Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.
Humans ; Deafness/genetics* ; Hearing Loss, Sensorineural/diagnosis* ; Phenotype ; Metabolic Diseases/genetics* ; Genetic Counseling

Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases, which can directly influence the detection, diagnosis, efficacy of treatment, as well as the quality of neonatal screening. In view of the lack of follow-up, full understanding, and inconsistent requirement between various agencies and personnel in China, there is an urgent need for standardization. The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion, so as to guide the follow-up work and improve its quality.
China ; Consensus ; Follow-Up Studies ; Genetic Diseases, Inborn ; diagnosis ; Humans ; Infant, Newborn ; Metabolic Diseases ; diagnosis ; genetics ; Neonatal Screening

metabolic abnormalities—such as hyperammonemia, metabolic acidosis, and ketosis—associated with complaints of vomiting, feeding difficulties, and hypotonia during the neonatal period. However, in rare late-onset cases, mild or vague symptoms make the diagnosis more challenging. Even though acute pancreatitis is relatively uncommon in children, it can occur in association with PA. We present the case of a 4-year-old child who was admitted owing to the complaint of recurrent pancreatitis and had not previously been diagnosed with having metabolic disease. During inpatient treatment for acute pancreatitis, convulsions occurred with concomitant hyperammonemia, metabolic acidosis, coagulopathy, and shock 1 week after the administration of total parenteral nutrition. He was diagnosed to have PA after a metabolic work-up and confirmed to have novel mutation by molecular genetic analysis. Because children with PA may have acute pancreatitis, although rare, vomiting and abdominal pain should raise a suspicion of acute pancreatitis. On the contrary, even among children who have never been diagnosed with a metabolic disease, if a child has recurrent pancreatitis, metabolic pancreatitis caused by organic acidemia should be considered.]]>
Abdominal Pain ; Acidosis ; Child ; Child, Preschool ; Diagnosis ; Diethylpropion ; Humans ; Hyperammonemia ; Inpatients ; Metabolic Diseases ; Methylmalonyl-CoA Decarboxylase ; Molecular Biology ; Muscle Hypotonia ; Pancreatitis ; Parenteral Nutrition, Total ; Propionic Acidemia ; Seizures ; Shock ; Vomiting

BACKGROUND: This study examined the change in the trabecular bone score (TBS), areal bone mineral density (aBMD), and osteoporosis in postmenopausal women who underwent thyrotropin (TSH)-suppressive therapy for treating papillary thyroid cancer after a total thyroidectomy procedure. METHODS: We evaluated 36 postmenopausal women who received a total thyroidectomy for papillary thyroid cancer and were undergoing TSH suppressive therapy with levothyroxine. Postmenopausal women (n=94) matched for age and body mass index were recruited as healthy controls. The aBMD and TBS of the lumbar spine were compared between dual energy X-ray absorptiometry (DXA) at baseline and at follow-up after an average of 4.92 years. RESULTS: There was no significant difference in the rate of diagnoses of osteoporosis, osteopenia, or normal bone status between the 2 groups during the baseline DXA evaluation. However, the TBS was significantly lower whereas aBMD did not show significant difference at the time of baseline DXA measurement (1st DXA, 1.343±0.098 vs. 1.372±0.06317, P < 0.001; 2nd DXA, 1.342±0.095 vs. 1.370±0.062, P < 0.001). The TBS and aBMD did not differ significantly between the initial and follow-up DXA images in both groups of TSH suppressive patients and controls. CONCLUSIONS: The average value of TBS and aBMD did not significantly change during the follow-up period. The TSH suppressive therapy was revealed as not a significant factor for the progressive deterioration of bone status during long term follow-up.
Absorptiometry, Photon ; Body Mass Index ; Bone Density ; Bone Diseases, Metabolic ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Osteoporosis ; Postmenopause ; Spine ; Thyroid Neoplasms ; Thyroidectomy ; Thyrotropin ; Thyroxine

