Diagnosis and Management of Osteoporosis in Children and Adolescents / 이화의대지

Recent advances in medicine have led to an increase in the number of children and adolescents treated for various chronic diseases and cancer. Increasingly sophisticated genetic analysis techniques have also clarified some genetic factors that contribute to bone fragility. Osteoporosis, characterized by reduced bone mass and skeletal fragility, can result from primary or secondary causes that originate in childhood and adolescence, which are critical periods for bone mineral acquisition. It is essential to identify children and adolescents at risk of fractures due to osteoporosis, and early intervention is crucial. Conservative management strategies, such as treating underlying diseases, replacing deficient hormones, providing nutritional support to meet calcium and vitamin D requirements, and encouraging regular physical activity, should be prioritized. Pharmacological treatment should be initiated in a timely manner following a comprehensive bone health examination. Intravenous pamidronate therapy has been safely and effectively administered to children and adolescents, although long-term follow-up is necessary. Further investigation is needed regarding bone fragility fractures of unknown etiology and the application of new medications for pediatric use.

Listeria meningitis with rapid progression of hydrocephalus: a case of a 16-month-old girl with febrile status epilepticus as the first symptom

Listeria monocytogenes is a rare cause of bacterial meningitis, particularly beyond the neonatal period. This article describes a 16-month-old girl who presented with a new-onset febrile status epilepticus, and subsequently developed altered mentality and lethargy. L. monocytogenes was detected on a point-of-care, multiplex polymerase chain reaction using the cerebrospinal fluid. On day 3, she developed a rapidly progressive hydrocephalus. Her consciousness improved after placement of an external ventricular drain. After 3-week antibiotic therapy, she was successfully discharged without residual complications.

Screening and Management for Dyslipidemia in Korean Children and Adolescents / 이화의대지

Cardiovascular disease (CVD) is the most common cause of death worldwide, and dyslipidemia is a major risk factor. Atherosclerosis can begin in childhood and continue into adulthood, thereby contributing to CVD development. Obesity is the most common cause of dyslipidemia, and the prevalence of childhood obesity and dyslipidemia is increasing worldwide, making it a public health concern. As clinical evidence has accumulated, guidelines for dyslipidemia in children have been continuously revised since 1992. The limitations of screening tests for individuals with a family history of dyslipidemia emphasize the necessity of universal screening, and non-HDL cholesterol assessment is recommended as a screening test for dyslipidemia in children. The guidelines for dyslipidemia in Korean children and adolescents published in 2017 recommend that non-HDL cholesterol screening tests be performed in non-fasting conditions at 9–11 years and 17–21 years of age. The main purpose of this article is to describe the history and rationale of lipid screening recommendations in children and adolescents and to review the currently recommended screening methods and treatments for dyslipidemia. (Ewha Med J 2022;45(3):e4)

Relationship between growth velocity and change of levels of insulin-like growth factor-1, insulin-like growth factor binding protein-3 and, IGFBP-3 promoter polymorphism during GnRH agonist treatment

Purpose@#This study aims to investigate the effect of gonadotropin-releasing hormone agonist (GnRHa) on the growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis and to evaluate whether -202 A/C IGF binding protein-3 (IGFBP-3) promoter polymorphism affects growth velocity in females with central precocious puberty (CPP) during treatment. @*Methods@#Data was collected from 97 females younger than 9 years, diagnosed with precocious puberty and treated with GnRHa for at least 1 year at Kangdong Sacred Heart Hospital from 2014 to 2015. Their body height, weight, change in height standard deviation score (∆SDS), serum IGF-1, serum IGFBP-3, bone age, and -202 A/C IGFBP-3 promoter polymorphism were measured before and after GnRHa treatment. The interrelationships between the variables were calculated. @*Results@#During treatment, height SDS, IGF-1 SDS, IGFBP-3 SDS, and IGF-1/IGFBP-3 ratio significantly decreased. A significant correlation was observed between ∆IGF-1 SDS and ∆height SDS (r=0.405, P<0.001). The presence of the C allele was significantly correlated with IGF-1 SDS after treatment (P=0.049) and with IGFBP-3 SDS before and after treatment (P=0.012 and P=0.001), but not with ∆IGF-1 SDS, ∆IGFBP-3 SDS, ∆IGF-1/IGFBP-3 ratio, or ∆height SDS. @*Conclusion@#Growth velocity during GnRHa treatment is related to ∆IGF-1 SDS, indicating the apparent impact of GnRHa on the GH-IGF-1 axis. The -202 A/C IGFBP-3 promoter polymorphism does not affect the growth velocity of GnRHa in CPP girls.

