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1.
Neonatal Medicine ; : 41-47, 2021.
Article in English | WPRIM | ID: wpr-902822

ABSTRACT

Neonatal diabetes mellitus can be categorized as transient, permanent, or syndromic, and approximately half of the cases are transient. We present a case involving a term newborn who showed overt progression of transient neonatal diabetes mellitus, with complete remission within 6 months. On the second day of life, the patient presented with tachypnea, hyperglycemia, and decreased serum levels of C-peptide and insulin. Continuous subcutaneous infusion of insulin and continuous glucose monitoring were well tolerated. The patient showed a normal growth pattern, with no hyperglycemic or hypoglycemic episodes at 6 months of age. As it is rare and often asymptomatic, hyperglycemia may be attributed to various factors, including intrauterine environment, perinatal stress, and diverse genetic background. Therefore, consistent blood glucose monitoring and prompt early insulin therapy are crucial for any term newborns with persistent hyperglycemia, to prevent further diabetic complications. Moreover, continuous subcutaneous insulin infusion and the utilization of continuous glucose monitoring devices are the most effective and practical management strategies.

2.
Article in English | WPRIM | ID: wpr-896903

ABSTRACT

Purpose@#The aim of this study is to evaluate the effect of body mass index (BMI) on peak serum growth hormone (GH) level after GH stimulation test in children with short stature. @*Methods@#Data were obtained from retrospective medical record reviews of those who visited the pediatric endocrine clinic at St. Vincent’s Hospital of Catholic University for short stature from January 2010 to June 2019. A total of 115 children (66 boys and 49 girls) whose height was less than the third percentile according to age and sex underwent GH stimulation testing. @*Results@#Of the 115 subjects, 47 were diagnosed with GH deficiency (GHD) and 68 were diagnosed with idiopathic short stature (ISS). In patients with GHD, weight standard deviation score (SDS) (P<0.001) and BMI SDS (P≤0.001) were higher, and free thyroxine (T4) level (P=0.012) was lower than those in the ISS group. In total subjects, peak serum GH level after GH stimulation test showed negative correlations with weight SDS (r=-0.465, P<0.001), BMI SDS (r=-0.398, P<0.001), and thyroid stimulating hormone (r=-0.248, P=0.008) and a positive correlation with free T4 (r=0.326, P<0.001). In multiple regression analysis, BMI SDS (P=0.003) was negatively associated with peak serum GH level in GH stimulation testing after adjusting for age, sex, pubertal status, and type of pharmacological stimulus. @*Conclusion@#The BMI SDS influences peak serum GH level after GH stimulation testing. We should consider BMI factors when interpreting the results of GH stimulation testing.

3.
Neonatal Medicine ; : 41-47, 2021.
Article in English | WPRIM | ID: wpr-895118

ABSTRACT

Neonatal diabetes mellitus can be categorized as transient, permanent, or syndromic, and approximately half of the cases are transient. We present a case involving a term newborn who showed overt progression of transient neonatal diabetes mellitus, with complete remission within 6 months. On the second day of life, the patient presented with tachypnea, hyperglycemia, and decreased serum levels of C-peptide and insulin. Continuous subcutaneous infusion of insulin and continuous glucose monitoring were well tolerated. The patient showed a normal growth pattern, with no hyperglycemic or hypoglycemic episodes at 6 months of age. As it is rare and often asymptomatic, hyperglycemia may be attributed to various factors, including intrauterine environment, perinatal stress, and diverse genetic background. Therefore, consistent blood glucose monitoring and prompt early insulin therapy are crucial for any term newborns with persistent hyperglycemia, to prevent further diabetic complications. Moreover, continuous subcutaneous insulin infusion and the utilization of continuous glucose monitoring devices are the most effective and practical management strategies.

