. Electroencephalography showed bursts of generalized 3-Hz spike-and-wave discharges, during and after hyperventilation. Abnormal cortex thickening in the left perisylvian region was detected on T2-weighted brain MRI, and cortical dysplasia or a tumor was suspected. The patient started treatment with lamotrigine and was seizure-free after one month. The abnormal MRI lesion was completely resolved at the two-month follow-up. We report on a patient with childhood absence epilepsy and reversible brain MRI abnormalities in the perisylvian region. To our knowledge, this is the first report of transient MRI abnormalities after absence seizures. Transient peri-ictal MRI abnormalities should be considered for differential diagnosis in patients with absence seizures and a focal abnormality on brain MRI.


Subject(s)
Female , Humans , Brain , Diagnosis, Differential , Electroencephalography , Epilepsy , Epilepsy, Absence , Epilepsy, Generalized , Follow-Up Studies , Hyperventilation , Magnetic Resonance Imaging , Malformations of Cortical Development , Neuroimaging , Seizures , Status Epilepticus , Valproic Acid
11.
Korean Journal of Pediatrics ; : 332-337, 2018.
Article in English | WPRIM | ID: wpr-717617

ABSTRACT

PURPOSE: Bell's palsy is characterized by sudden onset of unilateral facial weakness. The use of corticosteroids for childhood Bell's palsy is controversial. This study aimed to identify clinical characteristics, etiology, and laboratory findings in childhood Bell's palsy, and to evaluate the efficacy of corticosteroid treatment. METHODS: We conducted a retrospective analysis of children under 19 years of age treated for Bell's palsy between January 2009 and June 2017, and followed up for over 1 month. Clinical characteristics, neuroimaging data, laboratory findings, treatments, and outcomes were reviewed. Patients with Bell's palsy were divided into groups with (group 1) and without (group 2) corticosteroid treatment. Differences in onset age, sex, laterality, infection and vaccination history, degree of facial nerve palsy, and prognosis after treatment between the groups were analyzed. RESULTS: One hundred patients were included. Mean age at presentation was 7.4±5.62 years. A total of 73 patients (73%) received corticosteroids with or without intravenous antiviral agents, and 27 (27%) received only supportive treatment. There was no significant difference in the severity, laboratory findings, or neuroimaging findings between the groups. Significant improvement was observed in 68 (93.2%) and 26 patients (96.3%) in groups 1 and 2, respectively; this rate was not significantly different between the groups (P=0.48). CONCLUSION: Childhood Bell's palsy showed good prognosis with or without corticosteroid treatment; there was no difference in prognosis between treated and untreated groups. Steroid therapy in childhood Bell's palsy may not significantly improve outcomes.


Subject(s)
Child , Humans , Adrenal Cortex Hormones , Age of Onset , Antiviral Agents , Bell Palsy , Facial Nerve , Facial Paralysis , Neuroimaging , Paralysis , Prognosis , Retrospective Studies , Vaccination
12.
Annals of Pediatric Endocrinology & Metabolism ; : 169-175, 2018.
Article in English | WPRIM | ID: wpr-719226

ABSTRACT

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.


Subject(s)
Congenital Hypothyroidism , Diagnosis , Exome , Genetics , Thyroid Gland , Wills
13.
Journal of Korean Neuropsychiatric Association ; : 97-102, 2016.
Article in Korean | WPRIM | ID: wpr-197560

ABSTRACT

OBJECTIVES: This study was conducted to examine the mediating effect of depression on the relationship between behavior inhibition system (BIS) and smart-phone addiction (SA) in Korea. METHODS: An online survey was conducted including 5003 adult participants. Except for people without a smartphone, participants consisted of 2573 men and 2281 women, including a 20s group, 1611, 30s group, 2133, and 40s group, 1110. For evaluation of psychiatric symptoms and personal characteristics, participants were asked to complete self-reports, including BIS scale, depression scale of SCL-90-R (Dep), and SA scale. RESULTS: The BIS predicted both variance of depression and SA (BIS→Dep : β=0.374, p<0.001 ; BIS→SA : β=0.268, p<0.001), and depression predicted SA (β=0.386, p<0.001). The result of hierarchial regression analysis showed that depression mediated the relationship between behavior inhibition system and SA. Thus the effects between behavior inhibition system and smartphone decreased (β=0.268→0.144). CONCLUSION: Depression mediates the influence of behavior inhibition system on SA. This result indicates that biological traits and negative emotions, such as depression, have an important influence on behavioral addiction.


