Growth represents a sentinel for general health state in children and adolescent. Linear growth in children and adolescent is a complex process influenced by numerous factors including genetic, prenatal, postnatal, and environmental factors. When children less than 2 standard deviation score below the average height for age and sex, they are considered as short stature. Accurate measurement of body profile and determination of height velocity over time are fundamental step. Whether the growth pattern is appropriate or deviated from standardized growth chart is a key point in approaching to short stature in children. Evaluation includes a detailed past medical and family history, physical examination, laboratory test and radiologic evaluation. Recent advances in genetic approaches are allowing for improved diagnosis for idiopathic short stature and various genetic syndromes. Growth hormone is the main treatment option for short stature. It is generally safe but has potential side effects. Individualized growth hormone treatment should be initiated under consideration of both efficacy and safety by pediatric endocrinologists. Early diagnosis and prompt initiation of treatment result in a good prognosis.This article reviews an overview of the diagnostic approach to children and adolescents with short stature, and summarizes etiologies and growth hormone treatment.

Children born small for gestational age (SGA) have several life-long consequences. Previous epidemiological studies investigated from childhood to adulthood reported that a number of chronic diseases originate in the prenatal period. With the emerging era of obesity epidemic, more concerns are related to being obese than being short-statured in SGA children. The exact mechanisms are uncertain; however, growth hormone-insulin-like growth factor axis disturbance by fetal programming and accelerated postnatal weight gain contributed to central adiposity in SGA children. In this review, we summarized the definitions and prevalence of SGA, epidemiology, and general risks of obesity in SGA children. Early interventions, before and after birth, are needed for healthy catch-up growth to prevent later obesity and related complications.
Adiposity ; Child ; Chronic Disease ; Early Intervention (Education) ; Epidemiologic Studies ; Epidemiology* ; Fetal Development ; Gestational Age* ; Humans ; Obesity* ; Parturition ; Prevalence ; Weight Gain

PURPOSE: Low vitamin D level is common in adults with diabetes mellitus (DM). We assessed vitamin D level and its associated factors in Korean youth with type 1 DM. METHODS: Type 1 DM cases (n=85) and healthy controls (n=518) aged < 20 years were included and grouped into 3 categories according to vitamin D level: deficiency ( < 20 ng/mL), insufficiency (20–30 ng/mL), or sufficiency (≥30 ng/mL). RESULTS: The mean serum vitamin D level was significantly lower (21.6±8.5 ng/mL vs. 28.0±12.0 ng/mL, P < 0.001) and vitamin D deficiency prevalence was significantly higher (48% vs. 26%, P < 0.001) in type 1 DM cases than in healthy controls. Logistic regression analysis revealed that type 1 DM cases were more likely to have vitamin D deficiency (P=0.004), independent of sex, age, and body mass index. Type 1 DM cases with vitamin D deficiency/insufficiency were mainly diagnosed in winter (November to April) (P=0.005), and the duration of diabetes was longer than in those with vitamin D sufficiency (P=0.046). However, season of diagnosis, duration of diabetes, prescribed daily insulin dose, and glycosylated hemoglobin and C-peptide levels were not associated with 25-hydroxyvitamin D (25(OH)D) level in type 1 DM cases after adjustment for other factors. CONCLUSIONS: We recommend assessment of serum 25(OH)D level in type 1 DM cases and to treatment if findings indicate insufficiency. Further studies investigating the mechanisms underlying vitamin D deficiency in youth with type 1 DM are needed.
Adolescent* ; Adult ; Body Mass Index ; C-Peptide ; Case-Control Studies ; Child* ; Diabetes Mellitus ; Diabetes Mellitus, Type 1* ; Diagnosis ; Hemoglobin A, Glycosylated ; Humans ; Insulin ; Logistic Models ; Prevalence ; Seasons ; Vitamin D ; Vitamin D Deficiency

Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature.
Acidosis ; Dehydration ; Epithelial Sodium Channels ; Failure to Thrive ; Humans ; Hyperkalemia ; Hyponatremia ; Infant, Newborn* ; Kidney ; Korea ; Male* ; Pseudohypoaldosteronism* ; Receptors, Mineralocorticoid*

Sometimes, the clinical findings and the results of the gonadotropin-releasing hormone (GnRH) stimulation test are inconsistent in girls with early breast development and bone age advancement. We aimed to investigate the factors predicting positive results of the GnRH stimulation test in girls with suspected central precocious puberty (CPP). We reviewed the records of 574 girls who developed breast budding before the age of 8 yr and underwent the GnRH stimulation test under the age of 9 yr. Positive results of the GnRH stimulated peak luteinizing hormone (LH) level were defined as 5 IU/L and over. Girls with the initial positive results (n = 375) showed accelerated growth, advanced bone age and higher serum basal LH, follicle-stimulating hormone, and estradiol levels, compared to those with the initial negative results (n = 199). Girls with the follow-up positive results (n = 64) showed accelerated growth and advanced bone age, compared to those with the follow-up negative results. In the binary logistic regression, the growth velocity ratio was the most significant predictive factor of positive results. We suggest that the rapid growth velocity is the most useful predictive factor for positive results in the GnRH stimulation test in girls with suspected precocious puberty.
Age Determination by Skeleton ; Breast/growth & development ; Child ; Estradiol/blood ; Female ; Follicle Stimulating Hormone/blood ; Follow-Up Studies ; Gonadotropin-Releasing Hormone/*analysis ; Humans ; Logistic Models ; Luteinizing Hormone/blood ; Predictive Value of Tests ; Puberty, Precocious/*diagnosis ; ROC Curve ; Retrospective Studies

