Ultrasonographic Development and Progression of a Thyroid Nodule in a Girl with TPO-Mutated Dyshormonogenesis during Levothyroxine Supplementation

Dyshormonogenesis is caused by genetic defects in thyroid hormone synthesis. The most common form is thyroid peroxidase (TPO) deficiency. Clinically variable degree of hypothyroidism and thyroid gland enlargement depend on the severity of the defect. We report 22-year-old female with congenital hypothyroidism (CH) caused by TPO deficiency. Since goitrous CH was diagnosed at 8-year-old, L-thyroxine has been supplemented. Her goiter size was fluctuated according to the compliance on the medication. After 3.5 years of medication, ultrasonography found solid nodule, which was interpreted as nodular hyperplasia pathologically. The nodule size did not change during recent 10 years except peripheral calcification. Genetic analysis using NGS for CH revealed compound heterozygous variants of c.2757del;p.(Met921Trpfs*53) and c.1580G＞T;p.(Trp527Leu) in TPO gene. The first variant inherited from asymptomatic mother is pathogenic frame-shift mutation associated with stop codon, and the second one inherited from her asymptomatic father is predicted as deleterious in bioinformatics software program. From this case, we have observed that nodular change and calcification developed from diffuse enlarged goiter in dyshormonogenetic patient. Early molecular diagnosis of dyshormonogenesis and TSH suppression is important for not developing thyroid nodules in case of childhood euthyroid goiter without thyroid autoantibodies.

Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism

Dual oxidase maturation factor 2 (DUOXA2) is necessary for the enzymatic activity of dual oxidase 2 (DUOX2) to generate hydrogen peroxide production during thyroid hormone synthesis. We describe two Korean children, who were initially suspected to have transient congenital hypothyroidism (CH), but later confirmed to have permanent CH caused by DUOXA2 mutation. Treatment with levothyroxine was discontinued after confirming thyroid-stimulating hormone (TSH) level to be below 10 μU/mL and normal thyroid scan at the first or second trial-off therapy. However, after therapy cessation, TSH elevated to more than 10 μU/mL, and goiter developed in case 2. As a result, levothyroxine was resumed. Next-generation sequencing showed compound heterozygous mutations of DUOXA2 at Y138X and Y246X in case 1 and homozygous mutations of DUOXA2 at Y246X in case 2. In this report, a longer follow-up is recommended even after treatment termination in transient CH, and genetic studies might help assess the permanence of hypothyroidism in cases of mildly elevated TSH after trial-off therapy.

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

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

The Importance of Early Recognition, Timely Management, and the Role of Healthcare Providers in Multisystem Inflammatory Syndrome in Children

In April 2020, a pediatric report of an unusual inflammatory illness associated with coronavirus disease 2019 (COVID-19) led to similar cases in Europe and North America, which was referred to as multisystem inflammatory syndrome in children (MIS-C). Herein, we describe the case of a 12-year-old boy who had a history of polymerase chain reactionconfirmed COVID-19 and developed MIS-C approximately three weeks after an initial diagnosis of COVID-19. High fever with abdominal pain mimicking appendicitis was the initial manifestation of MIS-C, which could have been easily missed if the patient's history of COVID-19 was ignored. Intravenous immunoglobulin was administered twice, 24 hours apart, five days after the onset of MIS-C, and the patient fully recovered without any obvious sequelae. Early recognition by disease awareness and prompt management are the keys to saving the lives of children affected by MIS-C.

Longitudinal follow-up to near final height of auxological changes in girls with idiopathic central precocious puberty treated with gonadotropin-releasing hormone analog and grouped by pretreatment body mass index level