2017 Clinical practice guidelines for dyslipidemia of Korean children and adolescents

The Committee on Dyslipidemia of Korean Pediatric and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based clinical practice guidelines for dyslipidemia in Korean children and adolescents. These guidelines were formulated with the Grading of Recommendations, which include both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. These guidelines are based on the 2011 National Heart, Lung, and Blood Institute Guidelines, which focus on the prevention of cardiovascular disease in children and draw from a comprehensive review of evidence. These guidelines contain the definition of and screening process for dyslipidemia and introduce new dietary methods: the Cardiovascular Health Integrated Lifestyle Diet (CHILD)-1, the CHILD-2-low-density lipoprotein cholesterol, and the CHILD-2-triglyceride. Potential drug therapies for dyslipidemia along with their main effects and doses were also included.

Relationship between growth velocity and change of levels of insulin-like growth factor-1, insulin-like growth factor binding protein-3 and, IGFBP-3 promoter polymorphism during GnRH agonist treatment

Purpose@#This study aims to investigate the effect of gonadotropin-releasing hormone agonist (GnRHa) on the growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis and to evaluate whether -202 A/C IGF binding protein-3 (IGFBP-3) promoter polymorphism affects growth velocity in females with central precocious puberty (CPP) during treatment. @*Methods@#Data was collected from 97 females younger than 9 years, diagnosed with precocious puberty and treated with GnRHa for at least 1 year at Kangdong Sacred Heart Hospital from 2014 to 2015. Their body height, weight, change in height standard deviation score (∆SDS), serum IGF-1, serum IGFBP-3, bone age, and -202 A/C IGFBP-3 promoter polymorphism were measured before and after GnRHa treatment. The interrelationships between the variables were calculated. @*Results@#During treatment, height SDS, IGF-1 SDS, IGFBP-3 SDS, and IGF-1/IGFBP-3 ratio significantly decreased. A significant correlation was observed between ∆IGF-1 SDS and ∆height SDS (r=0.405, P<0.001). The presence of the C allele was significantly correlated with IGF-1 SDS after treatment (P=0.049) and with IGFBP-3 SDS before and after treatment (P=0.012 and P=0.001), but not with ∆IGF-1 SDS, ∆IGFBP-3 SDS, ∆IGF-1/IGFBP-3 ratio, or ∆height SDS. @*Conclusion@#Growth velocity during GnRHa treatment is related to ∆IGF-1 SDS, indicating the apparent impact of GnRHa on the GH-IGF-1 axis. The -202 A/C IGFBP-3 promoter polymorphism does not affect the growth velocity of GnRHa in CPP girls.

2017 Clinical practice guidelines for dyslipidemia of Korean children and adolescents

The Committee on Dyslipidemia of Korean Pediatric and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based clinical practice guidelines for dyslipidemia in Korean children and adolescents. These guidelines were formulated with the Grading of Recommendations, which include both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. These guidelines are based on the 2011 National Heart, Lung, and Blood Institute Guidelines, which focus on the prevention of cardiovascular disease in children and draw from a comprehensive review of evidence. These guidelines contain the definition of and screening process for dyslipidemia and introduce new dietary methods: the Cardiovascular Health Integrated Lifestyle Diet (CHILD)-1, the CHILD-2-low-density lipoprotein cholesterol, and the CHILD-2-triglyceride. Potential drug therapies for dyslipidemia along with their main effects and doses were also included.