PURPOSE: Gonadotropin-releasing hormone agonist (GnRHa) is known for improving final adult height in patients with central precocious puberty (CPP). This study aimed to investigate the age of menarche and near adult height in girls with CPP who had been treated with GnRHa. METHODS: In this retrospective study, we reviewed the medical records of 71 Korean girls with CPP who had started menarche or reached over 13 years of bone age after long-term GnRHa treatment. We estimated near adult height using the Bayley-Pinneau method and identified the age of menarche in girls with CPP. RESULTS: Mean chronological and bone age at menarche were 11.9+/-0.7 and 12.8+/-0.4 years, respectively. The period between menarche and the end of treatment was 14.0+/-5.6 months. Posttreatment near adult height was 163.8+/-4.7 cm, which was significantly greater than pretreatment predicted adult height (158.7+/-4.1 cm). CONCLUSION: GnRHa treatment in girls with CPP could improve final adult height and made the age of menarche close to that of the general population.
Adult* ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Medical Records ; Menarche* ; Puberty, Precocious* ; Retrospective Studies

Cavernous hemangiomas of the mediastinum are rare tumors. A 3 year and 8 month-old female patient was referred because of an abnormal chest radiograph. Chest X-ray revealed abnormal shadow occupying nearly the entire left thoracic cavity. Surgical excision was performed and pathologic diagnosis was confirmed as 15X10 cm sized cavernous hemangioma. On the eighth postoperative day, the patient was discharged without any complications and has been followed up without any problems.
Diagnosis ; Female ; Hemangioma ; Hemangioma, Cavernous* ; Humans ; Infant ; Mediastinum* ; Radiography, Thoracic ; Thoracic Cavity ; Thorax

Cavernous hemangiomas of the mediastinum are rare tumors. A 3 year and 8 month-old female patient was referred because of an abnormal chest radiograph. Chest X-ray revealed abnormal shadow occupying nearly the entire left thoracic cavity. Surgical excision was performed and pathologic diagnosis was confirmed as 15X10 cm sized cavernous hemangioma. On the eighth postoperative day, the patient was discharged without any complications and has been followed up without any problems.
Diagnosis ; Female ; Hemangioma ; Hemangioma, Cavernous* ; Humans ; Infant ; Mediastinum* ; Radiography, Thoracic ; Thoracic Cavity ; Thorax

Exposure to endocrine disrupting chemicals (EDCs), particularly during developmental periods, gives rise to a variety of adverse health outcomes. Bisphenol A (BPA) is a well-known EDC commonly found in plastic products including food and water containers, baby bottles, and metal can linings. This study investigates infant exposure to BPA and the effect of bottle-feeding on serum BPA levels in infants. Serum BPA levels in normal healthy infants 6 to 15 months of age (n=60) were evaluated by a competitive ELISA. BPA was detected in every study sample. Serum BPA levels of bottle-fed infants (n=30) were significantly higher than those of breast-fed infants (n=30) (96.58+/-102.36 vs 45.53+/-34.05 pg/mL, P=0.014). There were no significant differences in serum BPA levels between boys (n=31) and girls (n=29). No significant correlations were found between serum BPA levels and age, body weight, birth weight, and gestational age. Bottle-feeding seems to increase the risk of infant exposure to BPA. Establishment of health policies to reduce or prevent BPA exposure in infants is necessary.
Benzhydryl Compounds/*blood ; Birth Weight ; Body Weight ; Bottle Feeding ; Endocrine Disruptors/*blood ; Environmental Exposure ; Female ; Humans ; Infant ; Male ; Phenols/*blood

PURPOSE: The objective of this study was to evaluate the effect of gonadotropin releasing hormone analog (GnRHa) treatment on bone mineral density (BMD) in girls with central precocious puberty (CPP). Further we investigated the differences in the effect on BMD by using the GnRHa leuprolide-acetate and triptorelin. METHODS: Sixty-one females with CPP were enrolled in the study, the lumbar spine BMD was measured by dual energy x-ray absorptiometry before treatment, after one year (n = 61) and after two years (n = 24) of treatment. Lumbar spine BMD standard deviation scores (SDS) were compared according to chronological age (CA) and bone age (BA) for the whole group, as well as for the group A, treated with leuprolide-acetate (n = 40), and the group B, treated with triptorelin (n = 21). RESULTS: All subjects showed significant increment in BMD during treatment (P < 0.05). Lumbar spine BMD SDS for CA and BA showed no significant changes before and during treatment. Group A and group B, within each group, showed no significant changes in lumbar spine BMD SDS for CA and BA during treatment. CONCLUSION: Our study suggests that lumbar spine BMD was not impaired in girls treated with GnRHa for CPP and both leuprolide-acetate and triptorelin showed comparable effects on lumbar spine BMD during treatment.
Absorptiometry, Photon ; Bone Density ; Female ; Gonadotropin-Releasing Hormone ; Humans ; Leuprolide ; Piperazines ; Puberty, Precocious ; Spine ; Triptorelin Pamoate