PURPOSE: Reported changes in body mass index (BMI) in central precocious puberty (CPP) during and after gonadotropin-releasing hormone analog (GnRHa) treatment are inconsistent. We, therefore, investigated auxological parameters in GnRHa-treated girls with idiopathic CPP (ICPP) until attainment of near final height (NFH). METHODS: From the medical records of 59 ICPP girls who attained NFH after GnRHa therapy, auxological changes were compared between overweight (BMI≥85th percentile) and normal-weight (BMI < 85th percentile) groups. BMIs were changed into standard deviation scores (BMISDSs) for subject chronologic age (BMISDS-CA) and bone age (BMISDS-BA). RESULTS: The incidence of overweight including obesity was high at the start of therapy (35.6%). The predicted adult height (PAH) at start of therapy was significantly shorter than the midparental height (MPH), whereas PAH at end of therapy approached MPH, and NFH was greater than MPH. Height velocity (HV) in the overweight group was higher during GnRHa therapy than that in the normal-weight group, but those in the two groups were not different after therapy until NFH. Both BMISDS-CA and BMISDS-BA increased significantly during therapy, but both BMISDSs decreased significantly after therapy until NFH. At NFH, neither BMISDS was different from that at baseline. In the normal-weight group, both BMISDSs increased during therapy and were maintained until NFH. In the overweight group, neither BMISDS changed during therapy, but there was a decrease after therapy until NFH. CONCLUSIONS: The different patterns of BMISDS change during and after GnRHa therapy until NFH between the 2 groups were related to the different HV during GnRHa therapy.

Bilateral Obstructive Uropathy Caused by Congenital Bladder Diverticulum Presenting as Hypertensive Retinopathy

A congenital bladder diverticulum (CBD) is caused by inherent muscular weakness instead of obstruction of the bladder outlet. The major clinical conditions are recurrent urinary tract infection (UTI) and voiding dysfunction. This report describes a 15-year-old male adolescent who developed sudden visual disturbance resulting from hypertensive retinopathy. The cause of hypertension was bilateral obstructive uropathy caused by enlarged paraureteral bladder diverticula. After the non-functioning right kidney and ureter and the bilateral diverticula were removed, the left ureter was reimplanted in the bladder. Pathologic findings showed chronic pyelonephritis and partial loss of the bladder musculature in the diverticular wall. This observation indicates that dilated CBD can cause latent UTI, ureteral obstruction, hydronephrosis, and secondary hypertension.

Effect of growth hormone treatment on children with idiopathic short stature and idiopathic growth hormone deficiency

PURPOSE: There are inconsistencies in the results reported in a small number of previous studies into growth hormone (GH) treatment in Korean children with idiopathic short stature (ISS) and idiopathic growth hormone deficiency (IGHD). Thus, the authors retrospectively compared the effects of GH in ISS and IGHD. METHODS: From the medical records of 26 ISS and 30 IGHD children, auxological and biochemical changes including chronologic age (CA), bone age (BA), height standard deviation score (HT-SDS), predicted adult height (PAH), midparental height (MPH), insulin-like growth factor-1 (IGF-1), and insulin-like growth factor binding protein-3 (IGFBP-3) were compared. RESULTS: Before treatment, IGHD group had younger BA, lower BA/CA ratio, and lower IGF-1 level than those in the ISS group. During GH treatment, the levels of IGF-1 and IGFBP-3 were not different. Although annual BA increment was higher in IGHD group, and annual PAH-SDS increment was higher in ISS group, annual HT-SDS increments were not different. Both HT-SDS and PAH-SDS in the ISS group increased significantly until the end of the second year, and then those were not significantly different from MPH-SDS. In the IGHD group, the HT-SDS showed a significant increase till the end of the second year, and the PAH-SDS was not significantly changed at each year, but both HT-SDS and PAH-SDS were not significantly different from MPH-SDS at the end of the third year. CONCLUSION: During GH treatment, both HT-SDS and PAH-SDS approached the genetic target range of MPH-SDS after 2 years in ISS children and 3 years in IGHD children.

