2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents

The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022 clinical practice guidelines for central precocious puberty in Korean children and adolescents. These guidelines provide the grade of recommendations, which includes both the strength of recommendations and the level of evidence. In the absence of sufficient evidence, recommendations are based on expert opinion. These guidelines have been revised and supplement the previous guidelines "Clinical Guidelines for Precocious Puberty 2011," and are drawn from a comprehensive review of the latest domestic and international research and the grade of recommendation appropriate to the domestic situation. This review summarizes the newly revised guidelines into 8 key questions and 27 recommendations and consists of 4 sections: screening, diagnosis, treatment, and long-term outcome of central precocious puberty.

Prevalence of Type 2 Diabetes Mellitus among Korean Children, Adolescents, and Adults Younger than 30 Years: Changes from 2002 to 2016

Background@#Despite the importance of and social concern regarding prevention of diabetes at younger ages, limited data are available. This study sought to analyze changes in the prevalence of type 2 diabetes mellitus (T2DM) in Koreans younger than 30 years according to sex, age, and level of income. @*Methods@#The dataset analyzed in this study was derived from health insurance claims recorded in the National Health Insurance Service (NHIS) database. Participants’ level of income was categorized as low (quintile 1, <20% of insurance premium) or others (quintile 2–5). @*Results@#In males and females, the prevalence of T2DM per 10,000 people steadily increased from 2.57 in 2002 to 11.41 in 2016, and from 1.96 in 2002 to 8.63 in 2016. The prevalence of T2DM in girls was higher in the age group of 5 to 14 years. Even though the prevalence was higher among those older than 20 years, the increase had started earlier, in the early 2000s, in younger age group. Adolescents aged 10 to 19 years in low-income families showed a remarkable increase in prevalence of T2DM, especially in boys. @*Conclusion@#The prevalence of T2DM in young Koreans increased more than 4.4-fold from 2002 to 2016, and the increase started in the early 2000s in younger age groups and in low-income families. This is the first study to examine the trend in prevalence of T2DM in children, adolescents, and young adults in Korea. Future studies and collaborations with social support systems to prevent T2DM at an early age group should be performed.

Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems.Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF-1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT ). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

Comparison of Initial Presentation of Pediatric Diabetes Before and During the Coronavirus Disease 2019Pandemic Era

Background@#Hospital visitation has become challenging during the coronavirus disease 2019 pandemic because of quarantine measures and fear of infection. Consequently, newly diagnosed patients may present with more severe diseases during the pandemic. The present study analyzed the differences in the initial clinical presentations of newly diagnosed patients with type 1 diabetes (T1D) and type 2 diabetes (T2D), comparing pre-pandemic and pandemic periods. @*Methods@#Newly diagnosed patients with T1D or T2D and aged < 18 years during 2018–2020 were included in the study. Data were collected retrospectively from four academic centers in Gyeonggi-do, South Korea. Initial clinical data were compared between the pre-pandemic (2018–2019) and pandemic (2020) periods. @*Results@#In the pre-pandemic and pandemic periods, 99 patients (41 T1D and 58 T2D patients) and 84 patients (51 T1D and 33 T2D patients) were identified, respectively. During the pandemic, the proportion of diabetic ketoacidosis (DKA) cases increased compared to the pre-pandemic period (21.2% during 2018–2019 vs. 38.1% in 2020; P = 0.012). In the prepandemic and pandemic periods, initial pH was 7.32 ± 0.14 and 7.27 ± 0.15, respectively (P = 0.040), and HbA1c values were 11.18 ± 2.46% and 12.42 ± 2.87%, respectively (P = 0.002). During the pandemic, there was an increased risk of DKA in patients with T1D (odds ratio, 2.42; 95% confidence interval, 1.04–5.62; P = 0.040). @*Conclusion@#During the pandemic, the proportion of DKA in newly diagnosed patients with T1D increased and clinical parameters showed a deteriorating pattern. Increased awareness of pediatric diabetes, especially DKA, could facilitate visit to the hospital for an early diagnosis; thus, reducing the number of DKA cases during the pandemic era.