Constipation is a common functional problem of the digestive system and may occur secondary to diet, drugs, endocrine diseases, metabolic diseases, neurological diseases, psychiatric disorders, or gastrointestinal obstruction. When there is no secondary cause, constipation is diagnosed as functional constipation. The first steps that should be taken to relieve symptoms are diet and lifestyle modifications, and if unsuccessful, laxative therapy should be initiated. If a patient does not respond to laxative therapy, diagnostic anorectal physiological tests are performed, though they are not routinely recommended. However, these tests may be considered earlier in patients strongly suspected to have a defecatory disorder. The revised guideline on the diagnosis and treatment of chronic constipation will undoubtedly aid the individualized management of chronic constipation in clinical practice.
Biofeedback, Psychology ; Constipation ; Diagnosis ; Diet ; Digestive System ; Digital Rectal Examination ; Endocrine System Diseases ; Humans ; Laxatives ; Life Style ; Metabolic Diseases

PURPOSE: Obesity is risk factor for nonalcoholic fatty liver disease (NAFLD). However, nonobese patients are also increasingly susceptible to NAFLD. The aim of this study was to compare the clinical characteristics of obese and nonobese pediatric patients with NAFLD. METHODS: We retrospectively studied 68 patients who were diagnosed with NAFLD between January 2010 and October 2016 at 10–18 years of age. Body mass index ≥95th percentile for age and sex was defined as obesity. Abdominal ultrasonography and laboratory, anthropometrics measurements were evaluated. RESULTS: Among the 68, 26 (38.2%) were nonobese patients. The ratio of male to female was 5.8:1, and the median age at diagnosis was 13 years (range, 10–17 years). Significant higher triglyceride (223.0 mg/dL vs. 145.9 mg/dL, P=0.047) and total cholesterol levels (211.6 mg/dL vs. 173.2 mg/dL, P=0.011) were shown in nonobese than obese patients. High-density lipoprotein cholesterol level < 40 mg/dL (hazard ratio [HR], 6.5; 95% confidence interval [CI], 2.13–7.10; P=0.048), total cholesterol level >200mg/dL (HR, 5.6; 95% CI, 1.23–15.31; P=0.038) and abdominal obesity (HR, 2.53; 95% CI, 1.22–4.68; P=0.013) were significant risk factors for NAFLD in nonobese patients. CONCLUSION: Nonobese patients present a substantial proportion of pediatric NAFLD cases. Significant abnormal lipid concentrations were found in nonobese and abdominal obesity was important risk factor for nonobese NAFLD.
Body Mass Index ; Cholesterol ; Diagnosis ; Female ; Humans ; Lipoproteins ; Male ; Metabolic Diseases ; Non-alcoholic Fatty Liver Disease* ; Obesity ; Obesity, Abdominal ; Pediatric Obesity ; Retrospective Studies ; Risk Factors ; Triglycerides ; Ultrasonography

PURPOSE: Newborn screening (NBS) programs are important for appropriate management of susceptible neonates to prevent serious clinical problems. Neonates admitted to neonatal intensive care units (NICU) are at a potentially high risk of false-positive results, and repetitive NBS after total parenteral nutrition is completely off results in delayed diagnosis. Here, we present the usefulness of a targeted next-generation sequencing (TNGS) panel to complement NBS for early diagnosis in high-risk neonates. MATERIALS AND METHODS: The TNGS panel covered 198 genes associated with actionable genetic and metabolic diseases that are typically included in NBS programs in Korea using tandem mass spectrometry. The panel was applied to 48 infants admitted to the NICU of Severance Children's Hospital between May 2017 and September 2017. The infants were not selected for suspected metabolic disorders. RESULTS: A total of 13 variants classified as likely pathogenic or pathogenic were detected in 11 (22.9%) neonates, including six genes (DHCR7, PCBD1, GAA, ALDOB, ATP7B, and GBA) associated with metabolic diseases not covered in NBS. One of the 48 infants was diagnosed with an isobutyl-CoA dehydrogenase deficiency, and false positive results of tandem mass screening were confirmed in two infants using the TNGS panel. CONCLUSION: The implementation of TNGS in conjunction with conventional NBS can allow for better management of and earlier diagnosis in susceptible infants, thus preventing the development of critical conditions in these sick infants.
Complement System Proteins ; Delayed Diagnosis ; Diagnosis ; Early Diagnosis ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Neonatal ; Korea ; Mass Screening ; Metabolic Diseases ; Metabolism, Inborn Errors ; Oxidoreductases ; Parenteral Nutrition, Total ; Tandem Mass Spectrometry