4.
Article in English | WPRIM | ID: wpr-889199

ABSTRACT

Purpose@#The aim of this study is to evaluate the effect of body mass index (BMI) on peak serum growth hormone (GH) level after GH stimulation test in children with short stature. @*Methods@#Data were obtained from retrospective medical record reviews of those who visited the pediatric endocrine clinic at St. Vincent’s Hospital of Catholic University for short stature from January 2010 to June 2019. A total of 115 children (66 boys and 49 girls) whose height was less than the third percentile according to age and sex underwent GH stimulation testing. @*Results@#Of the 115 subjects, 47 were diagnosed with GH deficiency (GHD) and 68 were diagnosed with idiopathic short stature (ISS). In patients with GHD, weight standard deviation score (SDS) (P<0.001) and BMI SDS (P≤0.001) were higher, and free thyroxine (T4) level (P=0.012) was lower than those in the ISS group. In total subjects, peak serum GH level after GH stimulation test showed negative correlations with weight SDS (r=-0.465, P<0.001), BMI SDS (r=-0.398, P<0.001), and thyroid stimulating hormone (r=-0.248, P=0.008) and a positive correlation with free T4 (r=0.326, P<0.001). In multiple regression analysis, BMI SDS (P=0.003) was negatively associated with peak serum GH level in GH stimulation testing after adjusting for age, sex, pubertal status, and type of pharmacological stimulus. @*Conclusion@#The BMI SDS influences peak serum GH level after GH stimulation testing. We should consider BMI factors when interpreting the results of GH stimulation testing.

5.
Article in English | WPRIM | ID: wpr-896871

ABSTRACT

Purpose@#Childhood obesity frequently persists into adulthood and is associated with insulin resistance (IR) and increased long-term morbidity and mortality. We compared IR criteria concerning 'age-specific cutoff point' (ACOP) and ‘fixed cutoff point’ (FCOP) for the identification of IR and investigated their correlation with metabolic syndrome (MS). @*Methods@#Data were acquired from the 5th Korea National Health and Nutrition Examination Survey (2010–2011). Participants ranged from 10 to 17 years of age and underwent fasting plasma glucose, insulin concentration, and lipid panel measurements. High fasting plasma insulin levels or increased homeostatic model assessment insulin resistance (HOMA-IR) were defined as IR. We analyzed MS and IR frequencies according to FCOP or ACOP. @*Results@#Among 719 participants, 165 (22.9%) were overweight or obese based on their body mass index. We found no prevalence of MS in underweightormal weight participants and 12.7% prevalence rate in overweight or obese participants. IR according to ACOP was more closely associated with MS than IR according to FCOP. No differences were found in predicting the frequency of MS using FCOP or ACOP in both fasting plasma insulin and HOMA-IR. @*Conclusion@#The frequency of MS in participants with IR defined using ACOP and FCOP was similar. However, IR using ACOP was more closely associated with MS than IR using FCOP.

6.
Article in English | WPRIM | ID: wpr-896869

ABSTRACT

Purpose@#The discriminatory performance of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) was investigated by correlating their values with chronological age (CA), bone age (BA), and pubertal status (PS) for diagnosis of isolated growth hormone deficiency (IGHD). @*Methods@#We evaluated IGF-1 and IGFBP-3 levels in 310 short-stature subjects subdivided into 2 groups: IGHD (n=31) and non-IGHD (n=279). IGF-1 and IGFBP-3 were assayed using immune-radiometric assay and transformed into standard deviation score (SDS) according to CA, BA, and PS. @*Results@#The highest sensitivity was found in IGF-1-SDS for CA and IGFBP-3-SDS for CA (22.6% and 30.0%, respectively). The highest specificity was found in IGF-1-SDS for PS and IGFBP-3-SDS for PS (98.2% and 94.4%, respectively). Groups with the highest positive predictive values were IGF-1-SDS for BA and IGFBP-3-SDS for BA (10.9% and 5.1%, respectively). Highest negative predictive values were seen in IGF-1-SDS for CA and IGFBP-3-SDS for CA (98.4% and 98.4%, respectively). @*Conclusion@#IGF-1-SDS for CA, instead of IGF-1-SDS for BA or PS, could be used as a standard variable for IGHD screening. The sufficiently high specificity of IGF-1-SDS for PS suggests that this value is a useful tool for identification of IGHD.

7.
Article in English | WPRIM | ID: wpr-889167

ABSTRACT

Purpose@#Childhood obesity frequently persists into adulthood and is associated with insulin resistance (IR) and increased long-term morbidity and mortality. We compared IR criteria concerning 'age-specific cutoff point' (ACOP) and ‘fixed cutoff point’ (FCOP) for the identification of IR and investigated their correlation with metabolic syndrome (MS). @*Methods@#Data were acquired from the 5th Korea National Health and Nutrition Examination Survey (2010–2011). Participants ranged from 10 to 17 years of age and underwent fasting plasma glucose, insulin concentration, and lipid panel measurements. High fasting plasma insulin levels or increased homeostatic model assessment insulin resistance (HOMA-IR) were defined as IR. We analyzed MS and IR frequencies according to FCOP or ACOP. @*Results@#Among 719 participants, 165 (22.9%) were overweight or obese based on their body mass index. We found no prevalence of MS in underweightormal weight participants and 12.7% prevalence rate in overweight or obese participants. IR according to ACOP was more closely associated with MS than IR according to FCOP. No differences were found in predicting the frequency of MS using FCOP or ACOP in both fasting plasma insulin and HOMA-IR. @*Conclusion@#The frequency of MS in participants with IR defined using ACOP and FCOP was similar. However, IR using ACOP was more closely associated with MS than IR using FCOP.