A 5-year follow-up visual evoked potentials and nerve conduction study in young adults with type 1 diabetes mellitus

Central nervous system impairment is common in diabetic patients, even in the early stages of the disease, and could be associated with peripheral neuropathy. The aims of this study were to prospectively investigate central nerve conduction in young adults with type 1 diabetes using pattern-reversal visual evoked potentials (PRVEP) and to determine how those results were related to clinical risk factors and the parameters of the peripheral nerve conduction study (NCS). A total of 36 type 1 diabetic patients (15 males) 5-24 years of age (mean 14.5 ± 4.7) underwent PRVEP and NCS annually for five years. For comparison, 39 healthy age and sex matched individuals (mean 14.8 ± 5.0) were evaluated as the control group. The P100 latencies of the PRVEP were prolonged at the study entry in the patients compared with the controls (p< 0.001). Significant correlations were not found between any of the parameters of PRVEP and the glycosylated hemoglobin levels; however, the changes in the parameters of the peripheral NCS were well correlated with metabolic control. The latencies and amplitudes of the P100 were not related to the majority of the parameters of the NCS. A prolonged PRVEP latency may be a sign of optic pathway dysfunction, which begins before apparent diabetic retinopathy. Poor glycemic control proved to be an important risk factor over the 5 years in terms of its relation to the development of peripheral neural pathway abnormalities. However, once central conduction was delayed, its changes were poorly related to diabetic control and the attributes of the peripheral nerve conduction study over the 5-year follow-up.

The cutoff values of indirect indices for measuring insulin resistance for metabolic syndrome in Korean children and adolescents

PURPOSE: The prevalence rates of metabolic syndrome (MetS) and percentile distribution of insulin resistance (IR) among Korean children and adolescents were investigated. The cutoff values of IR were calculated to identify high-risk MetS groups. METHODS: Data from 3,313 Korean subjects (1,756 boys and 1,557 girls, aged 10–18 years) were included from the Korean National Health and Nutrition Examination Survey conducted during 2007–2010. Three different sets of criteria for MetS were used. Indirect measures of IR were homeostasis model assessment (HOMA-IR) and triglyceride and glucose (TyG) index. The cutoff values of the HOMA-IR and TyG index were obtained from the receiver operation characteristic curves. RESULTS: According to the MetS criteria of de Ferranti el al., Cook et al., and the International Diabetes Federation, the prevalence rates in males and females were 13.9% and 12.3%, 4.6% and 3.6%, and 1.4% and 1.8%, respectively. Uses these 3 criteria, the cutoff values of the HOMA-IR and TyG index were 2.94 and 8.41, 3.29 and 8.38, and 3.54 and 8.66, respectively. The cutoff values using each of the 3 criteria approximately corresponds to the 50th–75th, 75th, and 75th–90th percentiles of normal HOMA-IR and TyG index levels. CONCLUSION: This study describes the prevalence rates of MetS in Korean children and adolescents, an index of IR, and the cutoff values for MetS with the aim of detecting high-risk groups. The usefulness of these criteria needs to be verified by further evaluation.

The cutoff values of indirect indices for measuring insulin resistance for metabolic syndrome in Korean children and adolescents

PURPOSE: The prevalence rates of metabolic syndrome (MetS) and percentile distribution of insulin resistance (IR) among Korean children and adolescents were investigated. The cutoff values of IR were calculated to identify high-risk MetS groups. METHODS: Data from 3,313 Korean subjects (1,756 boys and 1,557 girls, aged 10–18 years) were included from the Korean National Health and Nutrition Examination Survey conducted during 2007–2010. Three different sets of criteria for MetS were used. Indirect measures of IR were homeostasis model assessment (HOMA-IR) and triglyceride and glucose (TyG) index. The cutoff values of the HOMA-IR and TyG index were obtained from the receiver operation characteristic curves. RESULTS: According to the MetS criteria of de Ferranti el al., Cook et al., and the International Diabetes Federation, the prevalence rates in males and females were 13.9% and 12.3%, 4.6% and 3.6%, and 1.4% and 1.8%, respectively. Uses these 3 criteria, the cutoff values of the HOMA-IR and TyG index were 2.94 and 8.41, 3.29 and 8.38, and 3.54 and 8.66, respectively. The cutoff values using each of the 3 criteria approximately corresponds to the 50th–75th, 75th, and 75th–90th percentiles of normal HOMA-IR and TyG index levels. CONCLUSION: This study describes the prevalence rates of MetS in Korean children and adolescents, an index of IR, and the cutoff values for MetS with the aim of detecting high-risk groups. The usefulness of these criteria needs to be verified by further evaluation.

