The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.
Diagnosis ; Endocrine System Diseases ; Endocrinology ; Genetic Testing ; Genetic Variation ; Genetics ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans

BACKGROUND/AIMS: Due to recent increases in the disease burden of diabetes mellitus, the Health Insurance Review and Assessment Service (HIRA) of Korea implemented a quality assessment of the treatment of diabetes to improve patient care. The present study was conducted to identify any changes after the implementation of the diabetes quality assessment (DQA). METHODS: The present study evaluated eight quality assessment indicators that were proposed by the HIRA in all patients with diabetes who visited a university hospital in Korea between 2009 and 2014. The indicators were statistically compared according to the characteristics of the subjects. RESULTS: There were several significant differences in the indicators among the subjects according to their demographic characteristics. Female patients had a higher continuity of treatment (COT) than that of male patients, and the insulin-treated group had a higher COT than that of the non-treated group, as well as a higher rate of undergoing the diabetes complication tests (DCTs). Patients between 40 and 80 years of age had the highest COT, while patients under 40 years of age had the lowest COT but the highest rate of taking the DCTs. Patients receiving treatment from an endocrinologist exhibited higher numbers of DCTs performed but displayed lower proportions for the prescription indicators. CONCLUSIONS: The present analysis of the DQA findings revealed that endocrinologists combine prevention and management of diabetes complications with measures for glycemic control. Thus, the effective management of diabetes likely entails systematic joint treatment regimens that involve an endocrinologist.
Diabetes Complications ; Diabetes Mellitus ; Endocrinology ; Female ; Humans ; Insurance, Health ; Joints ; Korea* ; Male ; Patient Care ; Prescriptions ; Quality Improvement ; Quality of Health Care

No abstract available.
Endocrinology ; Metabolism

Methylphenidate (MPH) is the most preferred drug for treatment of the attention deficit hyperactivity disorder (ADHD). Here, we aimed to discuss the possible effects and mechanisms of MPH on precocious puberty (PP) via a case series with seven children who had normal body mass index. In this case series we evaluated seven children with ADHD, who had received MPH for at least 6 months (0.5 mg/kg/dose three times a day, maximum 60 mg) and admitted to Department of Pediatric Endocrinology with PP symptoms. The mean age was 8.16 years. Basal hormonal levels (luteinizing hormone [LH], follicle stimulating hormone, and estrogen/testosterone) were within normal range. Results of LH-releasing hormone stimulation tests demonstrated central pubertal responses. Glutamine, dopamine and noradrenaline are most important excitatory neurotransmitters that have a role at the beginning of puberty. The effect of MPH, cumulating dopamine and noradrenaline in the synaptic gap could be associated with the acceleration of puberty with the excitatory effect of dopamine’s gonadotropin-releasing hormone (GnRH) release, excitatory effect of noradrenaline’s GnRH release and the disappearance of GnRH receptor expression suppressor effect on prolactin disinhibitory effect.
Acceleration ; Adolescent ; Attention Deficit Disorder with Hyperactivity ; Body Mass Index ; Child ; Dopamine ; Endocrinology ; Follicle Stimulating Hormone ; Glutamine ; Gonadotropin-Releasing Hormone ; Humans ; Methylphenidate ; Neurotransmitter Agents ; Norepinephrine ; Prolactin ; Puberty ; Puberty, Precocious ; Receptors, LHRH ; Reference Values

No abstract available.
Endocrinology ; Metabolism

No abstract available.
Endocrinology ; Metabolism

BACKGROUND: Past decades of division have led to substantial differences in medical environments between South and North Korea. However, little is known about North Korea's medical status and research field, especially regarding endocrinology. In this study, we report the characteristics of North Korea's articles regarding endocrine-related diseases. METHODS: Among the nine medical journals, articles published in Internal Medicine between 2006 and 2015 were reviewed. A total of 2,092 articles were included; among them, 96 articles were associated with endocrinology. We analyzed these articles according to the disease categories they focused on and evaluated their features. RESULTS: Articles related to diabetes mellitus accounted for 55.2% (n=53) and those to thyroid disease accounted for 28.1% (n=27). Other disease categories, including adrenal gland (n=1), pituitary gland (n=1), and osteoporosis (n=3), comprised minor portions. Regarding diabetes mellitus, more than half the articles (n=33) focused on treatment and complications. Experimental studies were conducted with old hypoglycemic drugs or natural substances for the treatment of hyperglycemia. Regarding thyroid disease, articles related to hyperthyroidism were the most common (51.9%, n=14), followed by thyroid nodule/cancer (18.5%, n=5). Unique article features were short length, no figures, and less than five references. CONCLUSION: North Korea's endocrinology articles mainly focused on diabetes mellitus and thyroid disease. Persistent studies have been carried out in North Korea with dedication despite the poor medical environment. We hope that this study will be the beginning of mutual medical exchange and collaboration between North and South Korea.
Adrenal Glands ; Cooperative Behavior ; Democratic People's Republic of Korea ; Diabetes Mellitus ; Endocrine System Diseases* ; Endocrinology ; Hope ; Hyperglycemia ; Hyperthyroidism ; Hypoglycemic Agents ; Internal Medicine ; Korea ; Osteoporosis ; Pituitary Gland ; Thyroid Diseases ; Thyroid Gland

No abstract available.
Endocrinology* ; Metabolism*

BACKGROUND: Polycystic ovarian syndrome (PCOS) is one of the most common endocrinopathies among reproductive-age women. Its metabolic features often overlap with those associated with metabolic syndrome (MS) and insulin resistance syndrome (IRS). The objective of this study was to determine the prevalence and predictors of MS and IRS in infertile Vietnamese women with PCOS. METHODS: A cross-sectional study was conducted at a tertiary fertility centre at Hue University Hospital from June 2016 to November 2017. A total of 441 infertile women diagnosed with PCOS based on the revised 2003 Rotterdam consensus criteria were enrolled. MS and IRS were defined based on the National Heart, Lung, and Blood Institute/American Heart Association Adult Treatment Panel III 2005 and American College of Endocrinology IRS 2003 criteria, respectively. Complete clinical and biochemical measurements of 318 women were available for analysis. Independent predictors of MS and IRS were identified using multivariate logistic regression. RESULTS: The overall prevalence of MS and IRS in women with PCOS was 10.4% and 27.0%, respectively. We identified older age (>30 years) and obesity as independent predictors of MS and IRS. Elevated anti-Müllerian hormone levels increased the risk of IRS, but not that of MS. CONCLUSION: MS and IRS are prevalent disorders among infertile Vietnamese women with PCOS. PCOS is not solely a reproductive problem. Screening and early intervention for MS and/or IRS based on anthropometric, metabolic, and reproductive hormone risk factors should be an integral part of fertility care.
Adult ; Asian Continental Ancestry Group ; Consensus ; Cross-Sectional Studies* ; Early Intervention (Education) ; Endocrinology ; Female ; Fertility ; Heart ; Humans ; Infertility ; Insulin Resistance* ; Insulin* ; Logistic Models ; Lung ; Mass Screening ; Obesity ; Polycystic Ovary Syndrome* ; Prevalence ; Risk Factors ; Vietnam*

No abstract available.
Endocrinology* ; Metabolism* ; Practice Guidelines as Topic*