8.
Article in English | WPRIM | ID: wpr-889165

ABSTRACT

Purpose@#The discriminatory performance of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) was investigated by correlating their values with chronological age (CA), bone age (BA), and pubertal status (PS) for diagnosis of isolated growth hormone deficiency (IGHD). @*Methods@#We evaluated IGF-1 and IGFBP-3 levels in 310 short-stature subjects subdivided into 2 groups: IGHD (n=31) and non-IGHD (n=279). IGF-1 and IGFBP-3 were assayed using immune-radiometric assay and transformed into standard deviation score (SDS) according to CA, BA, and PS. @*Results@#The highest sensitivity was found in IGF-1-SDS for CA and IGFBP-3-SDS for CA (22.6% and 30.0%, respectively). The highest specificity was found in IGF-1-SDS for PS and IGFBP-3-SDS for PS (98.2% and 94.4%, respectively). Groups with the highest positive predictive values were IGF-1-SDS for BA and IGFBP-3-SDS for BA (10.9% and 5.1%, respectively). Highest negative predictive values were seen in IGF-1-SDS for CA and IGFBP-3-SDS for CA (98.4% and 98.4%, respectively). @*Conclusion@#IGF-1-SDS for CA, instead of IGF-1-SDS for BA or PS, could be used as a standard variable for IGHD screening. The sufficiently high specificity of IGF-1-SDS for PS suggests that this value is a useful tool for identification of IGHD.

9.
Article | WPRIM | ID: wpr-835773

ABSTRACT

In Turner syndrome (TS), 45,X/47,XXX mosaicism is a rare genotype. Due to its low frequency, the clinical features and prognosis are not clearly known. A 10-year-old girl was diagnosed with 45,X/47,XXX mosaicism TS and presented with short stature. She did not show any other TS phenotypic features, except for short stature, and developed spontaneous puberty and menarche, although she had unilateral ovarian agenesis. She achieved a significant growth improvement following growth hormone treatment. Since 45,X/47,XXX mosaic TS shows different gonadal function from that of classic TS, it is necessary to conduct surveillance for premature ovarian insufficiency.

10.
Article | WPRIM | ID: wpr-831515

ABSTRACT

Background@#The first-year growth in response to growth hormone (GH) treatment seems to be the most important factor in determining the overall success of GH treatment. @*Methods@#Data from children (n = 345) who were in the LG Growth Study Database were used to develop a model. All subjects had been diagnosed with idiopathic growth hormone deficiency (GHD) and presented in a prepubertal state during the first year of GH treatment. @*Results@#The Δheight standard deviation score (SDS) during 1st year of GH treatment was correlated positively with weight-SDS (β = 0.304, P < 0.001), body mass index (BMI)-SDS (β = 0.443, P < 0.001), paternal height-SDS (β = 0.296, P = 0.001), MPH-SDS (β = 0.421, P < 0.001) and MPH SDS minus baseline height SDS (β = 0.099, P < 0.001) but negatively with chronological age (β = −0.294, P < 0.001), bone age (β = −0.249, P < 0.001). A prediction model of 1st year growth in response to GH treatment in prepubertal Korean children with idiopathic GHD is as follows: Δheight SDS during 1st year of GH treatment = 1.06 − 0.05 × age + 0.09 × (MPH SDS minus baseline height SDS) + 0.05 × BMI SDS. This model explained 19.6% of the variability in the response, with a standard error of 0.31. @*Conclusion@#The present model to predict first-year response to GH treatment might allow more tailored and personalized GH treatment in Korean prepubertal children with idiopathic GHD.

11.
Article in English | WPRIM | ID: wpr-719029

ABSTRACT

Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found. The patient was treated with propylthiouracil and propranolol, but hyperthyroidism was not well controlled. At 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation. Direct sequencing of the TSHR gene showed a heterozygous mutation of c.1899C>A (p.Asp633Glu) in exon 10. No mutations were discovered in any of the parents in a familial genetic study. We have reported a case of sporadic nonautoimmune congenital hyperthyroidism, by a missense mutation of the TSHR gene, for the first time in South Korea.