Massive pericardial effusion and short stature caused by autoimmune hypothyroidism in a 9-year-old girl

A 9-year-, 11-month-old girl was brought to the Emergency Department for sudden dyspnea caused by massive pericardial effusion. In addition to relative bradycardia despite impending cardiac tamponade, short stature, overweight, and hypercholesterolemia were clues for suspected hypothyroidism. During thyroxine supplementation, catch-up growth was incomplete by rapid skeletal maturation. The use of short-term growth hormone showed increased growth velocity. In conclusion, primary hypothyroidism should be included in the etiologic evaluation of pericardial effusion, especially when it is associated with relative bradycardia. Additional growth promoting therapy should be considered for incomplete catch-up growth in prolonged hypothyroidism during thyroxine supplementation.

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.

Peripheral Nerve Abnormalities in Patients with Newly Diagnosed Type I and II Diabetes Mellitus / 대한임상신경생리학회지

BACKGROUND: Early detection of neuropathy may prevent further progression of this complication in the diabetic patients. The purpose of this study was to evaluate the prevalence of early neuropathic complication in patients with newly diagnosed type 1 and type 2 diabetes. METHODS: Nerve conduction studies (median, ulnar, posterior tibial, peroneal, and sural nerves) were performed for 49 type 1 (27 males, mean 14.1+/-7.5 years) and 40 type 2 (27 males, 42.0+/-14.1 years) diabetic patients at onset of diabetes. Children with age at onset under 4 years and adults over 55 years were excluded to eliminate the aging effect and the influence of obstructive arteriosclerosis. Neuropathy was defined as abnormal nerve conduction findings in two or more nerves including the sural nerve. RESULTS: Mean HbA1c level was 12.6+/-3.3% for type 1 and 10.5+/-2.9% for type 2 diabetes. The prevalence of neuropathy was 12.2% for type 1, and 35.0% for type 2 diabetes, respectively. There were significant trends in the prevalence of neuropathy with increasing age (p<0.05). The effect of the mean level of glycosylated hemoglobin on the prevalence of polyneuropathy at onset of diabetes was borderline (p=0.0532). Neither sex of the patients nor the type of diabetes affected the neurophysiologic abnormalities at the diagnosis. CONCLUSIONS: Even in a population with diabetes at the diagnosis, the prevalence of subclinical neuropathy was not low. Neuropathy has been significantly associated with increasing age indicating the possibility of longer duration of undetected diabetes among them, especially in type 2 diabetes.

Different clinical courses of central precocious girls according to their age at presentation and treatment

PURPOSE: The progressivity of central precocious puberty (CPP) seems to depend on the age at presentation. We evaluated the clinical courses of CPP girls according to their age at initiation of treatment. METHODS: One hundred thirty five girls with CPP diagnosed between Jan. 2003 and Dec. 2009 and regularly followed for more than one year were included. They were treated with gonadotropin-releasing hormone agonists (GnRHa) every four weeks. Subjects were divided into two groups based on whether they were treated before (Group I, N=20) or after seven years of age (Group II, N=115). We compared the anthropometric parameters, the predicted adult height (PAH), predicted treatment periods, and the laboratory findings of the two groups every six months. RESULTS: Out of 135 CPP patients, 123 were idiopathic and twelve had neurogenic problems. At the baseline, patients' average bone age (BA) was significantly older than chronologic age (CA) and PAH was significantly shorter than target height (TH). BA and CA were significantly older in group II, but the BA/CA ratio was significantly greater in group I. The average treatment period required to overcome the CA-BA difference was 4.64 yr (group I vs II; 7.98 yr vs 4.24 yr, P < 0.01), and the period needed to overcome PAH-TH difference was 2.49 yr (group I vs II; 4.37 yr vs 2.32 yr, P < 0.01). CONCLUSION: Among the girls with CPP, the younger age group had more advanced BA than CA, and needed significantly longer treatment periods to overcome the BA-CA gap and PAH-TH gaps.

Refractory rickets caused by mild distal renal tubular acidosis

Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mild deterioration in renal function. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets. We describe a case of distal RTA with nephrocalcinosis during follow-up of rickets in a patient who presented with clinical manifestations of short stature, failure to thrive, recurrent vomiting, dehydration, and irritability.