Frequency of Self-Monitoring of Blood Glucose during the School Day Is Associated with the Optimal Glycemic Control among Korean Adolescents with Type 1 Diabetes

BACKGROUND: This study aimed to evaluate the relationship between the frequency of self-monitoring of blood glucose (SMBG) and glycosylated hemoglobin (HbA1c) levels among Korean adolescents with type 1 diabetes mellitus (T1DM). Factors affecting the SMBG frequency were analyzed in order to improve their glycemic control. METHODS: Sixty-one adolescents aged 13 to 18 years with T1DM were included from one tertiary center. Clinical and biochemical variables were recorded. Factors associated with SMBG frequency were assessed using structured self-reported questionnaires. RESULTS: Average total daily SMBG frequency was 3.8±2.1 and frequency during the school day was 1.3±1.2. The mean HbA1c level was 8.6%±1.4%. As the daily SMBG frequency increased, HbA1c levels declined (P=0.001). The adjusted odds of achieving the target HbA1c in participants who performed daily SMBG ≥5 significantly increased 9.87 folds (95% confidence interval [CI], 1.58 to 61.70) compared with those performed SMBG four times a day. In the subjects whose SMBG frequency < 1/day during the school day, an 80% reduction in the adjusted odds ratio 0.2 (95% CI, 0.05 to 0.86) showed compared to the group with performing two SMBG measurements in the school setting. The number of SMBG testing performed at school was significantly high for individuals assisted by their friends (P=0.031) and for those who did SMBG in the classrooms (P=0.039). CONCLUSION: Higher SMBG frequency was significantly associated with lower HbA1c in Korean adolescents with T1DM. It would be necessary to establish the school environments that can facilitate adequate glycemic control, including frequent SMBG.

A survey of the domestic epidemiological characteristics and clinical manifestations of pertussis

PURPOSE: This report describes the results of a survey of the characteristics of pertussis in children from a single institution and compares it to data from the Korea Centers of Disease Control (KCDC). METHODS: We retrospectively evaluated the medical records of 17 and 6 patients diagnosed with pertussis and parapertussis, respectively, at Soonchunhyang University Bucheon Hospital from January 2005 to January 2017. RESULTS: Of the 17 patients with pertussis, 9 were under 1 year of age (52.9%), 3 were aged between 1 and 10 years (17.6%), and 5 were over 10 years of age (29.4%). Seven patients (41.2%) had never received diphtheria-tetanus-acellular pertussis vaccines, of which 5 were infants below 2 months of age and 2 were 10 years old and lived in China. Four patients showed the initial symptoms of cough in China. The sources of infection were the parents (2 cases) and the siblings (8 cases). All patients showed prolonged severe cough and the average duration of cough was 26 days. Severe symptoms, including dyspnea, cyanosis, apnea, and seizures, were observed in the children under 2 months of age. According to the recent 10-year KCDC data, the highest rate of pertussis diagnosis was noted in infants (47.8%), followed by adolescents (18.7%). Six patients with parapertussis also presented with prolonged severe cough without any other severe symptoms. Lymphocytosis was not found, unlike the patients with pertussis. CONCLUSION: The possibility of pertussis and parapertussis should be considered among patients with prolonged severe cough, especially in infants and adolescents.

Small for gestational age and obesity related comorbidities

Infant born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature and metabolic alterations in later life. The result of SGA followed by rapid weight gain during early postnatal life has been associated with increased long-term risks for central obesity, insulin resistance, impaired glucose tolerance, type 2 diabetes, hypertension, increased fat mass, and cardiovascular disease. We should carefully monitor their weight during infancy and childhood to prevent excessive rates of weight gain. ‘Healthy catch up growth’ may decreased the risk of obesity-related comorbidities in SGA. Establishing the optimal growth patterns in SGA to minimize short- and long-term risks is important, and further studies will be needed. This review discusses recent studies concentrating on obesity-related morbidities in SGA infants that may provide insight into growth monitoring.

Clinical Manifestations, Gene Analysis of Patients with 3-Methylcrotonyl-CoA Carboxylase Deficiency