Subject(s)
Adult , Female , Humans , Male , Depression , Korea , Negotiating , Smartphone
14.
Annals of Pediatric Endocrinology & Metabolism ; : 149-154, 2016.
Article in English | WPRIM | ID: wpr-139036

ABSTRACT

PURPOSE: This study investigated the prevalence and risk factors associated with vitamin D deficiency in children. METHODS: We analyzed the medical records of 330 patients from the age of 6 to 12, who visited the endocrinology clinic of the Department of Pediatrics at Pusan National University Hospital, from September, 2013 to May, 2014. According to their serum 25-hydroxyvitamin D (25(OH)D) levels, the patients were grouped into either the deficiency group (25(OH)D<20 ng/mL), or the sufficiency group (25(OH)D≥20 ng/mL). The differences between the 2 groups were compared. RESULTS: There were 195 patients (59.1%) who had vitamin D deficiency. Their mean serum 25(OH)D level was 14.86±3.20 ng/mL. The differences in sex, age, and pubertal status between the 2 groups were not statistically significant. Weight standard deviation score (SDS), and body mass index SDS, were significantly higher in the vitamin D deficiency group (P=0.002 for each), compared to the sufficiency group. Compared with Autumn, both Spring (odds ratio [OR], 9.7; 95% confidence interval [CI], 4.3–22.0), and Winter (OR, 5.9; 95% CI, 3.5–10.0), were risk factors for vitamin D deficiency. In multiple logistic regression analysis, only seasonal differences have been confirmed to have an effect on vitamin D deficiency. CONCLUSION: Vitamin D deficiency in children aged 6 to 12 years is very common. Spring and Winter are the most important risk factors for vitamin D deficiency. We suggest that it is necessary to supplement the guideline for the vitamin D intake according to our situation.


Subject(s)
Child , Humans , Body Mass Index , Endocrinology , Logistic Models , Medical Records , Pediatrics , Prevalence , Risk Factors , Seasons , Vitamin D Deficiency , Vitamin D , Vitamins
15.
Annals of Pediatric Endocrinology & Metabolism ; : 149-154, 2016.
Article in English | WPRIM | ID: wpr-139033

ABSTRACT

PURPOSE: This study investigated the prevalence and risk factors associated with vitamin D deficiency in children. METHODS: We analyzed the medical records of 330 patients from the age of 6 to 12, who visited the endocrinology clinic of the Department of Pediatrics at Pusan National University Hospital, from September, 2013 to May, 2014. According to their serum 25-hydroxyvitamin D (25(OH)D) levels, the patients were grouped into either the deficiency group (25(OH)D<20 ng/mL), or the sufficiency group (25(OH)D≥20 ng/mL). The differences between the 2 groups were compared. RESULTS: There were 195 patients (59.1%) who had vitamin D deficiency. Their mean serum 25(OH)D level was 14.86±3.20 ng/mL. The differences in sex, age, and pubertal status between the 2 groups were not statistically significant. Weight standard deviation score (SDS), and body mass index SDS, were significantly higher in the vitamin D deficiency group (P=0.002 for each), compared to the sufficiency group. Compared with Autumn, both Spring (odds ratio [OR], 9.7; 95% confidence interval [CI], 4.3–22.0), and Winter (OR, 5.9; 95% CI, 3.5–10.0), were risk factors for vitamin D deficiency. In multiple logistic regression analysis, only seasonal differences have been confirmed to have an effect on vitamin D deficiency. CONCLUSION: Vitamin D deficiency in children aged 6 to 12 years is very common. Spring and Winter are the most important risk factors for vitamin D deficiency. We suggest that it is necessary to supplement the guideline for the vitamin D intake according to our situation.