The Clinical Course and Prognostic Factors to Medical Treatment of Graves' Disease in Children and Adolescents

PURPOSE: The aim of this study was to observe clinical course including remission rate during antithyroid medication for Graves' disease in children and adolescents, and to evaluate factors related to remission. METHODS: This is a retrospective study of 42 patients (8 males), who were diagnosed at pediatric endocrine clinic in Chungbuk National University Hospital from January 1994 to December 2009. They were treated with antithyroid drugs only and were followed for at least 2 years. Their average age at diagnosis was 11.5 +/- 3.4 years, and average follow-up period was 4.5 +/- 2.2 years. RESULTS: At diagnosis, 64.3% of the subjects were in puberty, 87.8% showed goiter which was significantly prevalent in females (P < 0.05), and 38.9% manifested exophthalmos. Thyrotropin receptor antibody was positive in all the patients, whereas anti-microsomal antibody was positive in 88.1% and anti-thyroglobulin antibody in 81.0%. Twenty two (52.4%) patients remitted with 4.3 +/- 2.5 years' medication, and the others were continuously medicated at the last follow-up of 4.8 +/- 1.8 years. By quartile estimate for the remission time, 25 percentile was remitted at 3.7 years, 50 percentile at 7.1 years, and 75 percentile at 9.2 years. Among the factors for the remission, initial thyroid stimulating hormone level was significantly lower in non-remission group compared to remission group (P < 0.05). CONCLUSION: In pediatric Graves' disease treated only antithyroid drugs, the time required for remission is so long that it is necessary to establish fixed medication period and to choose definitive treatment modality as in adult Graves' disease through multicenter clinical study.

Tuberculous Pericarditis Presenting as Multiple Free Floating Masses in Pericardial Effusion

Pericarditis is a rare manifestation of tuberculosis (Tb) in children. A 14-yr-old Korean boy presented with cardiac tamponade during treatment of pulmonary tuberculosis. He developed worsening anemia and persistent fever in spite of anti-tuberculosis medications. Echocardiography found free floating multiple discoid masses in the pericardial effusion. The masses and exudates were removed by pericardiostomy. The masses were composed of pink, amorphous meshwork of threads admixed with degenerated red blood cells and leukocytes with numerous acid-fast bacilli, which were confirmed as Mycobacterium species by polymerase chain reaction. The persistent fever and anemia were controlled after pericardiostomy. This is the report of a unique manifestation of Tb pericarditis as free floating masses in the effusion with impending tamponade.

Zinc status and growth of Korean infants fed human milk, casein-based, or soy-based formula: three-year longitudinal study

To evaluate the effect of feeding methods on growth and zinc nutritional status of infants early in life, we monitored from birth to 36 months in 51 infants who were exclusively fed human milk (HM, n = 20), casein-based formula (CBF, n = 12), or soy-based formula (SBF, n = 19) during the first five months of life. Zinc status was assessed by analyzing serum zinc concentrations and zinc intakes. Zinc contents in HM and formulas were measured. Zinc intake was estimated by weighing infants before and after feeding in the HM group and by collecting formula-intake records in the CBF and SBF groups. After solid foods were introduced, all foods consumed were also included to estimate zinc intake. The growth of infants in all groups was similar to that established for normal Korean infants. Human milk zinc concentrations declined as lactation progressed. Zinc concentrations in all formulas tested in this study were higher than HM and were also higher than those claimed by the manufacturers. During the first twelve months, mean serum zinc concentrations of infants were similar in all groups, although infants in the HM group consistently had the lowest zinc intake among the groups, and the overall zinc intake in infants fed SBF was highest. This finding could be explained by the different zinc bioavailability of HM and formulas. In conclusion, infants fed HM, CBF or SBF has normal growth up to three years of age, although HM contained the lowest zinc concentration followed by CBF, then SBF.