PURPOSE: An unresolved inflammatory state contributes to the pathogenesis of periodontal disease and metabolic syndrome (MetS). Therefore, the purpose of this study was to evaluate the role of lipoxin A4 (LXA4), a proresolving lipid mediator, in the association between periodontal disease and MetS. METHODS: Sixty-seven patients with MetS and 65 patients without MetS were included in the study. Sociodemographic information was obtained via a questionnaire, and detailed medical diagnoses were made. Periodontal parameters (plaque index [PI], gingival index [GI], probing pocket depth [PD], and clinical attachment level [CAL]) and metabolic parameters were measured, and serum LXA4 levels were determined. The associations among MetS, periodontal parameters, and serum LX levels were evaluated by adjusted multivariate linear regression analyses. RESULTS: Patients with MetS were older and had a higher body mass index than patients without MetS. Periodontal parameters (PI, GI, PD, and CAL) were higher in patients with MetS than in those without MetS. Serum LXA4 levels were higher in patients without MetS. Multivariate linear regression analysis indicated a positive association between MetS and periodontal parameters (PD and CAL). Negative associations were established between MetS and LXA4 levels, and between LXA4 and periodontal parameters (PI, PD, and CAL). CONCLUSIONS: The presence of higher values of periodontal parameters in patients with MetS and the negative relationship of LXA4 with MetS and periodontal disease may support the protective role of proresolving lipid mediators in the association between periodontal disease and MetS.
Body Mass Index ; Diagnosis ; Humans ; Inflammation ; Linear Models ; Lipoxins ; Metabolic Syndrome X ; Periodontal Diseases ; Periodontal Index

Gout is a chronic systemic metabolic disease characterized by recurrent attacks of inflammatory arthritis resulting from the precipitation of monosodium urate crystals, which has various clinical and pathological manifestations. The disease is associated with multiple comorbidities, an impaired quality of life, and a heavy economic burden. The incidence and prevalence of gout is increasing in many developed and developing countries, as in Korea. Gout is diagnosed by confirming monosodium urate crystals in the synovial fluid or affected tissue. If crystal documentation is unavailable, new gout classification criteria presented by the American College of Rheumatology and European League Against Rheumatism (ACR/EULAR) in 2015 can be applied. There are many guidelines for managing gout published in the United States, Japan, and Europe. However, there are no guidelines for the tailored management of gout for Korean patients. This review describes a new classification for the diagnosis of gout and management guidelines.
Arthritis ; Classification* ; Comorbidity ; Developing Countries ; Diagnosis ; Europe ; Gout* ; Humans ; Hyperuricemia ; Incidence ; Japan ; Korea ; Metabolic Diseases ; Prevalence ; Quality of Life ; Rheumatic Diseases ; Rheumatology ; Synovial Fluid ; United States ; Uric Acid

OBJECTIVE: This study aimed to compare the bone mineral density of male patients with alcohol dependence with that in healthy controls and to assess changes in bone density after abstinence. METHODS: Forty-four inpatients with confirmed the Diagnostic and Statistical Manual of Mental Disorders, fourth edition diagnosis of alcohol abuse and 42 controls were recruited. Bone density was determined with dual-energy X-ray absorptiometry in the lumbar spine as well as in the femoral neck, trochanter, and Ward’s triangle regions of the proximal right femur. RESULTS: There were no significant differences in age and body mass index between patients with alcohol dependence and healthy controls. In the alcohol dependence group, osteopenia and osteoporosis were found in 54.5% and 34.1% of the patients, respectively, whereas in the control group, the corresponding values were 45.2% and 11.9% (p=0.001). Although the actual bone density in the femur and the corresponding T-scores were significantly lower in the alcohol dependence group, no significant differences were found in the lumbar spine. In both groups, body mass index showed a significant correlation with bone mineral density in all areas. After 3 to 4 years of abstinence, bone density significantly increased in the lumbar and femur. CONCLUSION: We conclude that bone mineral density in patients with alcohol dependence was significantly lower than that in healthy controls, and the rates of osteopenia and osteoporosis are higher. Importantly, abstinence from alcohol increases bone density.
Absorptiometry, Photon ; Alcohol Abstinence ; Alcoholism* ; Body Mass Index ; Bone Density* ; Bone Diseases, Metabolic ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Femur ; Femur Neck ; Humans ; Inpatients ; Male* ; Osteoporosis ; Spine