OBJECTIVE: 3-Methylcrotonyl CoA carboxylase deficiency (3MCCD) is classified as organic acid disease due to leucine catabolism. It is among the most common inborn errors of metabolism identified on newborn screening test using tandem mass spectrometry. There is a broad spectrum of clinical presentations. 3-Methylcrotonyl CoA carboxylase converts 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA using biotin as a coenzyme in mitochondria. Restricting protein diets and supplementing carnitine, glycine, and biotin are known treatments. We reported this study to find out clinical symptoms, type of gene mutation, and effect of treatment. METHODS: This study was based on retrospective data of patients with 3MCCD in Soonchunhyang University Seoul Hospital and Soonchunhyang University Bucheon Hospital between April 2009 to August 2016. RESULTS: All 10 infants were born term infants and had no symptoms. During the neonatal period, abnormalities were detected in the new born screening test using tandem mass spectrometry, 3-hydroxyisovalerylcarnitine was increased. 3-Methylcrotonylglycine (3MCG) and 3-hydroxyisovalreric acid (3HIVA) were examined in urine organic acid assay. The results showed that 3MCG was increased in all 10 children. Except for three of the 10 children, 3HIVA was increased. Genetic tests were performed on all 10 children. MCCC1 gene mutations were detected in four patients and MCCC2 mutations were detected in six patients. After diagnosis, all children were recommended leucine-restricted diets, and seven of the 10 patients started to feed on leucine free formula for the treatment of 3MCCD. CONCLUSION: According to our data, all patients has no symptoms and are shown normal development. There were no clinical symptoms or changes in prognosis according to gene mutation type.

Measles outbreaks in the Kyeongin area of the Republic of Korea, 2013–2014: A single-center experience in a country of measles elimination

Objective To identify the source of infection and determine the clinical features and laboratory finding of measles infection. Methods In 27 measles patients, except for 3 adult patients, the rest of 24 pediatric measles cases were analyzed with regard to age, sex, immunization status, transmission routes and molecular genotyping of measles virus. Eighteen measles patients who admitted in isolation ward were set apart to investigate clinical findings and its correlation with laboratory characteristics. Retrospective analysis of cases was conducted in this study. Results Of the 24 pediatric patients, 23 (95.8%) had not received any measles-containing vaccine (MCV). Sixteen of the patients (66.7%) were aged <12 months. The suspicious index case of a girl aged 34 months was not vaccinated with MCV1 and got measles after a trip to Philippines, and molecular genotype was revealed as B3. Measles outbreaks in the community such as a restaurant were followed by this one imported case. According to analysis of 18 patients admitted in isolation ward, the median level of C-reactive protein (CRP) was 0.38 mg/dL and that of lactate dehydrogenase (LDH) was 1200 IU/L. All of the 18 patients had LDH levels above the normal range. Age correlated with CRP (ρ = 0.528, P = 0.024) and LDH (ρ = 0.501, P = 0.034). The duration of fever was correlated with the duration of fever before rash (ρ = 0.898, P < 0.01). The duration of hospitalization was correlated with CRP (ρ = 0.586, P = 0.011). The white blood cell counts were correlated with the levels of LDH (ρ = 0.505, P = 0.033), aspartate aminotransferase (ρ = 0.507, P = 0.032), and alanine aminotransferase (ρ = 0.481, P = 0.043). Conclusions Early weaning of maternally derived measles antibodies therefore vaccination of MCV1 at a young age from 9 months to 12 months should be considered in situations of early exposure. Furthermore, there is a call for consideration of scheduling an earlier age for the first dose of MMR vaccine in Europe. It is necessary for Korea to investigate the duration of the presence and quantitative analysis of maternal measles antibodies in infants and to reconsider the timing of MCV1.

Measles outbreaks in the Kyeongin area of the Republic of Korea, 2013-2014: A single-center experience in a country of measles elimination

OBJECTIVE@#To identify the source of infection and determine the clinical features and laboratory finding of measles infection.@*METHODS@#In 27 measles patients, except for 3 adult patients, the rest of 24 pediatric measles cases were analyzed with regard to age, sex, immunization status, transmission routes and molecular genotyping of measles virus. Eighteen measles patients who admitted in isolation ward were set apart to investigate clinical findings and its correlation with laboratory characteristics. Retrospective analysis of cases was conducted in this study.@*RESULTS@#Of the 24 pediatric patients, 23 (95.8%) had not received any measles-containing vaccine (MCV). Sixteen of the patients (66.7%) were aged <12 months. The suspicious index case of a girl aged 34 months was not vaccinated with MCV1 and got measles after a trip to Philippines, and molecular genotype was revealed as B3. Measles outbreaks in the community such as a restaurant were followed by this one imported case. According to analysis of 18 patients admitted in isolation ward, the median level of C-reactive protein (CRP) was 0.38 mg/dL and that of lactate dehydrogenase (LDH) was 1200 IU/L. All of the 18 patients had LDH levels above the normal range. Age correlated with CRP (ρ = 0.528, P = 0.024) and LDH (ρ = 0.501, P = 0.034). The duration of fever was correlated with the duration of fever before rash (ρ = 0.898, P < 0.01). The duration of hospitalization was correlated with CRP (ρ = 0.586, P = 0.011). The white blood cell counts were correlated with the levels of LDH (ρ = 0.505, P = 0.033), aspartate aminotransferase (ρ = 0.507, P = 0.032), and alanine aminotransferase (ρ = 0.481, P = 0.043).@*CONCLUSIONS@#Early weaning of maternally derived measles antibodies therefore vaccination of MCV1 at a young age from 9 months to 12 months should be considered in situations of early exposure. Furthermore, there is a call for consideration of scheduling an earlier age for the first dose of MMR vaccine in Europe. It is necessary for Korea to investigate the duration of the presence and quantitative analysis of maternal measles antibodies in infants and to reconsider the timing of MCV1.

Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain tumor. The brain of DS patients had a smaller volume of gray and white matter and an unbalanced cerebellum volume, indicating a smaller volume overall than normal. We report a case of a DS male patient who had an incidentally discovered neuroglial cyst in left cerebellar vermis. He visited our hospital with gait disturbance and fatigue. But, the neurologic exam was normal. To the best of our knowledge, this is the first reported case of a neuroglial cyst in a trisomy 21 patient. As the developmental mechanisms of a cyst and the choroid plexus are related, more research is needed.

Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

No abstract available.

Analysis of Influenza Related Neurologic Complications for Recent 3 Years

OBJECTIVE: Influenza infection can stimulate secretion of proinflammatory cytokine and induce neurological symptoms due to post-infection immunity reaction. This study attempts to study clinical aspects of patients with neurologic complication and their difference to other patients with no neurological complication. METHODS: From January of 2012 to May of 2014, 535 patients diagnosed to have influenza in Soonchunhyang University Bucheon Hospital were included as subjects. They were classified into two groups based on existence of neurologic complication and retrospectively analyzed of clinical features and lab results. RESULTS: Thirty (5.6%) out of 535 patients showed neurologic complication and there were no significant difference in annual incidence of neurologic complication. Despite that the patient group with neurologic complication had history of neurological disorders and high admission rate, they did not show difference in age, gender, fever duration, and influenza A infection rate as compared with no neurologic complication group. In blood test, erythrocyte sedimentation rate and C-reactive protein was significantly low in patients with neurologic complication, but white blood cell count was not significantly different between two groups. Neurological complication was mostly seizure with 25 patients. Four patients showed encephalopathy and 1 patient was diagnosed with meningitis. CONCLUSION: Five point six percent among infants infected with influenza A were accompanied with neurologic complication, but none showed long-term sequelae. There was no difference in the annual incidence and incidence of neurological complication was higher in patients with history of neurologic disorder, but there were no other risk factors.

A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

Primary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of the DAX1 Gene

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal gland caused by deletion or mutation of the dosage-sensitive sex-reversal AHC critical region on the X chromosome, gene 1 (DAX1) gene. The DAX1 gene is expressed in the adrenal cortex, the pituitary gland, the hypothalamus, the testis, and the ovary. Most affected infants present with failure to thrive, salt wasting, and hypoglycemic seizure in early life. Immediate mineralocorticoid and glucocorticoid replacement is essential. Most boys with AHC present with hypogonadotropic hypogonadism, resulting in failure to enter puberty and the need for testosterone treatment. However, a recent study revealed that the onset of puberty in boys with AHC can be variable, ranging from arrested or absent to precocious. We describe a case involving a newborn who presented with primary adrenal insufficiency due to a mutation of the DAX1 gene and was finally diagnosed with AHC.

The Association between Cerebrospinal Fluid Pleocytosis and Clinical Manifestations of Enteroviral Meningitis in Children