Subject(s)
Child , Humans , Body Mass Index , Endocrinology , Logistic Models , Medical Records , Pediatrics , Prevalence , Risk Factors , Seasons , Vitamin D Deficiency , Vitamin D , Vitamins
16.
Annals of Pediatric Endocrinology & Metabolism ; : 206-212, 2015.
Article in English | WPRIM | ID: wpr-96139

ABSTRACT

PURPOSE: This study investigated the incidence trends and associated factors of type 1 (T1DM) and type 2 diabetes mellitus (T2DM) in children and adolescents under 15 years of age in Busan and Gyeongnam, Korea from 2001 to 2010. METHODS: Medical records of newly diagnosed diabetes patients (n=328; 160 males, 168 females) were collected in questionnaire form from 5 tertiary and 42 general hospitals in Busan and Gyeongnam. RESULTS: The average crude incidence rate of T1DM and T2DM was 2.01/100,000 (95% confidence interval [CI], 1.76-2.28) and 0.75/100,000 (95% CI, 0.60-0.92), respectively. The incidence rate ratio (IRR) of T1DM was 1.31 (95% CI, 1.01-1.69), and that of T2DM was 1.97 (95% CI, 1.25-3.11) in the latter half-decade (2006 to 2010) compared to the early half-decade (2001 to 2005). There were gradually increasing incidence trends in both T1DM and T2DM over the 10-year period (P for trend: T1DM, 0.0009; T2DM, <0.0001). Age-specific IRR was highest in the 10- to 14-year-old group, regardless of diabetes type. In particular, a rapid increase in incidence of T2DM occurred in the 10- to 14-year-old group. IRR for females was 1.07 (95% CI, 0.83-1.38) for T1DM and 1.56 (95% CI, 1.01-2.41) for T2DM. IRR for Busan (urban) was 1.41 (95% CI, 1.09-1.83) for T1DM and 1.49 (95% CI, 0.96-2.30) for T2DM. CONCLUSION: T1DM and T2DM incidence both increased over time in youth under age 15 living in Busan and Gyeongnam; in particular, the incidence of T2DM in adolescents increased more rapidly.


Subject(s)
Adolescent , Child , Female , Humans , Male , Cohort Studies , Diabetes Mellitus , Diabetes Mellitus, Type 2 , Hospitals, General , Incidence , Korea , Medical Records , Retrospective Studies
17.
Annals of Pediatric Endocrinology & Metabolism ; : 162-165, 2015.
Article in English | WPRIM | ID: wpr-26213

ABSTRACT

Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female, showed short stature. Her height and weight were 108.9 cm (A (p.W164X) mutation of the SHOX gene. Accordingly, this patient was diagnosed with Leri-Weill dyschondrosteosis. Recently, many mutations have been reported in the SHOX gene. However, to date, mutation analysis of the SHOX gene for Leri-Weill dyschondrosteosis has not been reported in Korea as yet. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of the SHOX gene.


Subject(s)
Child , Female , Humans , Arm , Congenital Abnormalities , Extremities , Growth Hormone , Hand , Korea , Leg , Turner Syndrome
18.
Allergy, Asthma & Respiratory Disease ; : 358-361, 2014.
Article in Korean | WPRIM | ID: wpr-197349