Effect of -202 A/C IGFBP-3 polymorphisms on growth responses in children with idiopathic short stature

Purpose@#This study evaluated the -202 A/C insulin-like growth factor binding protein 3 (IGFBP-3) promoter polymorphism as a predictor of serum IGFBP-3 concentration and growth velocity after recombinant growth hormone (rhGH) therapy in patients with idiopathic short stature (ISS). @*Methods@#Genotyping and serial measurement of clinical parameters were performed in 69 children with a confirmed diagnosis of ISS. Restriction fragment length polymorphism analysis was performed to determine the genotype at the -202 IGFBP-3 locus. Serum insulin-like growth factor 1 (IGF-1) and IGFBP-3 levels were measured at baseline and after 1 year of rhGH treatment, as were height standard deviation score and growth velocity. @*Results@#The -202 A/C IGFBP-3 genotype comprised 69.6% AA, 24.6% AC, and 5.8% CC. One year of treatment did not produce a meaningful difference in IGF-1 or IGFBP-3 levels between children in the AA group and those with at least one copy of the C allele (AC/CC group). Comparing the 2 groups after one year also revealed no significant difference in growth velocity (ΔHeight: 9.061±1.612 cm/yr in the AA group, 9.421±1.864 in the AC/CC group, P=0.419). @*Conclusion@#rhGH treatment was effective and there were no significant differences in IGF-1, IGFBP-3, or growth velocity according to genotype. Thus, -202 IGFBP-3 genotype may not be a major factor affecting individual growth responses in Korean children with ISS.

Design of the long-term observational cohort study with recombinant human growth hormone in Korean children: LG Growth Study

PURPOSE: Regarding recombinant human growth hormone (rhGH) use in the pediatric population, no long-term follow-up data are available for Korean patients. To fill in the gap of knowledge, a registry study (LG Growth Study) was initiated to assess the safety and effectiveness of four types of rhGH products in real-life settings. METHODS: A total of 4,000 children will be registered and prospectively followed up at 6-month intervals until 2 years after epiphyseal closure to collect data on treatment and adverse events, with primary interest in malignancies and growth outcomes. RESULTS: As of 22 March 2017, approximately 50% (2,024) of the target number of patients have been included in the analysis set: growth hormone deficiency, 1,297 (64.1%); idiopathic short stature, 315 (15.6%); small for gestational age, 206 (10.2%); Turner syndrome, 197 (9.7%); and chronic renal failure, 9 (0.4%). At baseline, median age (years) was 8 (interquartile range [IQR], 5–11); 52% (1,048) were boys; and the majority were at Tanner stage I (83% based on breast/external genitalia, 97% on pubic hair). Median height standard deviation score was -2.26 (IQR, -2.69 to -2.0), and median bone age delay (years) was -1.46 (IQR, -2.26 to -0.78). CONCLUSIONS: This registry study will provide the opportunity to assess the risk of malignancies as well as the general safety data in Korean pediatric patients receiving rhGH. In addition, the long-term effectiveness of rhGH and comparative data between different disease entities will provide practical insight on the standard rhGH treatment.

Tracheal Bronchus with Persistent Pulmonary Hypertension of the Newborn: A Case Report

Tracheal bronchus is an uncommon anomaly in which an ectopic bronchus originates directly from the supracarinal trachea. It is usually an asymptomatic anatomical variant incidentally found on computed tomography or bronchoscopy. However, it can present with symptoms, such as chronic cough, wheezing, atelectasis, and recurrent pneumonia. We report a case of tracheal bronchus diagnosed in the neonatal period, in which the term baby presented with respiratory distress and persistent pulmonary hypertension of the newborn after birth, but no other congenital anomaly was found on further evaluation.

Serum periostin levels and squamous cell carcinoma-related antigen levels in children with atopic dermatitis