Subject(s)
Cesarean Section , Craniosynostoses , Emergencies , Exons , Female , Germ-Line Mutation , Humans , Hydrocephalus , Hyperthyroidism , Immunoglobulins, Thyroid-Stimulating , Iodide Peroxidase , Korea , Male , Mutation, Missense , Parents , Parturition , Pregnancy , Propranolol , Propylthiouracil , Receptors, Thyrotropin , Tachycardia , Thyroglobulin , Thyroid Function Tests , Ventriculoperitoneal Shunt
12.
Article in English | WPRIM | ID: wpr-713717

ABSTRACT

BACKGROUND: Oral glucose tolerance test (OGTT) is a traditional diagnostic tool for diabetes. Hemoglobin A1c (HbA1c) is an alternative method used in adults; however, its application in youths has been controversial. We evaluated the diagnostic performance of HbA1c and determined optimal cutoff points for detecting prediabetes and diabetes in youth. METHODS: This retrospective study included 389 obese children (217 boys, 55.8%) who had undergone simultaneous OGTT and HbA1c testing at six hospitals, Korea, between 2010 and 2016. Subjects were diagnosed with diabetes (fasting glucose ≥ 7.0 mmol/L; 2-hour glucose ≥ 11.1 mmol/L) or prediabetes (fasting glucose 5.6–6.9 mmol/L; 2-hour glucose 7.8–11.0 mmol/L). The diagnostic performance of HbA1c for prediabetes and diabetes was determined using the area under the receiver operating characteristic curve (AUC). RESULTS: At diagnosis, 197 (50.6%) subjects had normoglycemia, 121 (31.1%) had prediabetes, and 71 (18.3%) had diabetes. The kappa coefficient for agreement between OGTT and HbA1c was 0.464. The optimal HbA1c cutoff points were 5.8% (AUC, 0.795; a sensitivity of 64.1% and a specificity of 83.8%) for prediabetes and 6.2% (AUC, 0.972; a sensitivity of 91.5% and a specificity of 93.7%) for diabetes. When HbA1c (≥ 6.2%) and 2-hour glucose level were used to diagnose diabetes, 100% were detected. CONCLUSION: Pediatric criteria for HbA1c remain unclear, therefore, we recommend the combination of fasting and 2-hour glucose levels, in addition to HbA1c, in the diagnosis of childhood prediabetes and diabetes.


Subject(s)
Adolescent , Adult , Child , Diabetes Mellitus , Diagnosis , Fasting , Glucose , Glucose Tolerance Test , Humans , Korea , Methods , Prediabetic State , Retrospective Studies , ROC Curve , Sensitivity and Specificity
13.
Article in English | WPRIM | ID: wpr-716848

ABSTRACT

PURPOSE: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children. METHODS: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age was 6.3±1.4 years, with a height standard deviation score (SDS) of -0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropometric measurements, and changes in SDS for anthropometric measurements were analyzed for 1 year, and their associations with 1-year height velocity were investigated. RESULTS: The group of children with a 1-year height velocity of ≥6 cm were chronologically younger than the group with a 1-year height velocity of < 6 cm (5.9±1.3 years vs. 6.7±1.3 years, P=0.004), with a lesser increase of SDS for body mass index (BMI) over 1 year (-0.18±0.68 vs. 0.13±0.53, P=0.014). There were no differences between the 2 groups in IGF-1 SDS and IGFBP-3 SDS. Multiple linear regression showed that baseline chronological age (r=0.243, P=0.026) and height SDS (r=0.236, P=0.030) were positively associated with IGF-1 SDS. Binomial logistic regression showed that an older chronologic age at referral (odds ratio [OR], 0.68; 95% confidence interval [CI], 0.47–0.99) and an increase of BMI SDS over 1 year (OR, 0.41; 95% CI, 0.18–0.89) were associated with a decreased growth possibility of an above-average height velocity (≥6 cm/yr). CONCLUSIONS: Height velocity of normal prepubertal children is affected by an increase of BMI SDS and chronological age. Prepubertal IGF-1 SDS reflects height SDS at the time of measurement but is not associated with subsequent height velocity.