Clinical Characteristics of Nutritional Rickets in Korean Infants / 대한소아내분비학회지

PURPOSE: The prevalence of nutritional rickets in developed countries appears to be rising. We studied cases of recently diagnosed nutritional rickets in Korean infants to investigate the clinical characteristics of this condition. METHODS: We studied the medical records of 15 patients (10.5 +/- 10.5 mo) with clinical and subclinical nutritional rickets diagnosed between January 2007 and June 2009 and grouped them according to their clinical presentation. Group I (n = 6, 4.5 +/- 5.2 mo) included patients who were asymptomatic and had increased levels of serum alkaline phosphatase (ALP); group II (n = 5, 21.7 +/- 10.1 mo), patients with skeletal abnormalities; and group III (n = 4, 5.7 +/- 4.5 mo), patients with hypocalcemic seizure. These groups were compared for age and serum levels of calcium, phosphorus, ALP, 25-hydroxy vitamin D (25OHD), and parathyroid hormone (PTH). RESULTS: The serum 25OHD level was 16.5 +/- 9.9 ng/mL. All but 2 patients were being breast-fed or had been breast-fed for more than 6 months. Infants in group I were relatively young, with 2 small for gestational age (SGA) infants, and showed the highest serum levels of ALP with low serum levels of 25OHD (15.3 +/- 6.2 ng/mL), but mild radiologic changes. Group II infants (including 4 with bow leg and 1 with short stature) were significantly older (P = 0.018) with relatively higher levels of 25OHD (23.0 +/- 11.6 ng/mL) but worse radiologic findings as compared to other groups. Group III infants were relatively young including 2 SGA and had the lowest 25OHD levels (10.3 +/- 9.4 ng/mL) and significant hypocalcemia (P = 0.016, 5.7 +/- 4.5 mg/dL), but mild radiologic changes. The fact that group I and III were very young implies that not only were these infants supplied with inadequate amounts of vitamin D, but many began life with small stores of vitamin D as a result of maternal vitamin D deficiency. CONCLUSION: Nutritional rickets manifested in 3 different clinical forms, and vitamin D should be supplemented in breast-feeding infants as well as pregnant women.

Clinical Characteristics of Nutritional Rickets in Korean Infants / 대한소아내분비학회지

PURPOSE: The prevalence of nutritional rickets in developed countries appears to be rising. We studied cases of recently diagnosed nutritional rickets in Korean infants to investigate the clinical characteristics of this condition. METHODS: We studied the medical records of 15 patients (10.5 +/- 10.5 mo) with clinical and subclinical nutritional rickets diagnosed between January 2007 and June 2009 and grouped them according to their clinical presentation. Group I (n = 6, 4.5 +/- 5.2 mo) included patients who were asymptomatic and had increased levels of serum alkaline phosphatase (ALP); group II (n = 5, 21.7 +/- 10.1 mo), patients with skeletal abnormalities; and group III (n = 4, 5.7 +/- 4.5 mo), patients with hypocalcemic seizure. These groups were compared for age and serum levels of calcium, phosphorus, ALP, 25-hydroxy vitamin D (25OHD), and parathyroid hormone (PTH). RESULTS: The serum 25OHD level was 16.5 +/- 9.9 ng/mL. All but 2 patients were being breast-fed or had been breast-fed for more than 6 months. Infants in group I were relatively young, with 2 small for gestational age (SGA) infants, and showed the highest serum levels of ALP with low serum levels of 25OHD (15.3 +/- 6.2 ng/mL), but mild radiologic changes. Group II infants (including 4 with bow leg and 1 with short stature) were significantly older (P = 0.018) with relatively higher levels of 25OHD (23.0 +/- 11.6 ng/mL) but worse radiologic findings as compared to other groups. Group III infants were relatively young including 2 SGA and had the lowest 25OHD levels (10.3 +/- 9.4 ng/mL) and significant hypocalcemia (P = 0.016, 5.7 +/- 4.5 mg/dL), but mild radiologic changes. The fact that group I and III were very young implies that not only were these infants supplied with inadequate amounts of vitamin D, but many began life with small stores of vitamin D as a result of maternal vitamin D deficiency. CONCLUSION: Nutritional rickets manifested in 3 different clinical forms, and vitamin D should be supplemented in breast-feeding infants as well as pregnant women.