PURPOSE: It was found that periostin and squamous cell carcinoma-related antigens (SCCAs) were strongly interleukin-13-inducible gene products. This study measures the serum periostin and SCCA levels in children suffering from atopic dermatitis (AD) and to evaluate the association between the severity of AD and their values. METHODS: Seventy AD children aged 1 month to 10 years were included in our study. Subjects were characterized as having atopic eczema (AE; n=55) or non-AE (NAE; n=15) by atopic sensitization. Serum SCCA and periostin levels were measured. RESULTS: The serum periostin levels were significantly higher in children with AE than in those with NAE (geometric mean [95% confidence interval]: 80.47 ng/mL [75.06–85.93 ng/mL] vs. 67.45 ng/mL [59.99–75.64] ng/mL, P=0.020). The serum concentrations of both SCCA1 and SCCA2 were significantly higher in children with AE than in those with NAE (geometric mean [95% confidence interval]: 1.401 [1.198–1.643] ng/mL vs. 0.969 [0.723–1.268] ng/mL, P=0.039 for SCCA1) (1.178 [0.974–1.455] ng/mL vs. 0.711 [0.540–0.994] ng/mL, P=0.025 for SCCA2). The serum periostin levels were significantly correlated with disease severity and with peripheral blood eosinophil counts. The SCCA levels were not significantly correlated with disease severity. Both SCCA1 and SCCA2 were significantly correlated with serum periostin levels and blood eosinophil counts. CONCLUSION: Serum periostin levels may be significantly correlated with disease severity and blood eosinophil counts in children with AD. Serum SCCA levels can be significantly correlated with serum periostin levels and blood eosinophil counts in children with AD.

Relationship between atopy and bronchial hyperresponsiveness to indirect stimuli in asthmatic children

PURPOSE: Both atopy and bronchial hyperresponsiveness (BHR) are characteristic features of asthma. Several BHR studies comparing groups of atopic and nonatopic asthmatics have reported conflicting results. The aim of this study was to compare BHR to indirect stimuli, such as mannitol or exercise, between atopic and nonatopic asthmatics in children. METHODS: We performed a retrospective analysis of data from 110 children with asthma, aged 6–18 years using skin prick tests, and serum total and specific IgE levels. Atopy degree was measured using the sum of graded wheal size or the sum of the allergen-specific IgE. Bronchial provocation tests (BPTs) using methacholine were performed on all subjects. BPTs using indirect simuli, including exercise and mannitol, were also performed. RESULTS: Asthma cases were classified as atopic asthma (n=83) or nonatopic asthma (n=27) from skin prick or allergen-specific IgE test results. There was no significant difference in the prevalence of BHR to mannitol or exercise between atopic and nonatopic asthmatics. Atopic asthma had a significantly lower postexercise maximum decrease in % forced expiratory volume in 1 second (FEV1) (geometric mean [95% confidence interval]: 31.9 [22.9–40.9] vs. 14.0 [9.4–18.6], P=0.015) and a methacholine PC20 (provocative concentration of methacholine inducing a 20% fall in FEV1) than nonatopic asthmatics (geometric mean [95% confidence interval]: 1.24 [0.60–1.87] ng/mL vs. 4.97 [3.47–6.47]) ng/mL, P=0.001), whereas mannitol PD15 (cumulative provocative dose causing a 15% fall in FEV1) was not significantly different between the 2 groups. CONCLUSION: There was no significant difference in the prevalence of BHR to mannitol or exercise between atopic and nonatopic asthmatics in children.

Influence of The -202 A/C insulin-like growth factor-binding protein-3 promoter polymorphism on individual variation in height in Korean girls

PURPOSE: The most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence growth hormone responsiveness and somatic growth. However, the effects of IGFBP3 promoter polymorphism on growth in children are unknown. METHODS: Restriction fragment length polymorphism-based genotyping of the -202 single nucleotide polymorphism was performed in 146 Korean girls aged between 15 and 16 years, who were selected randomly from the Seoul School Health Promotion Center. The participants were divided into 3 groups (tall, medium, and short) according to the height percentile established from normal reference values for Korean children. The serum levels of insulin-like growth factor I (IGF-I) and IGF-binding protein-3 (IGFBP-3) were then compared according to genotype. RESULTS: The genotype distribution in the participants was 79 AA (54.1%), 60 AC (41.1%), and 7 CC (4.8%). The C allele frequency at the -202 IGFBP3 position was 25.4% in this group. The mean serum IGFBP-3 concentration in girls with the AA genotype was higher than that in girls with the AC genotype in the medium (P=0.047) and short (P=0.035) groups, respectively. There was no difference in the IGF-I to IGFBP-3 molar ratio between the AA and AC genotype groups (P=0.161). CONCLUSION: In conclusion, the -202 polymorphism in the IGFBP3 promoter region is assumed to affect the serum concentration of IGFBP-3 in children as well as in adults. However, it is unclear whether this affects physical development according to the concentration of IGFBP-3.