Subject(s)
Body Mass Index , Child , Humans , Insulin-Like Growth Factor Binding Protein 3 , Insulin-Like Growth Factor I , Linear Models , Logistic Models , Referral and Consultation
14.
Article in English | WPRIM | ID: wpr-719220

ABSTRACT

PURPOSE: We investigated the effect of overweight on luteinizing hormone (LH) levels after a gonadorelin stimulation test in Korean girls with idiopathic central precocious puberty (CPP). METHODS: Medical records of 234 girls diagnosed with idiopathic CPP were reviewed retrospectively. CPP was diagnosed when the peak LH levels after gonadorelin stimulation was >5.0 U/L. The enrolled girls had a peak LH level >5.0 U/L after a gonadorelin stimulation test. Selected girls were classified as normoweight (body mass index [BMI] below the 85th percentile with respect to age) and overweight (BMI greater than the 85th percentile with respect to age). RESULTS: The peak LH (8.95±2.85 U/L vs. 11.97±8.42 U/L, P < 0.01) and peak follicle-stimulating hormone (9.60±2.91 U/L vs. 11.17±7.77 U/L, P=0.04) after gonadorelin stimulation were lower in overweight girls with idiopathic CPP than in normoweight girls with idiopathic CPP. Being overweight was negatively associated with peak LH levels after gonadorelin stimulation test (odds ratio, 0.89; 95 % confidence interval, 0.81–0.98, P=0.02). CONCLUSIONS: In girls with idiopathic CPP, being overweight led to a lower LH peak after gonadorelin stimulation. Further research is needed to better understand the role of overweight on gonadotropin secretion in precocious puberty.


Subject(s)
Adolescent , Female , Follicle Stimulating Hormone , Gonadotropin-Releasing Hormone , Gonadotropins , Humans , Lutein , Luteinizing Hormone , Medical Records , Metabolic Diseases , Obesity , Overweight , Puberty , Puberty, Precocious , Retrospective Studies
15.
Article in English | WPRIM | ID: wpr-226723

ABSTRACT

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.


Subject(s)
Adult , Brain , Craniopharyngioma , Diagnosis , Dyslipidemias , Female , Growth Hormone , Humans , Hyperinsulinism , Hyperprolactinemia , Insulin , Leptin , Obesity , Osteoporosis , Parents , Parturition , Physical Examination , Pituitary Gland , Seizures
16.
Article in English | WPRIM | ID: wpr-49252

ABSTRACT

PURPOSE: This study aimed to investigate the association between skeletal maturation and adrenal androgen levels in obese children and adolescents. METHODS: Fifty-three children and adolescents (aged 7–15 years) diagnosed as obese or overweight were investigated. Anthropometric measurements, bone age (BA) determination, serum biochemical analyses, and hormonal measurements were performed. The difference between BA and chronological age (BA–CA, dBACA) was calculated and used to represent the degree of advanced skeletal maturation. RESULTS: Thirty-one subjects were classified into the obese group and 22 subjects into the overweight group. Insulin resistance as calculated by the homeostasis model assessment of insulin resistance (HOMA-IR) was significantly higher in the obese group than in the overweight group (4.03±2.20 vs. 2.86±1.11, P=0.026). The skeletal maturation of the obese group was advanced, but the dBACA did not differ between the obese and overweight groups statistically (1.43±1.35 vs. 0.91±1.15, P=0.141). Serum dehydroepiandrosterone sulfate (DHEA-S) levels were significantly higher in subjects with dBACA>1 compared to those with dBACA≤1 (104.3±62.2 vs. 59.6±61.0, P=0.014). Correlation analyses demonstrated that dBACA was positively correlated with body mass index standard deviation scores (r=0.35, P=0.010), fasting insulin (r=0.36, P=0.009), HOMA-IR (r=0.30, P=0.031), and insulin-like growth factor-binding protein-3 (r=0.331, P=0.028). In multivariate linear regression analysis, HOMA-IR (P=0.026) and serum DHEA-S (P=0.032) were positively correlated with the degree of advanced skeletal maturation. CONCLUSION: Advanced skeletal maturation is associated with increased insulin resistance and elevated DHEA-S levels in obese children and adolescents.


Subject(s)
Adolescent , Age Determination by Skeleton , Androgens , Body Mass Index , Child , Dehydroepiandrosterone Sulfate , Fasting , Homeostasis , Humans , Insulin , Insulin Resistance , Linear Models , Obesity , Overweight
17.
Article in English | WPRIM | ID: wpr-169860

ABSTRACT

Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein (Gsα). PHP type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to renal resistance to the parathyroid hormone, and is distinguished from PHP-Ia by the absence of osteodystrophic features. An 11-yr-old boy presented with poor oral intake and cramping lower limb pain after physical activity. Laboratory studies revealed hypocalcemia, hyperphosphatemia, and increased parathyroid hormone levels. The GNAS complex locus was evaluated using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Gain of methylation in the NESP55 domain and loss of methylation in the antisense (AS) transcript, XL, and A/B domains in the maternal allele were observed. Consequently, we present a case of PHP-Ib diagnosed using MS-MLPA.