OBJECTIVE: Enteroviruses are major causes of aseptic meningitis in children. This study aimed to describe the clinical manifestations of enteroviral meningitis according to the presence of cerebrospinal fluid (CSF) pleocytosis, and to investigate the factors influencing the CSF pleocytosis in children with this condition. METHODS: Eighty children with enteroviral meningitis treated at Soonchunhyang University Hospitals in Seoul and Bucheon between July 2012 and August 2013 were enrolled. The patients were diagnosed by reverse transcription-polymerase chain reaction (RT-PCR), and the clinical variables were compared according to the presence of CSF pleocytosis. RESULTS: Of the 80 patients, 54 (67.5%) and 26 (32.5%) patients had and did not have CSF pleocytosis, respectively. Forty-eight (60%) patients were male, and the median age was 63 months (range, 2 to 192 months). Seventy-six (95%), 67 (83.7%), 51 (63.7), and 2 (2.5%) patients presented with fever, headache, vomiting, and seizure, respectively. Increased CSF protein and pressure were associated with CSF pleocytosis. However, age, peripheral white blood cell count, C-reactive protein, CSF glucose, CSF/serum glucose ratio, and onset-puncture time interval were not associated with the presence of CSF pleocytosis. CONCLUSION: This study demonstrated a high proportion of non-pleocytic enteroviral meningitis in children, and identified several clinical manifestations that were associated with CSF pleocytosis. The findings of this study may help us better understand the characteristics of the disease and facilitate early diagnosis and treatment of enteroviral meningitis. During the outbreak seasons of enteroviral meningitis, the importance of continuous surveillance of enteroviruses and rapid RT-PCR testing should be emphasized.

A Study of Thyroid Function in Partial Thyroxine-Binding Globulin Deficiency

OBJECTIVE: It is generally thought that thyroxine-binding globulin (TBG)-deficient individuals are euthyroid and do not require treatment. However, there have been case reports of TBG deficiency combined with hypothyroidism. The purpose of this study was to investigate the relationship between TBG deficiency and thyroid function. METHODS: We reviewed the medical records of 32 patients diagnosed with TBG deficiency between 1997 and 2008 in Soonchunhyang University Seoul Hospital. All were partial TBG deficiency. Eighteen patients had combined hypothyroidism, and 14 patients had normal thyroid function. We compared the TBG, thyroid-stimulating hormone, free thyroxine, and total triiodothyronine levels between these 2 groups. Eighteen patients with TBG deficiency with hypothyroidism started thyroxine medication and continued for 2-3 years. After, they were followed up with thyroid function tests after discontinuing medication for 4 weeks at 2-3 years of age. RESULTS: The TBG level in TBG deficiency with hypothyroidism patients was significantly lower than that in TBG deficiency with normal thyroid function (4.43+/-2.22 mg/L vs. 6.23+/-1.81 mg/L; P=0.02). The percent TBG compared with normal mean TBG level according to age in the hypothyroidism patients was also significantly lower than that of patients with normal thyroid function (13.42%+/-6.92% vs. 19.08%+/-4.87%; P=0.014). Sixteen of 18 patients diagnosed with TBG deficiency with hypothyroidism showed persistent hypothyroidism at 2-3 years of age. CONCLUSION: We conclude that TBG-deficient patients should be observed closely and undergo thyroid function testing in order not to miss hypothyroidism. More investigations of TBG deficiency and thyroid function are needed in the future.

Food Protein-Induced Enterocolitis Syndrome in a Neonate with Peripheral Epimerase Deficiency Galactosemia

Food protein-induced enterocolitis syndrome (FPIES) is a severe infantile form of non-immunoglobulin E-mediated gastrointestinal food hypersensitivity that manifests as profuse, repetitive vomiting, often with diarrhea, which leads to acute dehydration and lethargy and failure to thrive if chronic. Symptoms such as dehydration and lethargy are also observed in sepsis, viral infection, and food poisoning. It is difficult to differentiate FPIES from sepsis-like illness. The diagnosis is based on clinical criteria and/or an oral food challenge. FPIES developed in the patient with peripheral epimerase deficiency galactosemia after the use of soy formula. The change in feeding to soy formula is not required of a patient with peripheral epimerase deficiency galactosemia. Early intake of soy formula in our patient was harmful. Therefore, we think the changing the formula should be taken carefully. Another important point is the diagnosis. Late diagnosis and misdiagnosis are common, and inappropriate treatment or invasive treatment can occur.

Turner syndrome masquerading as normal early puberty

Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the X chromosome. Most well-known common features are short stature and gonadal failure. Approximately one third of girls with TS may enter spontaneous puberty, but only half those completed with menarche. However, some atypical features of TS have been described. Many studies have been conducted to verify and delineate proposed loci for genes pertaining to the TS phenotype, and correlations between karyotype and phenotype. A few rare cases of precocious puberty with TS have been described. Here we describe a case of TS with the Xp22.1 deletion presenting with short final stature, early normal onset of spontaneous puberty, and Graves' disease, without short stature during puberty.

Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test / 소아과

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.