The different effects of gonadotropin-releasing hormone agonist therapy on body mass index and growth between normal-weight and overweight girls with central precocious puberty

PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on body mass index (BMI) are controversial in girls with central precocious puberty (CPP). We therefore evaluated auxological parameters during GnRHa therapy in patients with CPP, specifically focusing on changes in BMI. METHODS: Seventy-seven girls with idiopathic CPP who underwent GnRHa therapy were retrospectively recruited. We investigated BMI changes during the treatment period after stratifying them according to baseline BMI status as follows: normal (BMI percentile of <85th) and overweight groups (BMI percentile of ≥85th). RESULTS: The incidence of overweight/obesity (40.3%/23.4%) was very high in the girls with CPP. In the overall study population, no significant BMI change was observed during the GnRHa treatment period. However, when stratified according to baseline BMI status, the normal-weight group showed a significant increase in BMI-standard deviation score (SDS), whereas the overweight group showed no change in BMI-SDS. Baseline BMI-SDS was an independent predictor of changes in BMI during the GnRHa treatment period. Changes in weight-SDS were similar, but changes in height-SDS were significantly greater in the overweight group than in the normal-weight group, which explains the observed difference in BMI-SDS. CONCLUSION: Our results demonstrate that the difference in the pattern of BMI changes among our CPP patients suggests that delayed puberty induced by GnRHa treatment may have different effects on linear growth according to baseline body composition. This study underscores the importance of individualized lifestyle intervention in CPP children.

Drug reaction with eosinophilia and systemic symptom induced in a 9-year-old boy

The drug reaction with eosinophilia and systemic symptom (DRESS) is a severe adverse drug-induced reaction. Acetaminophen is extensively used as an over-the-counter drug as well as a medical therapeutic. In spite of its frequent use, drug eruptions related to DRESS caused by acetaminophen are rare. This case report describes a 9-year-old boy who experienced fever and maculopapular skin rashes after taking acetaminophen. Leukocytosis with marked eosinophilia and slightly elevated levels of liver enzymes were observed. Symptoms resolved after withdrawal of acetaminophen, followed by intravenous methylprednisolone administration. The diagnosis of DRESS induced by acetaminophen was confirmed by an oral challenge test after 2 months. No allergic reactions to ibuprofen were observed.

Behavioral and intelligence outcome in 8- to 16-year-old born small for gestational age / 소아과

PURPOSE: We investigated behavioral problems, attention problems, and cognitive function in children and adolescents born small for gestational age (SGA). METHODS: Forty-six SGA children born at term and 46 appropriate for gestational age (AGA) children born at term were compared. Psychiatric symptoms were examined with reference to the Korean-Child Behavior Checklist, Korean-Youth Self Report, and Attention Deficit Hyperactivity Disorder Rating Scale (ADHD-RS). Cognitive function was estimated using the Wechsler Intelligence Scale. Sociodemographic data were recorded from interviews. RESULTS: SGA children had high scores on delinquent behavior, aggressive behavior, and the externalizing scale, and they also showed a propensity for anxiety and depression. The SGA group had a higher mean ADHD-RS score than the AGA group (10.52±8.10 vs.9.93±7.23), but the difference was not significant. The SGA group had a significantly lower verbal intelligence quotient (IQ) than the AGA group, but the mean scores of both groups were within normal limits. CONCLUSION: This study indicates marked behavioral problems, such as delinquency, aggressiveness, and anxiety and depression, as well as low verbal IQ in the SGA group than in the AGA group. Even in cases in which these symptoms are not severe, early detection and proper treatment can help these children adapt to society.