Subject(s)
Alleles , Epigenomics , GTP-Binding Proteins , Humans , Hyperphosphatemia , Hypocalcemia , Lower Extremity , Male , Methylation , Motor Activity , Multiplex Polymerase Chain Reaction , Muscle Cramp , Parathyroid Hormone , Pseudohypoparathyroidism
18.
Article in English | WPRIM | ID: wpr-59858

ABSTRACT

Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence. In this report, we review the presenting features and factors related to the long-term complications in a patient with cystinosis.


Subject(s)
Adolescent , Child , Cysteamine , Cystine , Cystinosis , Diagnosis , Humans , Hypogonadism , Hypothyroidism , Korea , Leukocytes , Lysosomal Storage Diseases , Male , Photophobia , Rare Diseases , Renal Replacement Therapy
19.
Article in English | WPRIM | ID: wpr-98144

ABSTRACT

Infants born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature, and metabolic alterations in later life. Recent studies have focused on the association between birth weight (BW) and later body composition. Some reports suggest that fetal nutrition, as reflected by BW, may have an inverse programing effect on abdominal adiposity later in life. This inverse association between BW and abdominal adiposity in adults may contribute to insulin resistance. Rapid weight gain during infancy in SGA children seemed to be associated with increased fat mass rather than lean mass. Early catch-up growth after SGA birth rather than SGA itself has been noted as a cardiovascular risk factor in later life. Children who are born SGA also have a predisposition to accumulation of fat mass, particularly intra-abdominal fat. It is not yet clear whether this predisposition is due to low BW itself, rapid postnatal catch-up growth, or a combination of both. In this report, we review the published literature on central fat accumulation and metabolic consequences of being SGA, as well as the currently popular research area of SGA, including growth aspects.


Subject(s)
Adiposity , Adult , Birth Weight , Body Composition , Child , Gestational Age , Humans , Infant , Insulin Resistance , Intra-Abdominal Fat , Obesity, Abdominal , Parturition , Risk Factors , Weight Gain
20.
Article in English | WPRIM | ID: wpr-34968

ABSTRACT

PURPOSE: The purpose of this study was to investigate the relationships of physical fitness and obesity with metabolic risk factors in children and adolescents. METHODS: This cohort study was conducted in Chungju city, South Korea. Total 843 subjects were enrolled, including 193 elementary school 4th grade male (E4M), 189 elementary school 4th grade female (E4F) and 461 male-middle school students (M1M). The subjects were also classified into 2 groups by body mass index; normal weight (NW) group and overweight included obesity (OW/OB) group. Physical fitness was measured by shuttle run (cardiorespiratory fitness, CRF), sit and reach (flexibility), handgrip strength (muscular strength) and stand long jump (agility). RESULTS: The prevalence of OW/OB was respectively 33.7% (65 of 193) among E4M, 28.6% (54 of 189) among E4F, and 28.0% (129 of 461) among M1M. Hematocrit, white blood cell, triglyceride, low-density lipoprotein, insulin, homeostasis model assessment of insulin resistance, systolic and diastolic blood pressure were higher, while high-density lipoprotein were lower in the OW/OB group than in the NW group. The OW/OB group presented significantly lower CRF (P<0.01) and lower agility, but higher muscular strength compared with NW group. CRF was negatively correlated with obesity indices and metabolic risk factors. After adjustments for potential confounders, odds ratios for 4th-5th grade CRF of OW/OB compared NW in the E4M, E4F, M1M, were 7.38 (95 % CI, 3.24-16.83), 4.10 (95% CI, 1.83-9.18), 16.06 (95% CI, 8.23-31.00) (P<0.01). CONCLUSION: Our study has shown that CRF has negative correlation with OW/OB in children and adolescents of Chungju city. We suggest that improvement of CRF through regular physical activity would be an important method for reducing the metabolic risks of childhood obesity.


Subject(s)
Adolescent , Blood Pressure , Body Mass Index , Child , Cohort Studies , Female , Hematocrit , Homeostasis , Humans , Insulin , Insulin Resistance , Korea , Leukocytes , Lipoproteins , Male , Motor Activity , Obesity , Odds Ratio , Overweight , Pediatric Obesity , Physical Fitness , Prevalence , Risk Factors , Triglycerides
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