ABSTRACT

PURPOSE: Eosinophilia may be associated with various primary and reactive conditions. However, studies on the cause and incidence of eosinophilia in Korean children are rare. This study aimed to evaluate the cause and incidence of eosinophilia in patients at a single university hospital. METHODS: We studied 8,285 pediatric patients under the age of 18 years who had eosinophilia at Pusan National University Hospital. Premature and newborn infants were excluded. Eosinophilia was defined as an absolute eosinophil count greater than 450/microL. Eosinophilia was categorized as mild (450-1,500/microL), moderate (1,500-5,000/microL), and severe (>5,000/microL). The underlying conditions of eosinophilia were retrospectively investigated. RESULTS: Of 8,285 patients who had a hematology profile, 497 (5.9%) were found to have eosinophilia. Of patients with eosinophilia, 333 patients (67.0%) had identifiable and possible causes. The major causes of eosinophilia were allergic diseases (61.3%), infectious diseases (19.8%), immunologic diseases (9.0%) and hemato-oncologic disease (5.1%). Immunological disease such as Idiopathic hypereosinophilic syndrome, drug induced hypersensitivity syndrome and Graft-versus-host disease was the common condition with moderate to severe eosinophilia in which eosinophil count in peripheral blood was more than 1,500/microL. CONCLUSION: The most common cause of eosinophilia was allergic disease. Immunological disease was the common condition with moderate to severe eosinophilia.


Subject(s)
Child , Humans , Infant, Newborn , Communicable Diseases , Eosinophilia , Eosinophils , Graft vs Host Disease , Hematology , Hypereosinophilic Syndrome , Hypersensitivity , Immune System Diseases , Incidence , Retrospective Studies
19.
Annals of Pediatric Endocrinology & Metabolism ; : 36-41, 2014.
Article in English | WPRIM | ID: wpr-158571

ABSTRACT

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mutations, insertions, and deletions. Recently, we encountered a 2-year-9-month-old female with sporadic hypophosphatemic rickets. She underwent osteotomy, dental abscess was evident, and there was severe bowing of the legs. A low serum phosphorus level in combination with elevated serum alkaline phosphatase activity and normal serum calcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed a splice acceptor site mutation, c.934-1G>T (IVS8-1G>T), at the intron8 and exon9 junction. To the best of our knowledge, this mutation is novel and has not been reported. The results of this study expand and improve our understanding of the clinical and molecular characteristics and the global pool of patients with sporadic hypophosphatemic rickets.


Subject(s)
Female , Humans , Abscess , Alkaline Phosphatase , Calcium , Codon, Nonsense , Familial Hypophosphatemic Rickets , Leg , Mutation, Missense , Osteotomy , Phosphorus , Rickets, Hypophosphatemic , RNA Splice Sites
20.
Yeungnam University Journal of Medicine ; : 90-94, 2013.
Article in English | WPRIM | ID: wpr-133301

ABSTRACT

BACKGROUND: This study was conducted to examine if basal luteinizing hormone (LH) levels could be useful for screening central precocious puberty (CPP) in girls. METHODS: A total of 90 girls under the age of 8 years were included in this study. They underwent the gonadotropin-releasing hormone (GnRH) stimulation test at Good Gang-An Hospital from March 2008 to December 2012 for evaluation of premature sexual development. Patients were classified into two groups: the pubertal response group of patients who had 5 IU/L peak LH levels in the GnRH stimulation test, and the prepubertal response group of patients who had LH levels <5 IU/L. Chronological and bone ages, height, weight, body mass index, gonadotropin response to GnRH stimulation, and basal levels of LH, follicle-stimulating hormone, and estradiol were studied in both groups. The relationship between basal LH and peak-stimulated LH was evaluated using Spearman's correlation. To determine the optimal cut-off values of basal LH levels for differentiating between two groups, the receiver operating characteristic (ROC) curves were analyzed. RESULTS: When the correlation between basal LH levels and peak LH after GnRH stimulation was analyzed in all subjects (N=90), basal LH levels had a statistically significant positive correlation with peak stimulated LH levels (rs=0.493, p<0.001). The cut-off level of optimal basal LH was 0.1 IU/L, according to the ROC curves. Its sensitivity was 73.3%, and its specificity was 77.8%. CONCLUSION: The study results showed that serum basal LH levels are useful for screening CPP in girls.


Subject(s)
Female , Humans , Body Weight , Estradiol , Follicle Stimulating Hormone , Gonadotropin-Releasing Hormone , Gonadotropins , Lutein , Luteinizing Hormone , Mass Screening , Puberty, Precocious , ROC Curve , Sexual Development
SELECTION OF CITATIONS
SEARCH DETAIL