The impact of obesity on hyperandrogenemia in Korean girls

PURPOSE: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention. The aims of this study were to investigate the presence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese (OB) girls. METHODS: We analyzed 91 girls aged 6–17 years (prepuberty, n=54; puberty, n=37). Each girl was classified as being either normal weight (NW) or OB. Anthropometric measurements were obtained and blood test was performed early in the morning after at least 8 hours of fasting to measure glucose, insulin, total testosterone, sex hormone-binding globulin, dehydroepiandrosterone sulfate (DHEAS), luteinizing hormone (LH), follicular-stimulating hormone, estradiol, and progesterone. RESULTS: The plasma levels of free testosterone (FT) and DHEAS were markedly higher in OB girls compared to NW girls in puberty (FT, P=0.009; DHEAS, P=0.046) but not in prepuberty (FT, P=0.183; DHEAS, P=0.052). Hyperinsulinemia and high homeostasis model assessment of insulin resistance (HOMA-IR) values were found regardless of pubertal status in OB girls. The significant related factor to HA in puberty was the body mass index Z-score (P=0.003). But HOMA-IR, LH, and progesterone levels were not relevant to HA in pubertal girls. CONCLUSION: OB prepubertal girls did not show HA in the present study but they should be regularly monitored because they already had hyperinsulinemia. OB pubertal girls had significant HA and hyperinsulinemia, and obesity per se was the most important factor for HA.

The impact of obesity on hyperandrogenemia in Korean girls

PURPOSE: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention. The aims of this study were to investigate the presence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese (OB) girls. METHODS: We analyzed 91 girls aged 6–17 years (prepuberty, n=54; puberty, n=37). Each girl was classified as being either normal weight (NW) or OB. Anthropometric measurements were obtained and blood test was performed early in the morning after at least 8 hours of fasting to measure glucose, insulin, total testosterone, sex hormone-binding globulin, dehydroepiandrosterone sulfate (DHEAS), luteinizing hormone (LH), follicular-stimulating hormone, estradiol, and progesterone. RESULTS: The plasma levels of free testosterone (FT) and DHEAS were markedly higher in OB girls compared to NW girls in puberty (FT, P=0.009; DHEAS, P=0.046) but not in prepuberty (FT, P=0.183; DHEAS, P=0.052). Hyperinsulinemia and high homeostasis model assessment of insulin resistance (HOMA-IR) values were found regardless of pubertal status in OB girls. The significant related factor to HA in puberty was the body mass index Z-score (P=0.003). But HOMA-IR, LH, and progesterone levels were not relevant to HA in pubertal girls. CONCLUSION: OB prepubertal girls did not show HA in the present study but they should be regularly monitored because they already had hyperinsulinemia. OB pubertal girls had significant HA and hyperinsulinemia, and obesity per se was the most important factor for HA.

Component-resolved diagnosis using microarray for diagnosing hypersensitivity to raw fruits in birch pollen sensitized children

PURPOSE: Recently, component-resolved diagnosis (CRD) using microarray technology has been introduced to the field of clinical allergy. This study was aimed to investigate the clinical usefulness of microarray-based IgE detection for diagnosing clinical raw fruit allergy in birch pollen-sensitized children. METHODS: Thirty-one children with allergic disease who had been sensitized to pollen were studied. A pollen-sensitized patient was defined as having an allergen-specific history with concomitant positive skin-prick tests (SPTs) to natural allergen extracts or positive allergen-specific IgE. All subjects underwent SPTs for pollen and fruit. In all subjects, specific IgE to pollen and fruit were measured by ImmunoCAP. Specific IgE antibodies to allergen components were determined by a customized allergen microarray (ISAC). RESULTS: Thirteen of the 31 patients (41.9%) had a history of fruit hypersensitivity with positive SPTs. Measuring IgE to allergen components by ISAC, all the 13 patients with fruit hypersensitivity were positive to at least one of Mal d 1, Pru p 1, Pru p 3, Act d 8, and Act d 2 compared to 12 of the 13 patients (92.3%) who had at least 1 positive IgE to fruits (apple, peach, and kiwi) using ImmunoCAP. The sensitivity of ISAC microarray was 100.0% for the diagnosis of fruit hypersensitivity, but its specificity was 27.7% (5/18). The sensitivity of ImmunoCAP was 92.3%, and its specificity was 83.3%. CONCLUSION: The sensitivity of allergen components tested using microarray for the diagnosis of clinical fruit hypersensitivity in children with pollen allergy was high; however, its specificity was low.

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.