Diagnosis and Management of Osteoporosis in Children and Adolescents / 이화의대지

Recent advances in medicine have led to an increase in the number of children and adolescents treated for various chronic diseases and cancer. Increasingly sophisticated genetic analysis techniques have also clarified some genetic factors that contribute to bone fragility. Osteoporosis, characterized by reduced bone mass and skeletal fragility, can result from primary or secondary causes that originate in childhood and adolescence, which are critical periods for bone mineral acquisition. It is essential to identify children and adolescents at risk of fractures due to osteoporosis, and early intervention is crucial. Conservative management strategies, such as treating underlying diseases, replacing deficient hormones, providing nutritional support to meet calcium and vitamin D requirements, and encouraging regular physical activity, should be prioritized. Pharmacological treatment should be initiated in a timely manner following a comprehensive bone health examination. Intravenous pamidronate therapy has been safely and effectively administered to children and adolescents, although long-term follow-up is necessary. Further investigation is needed regarding bone fragility fractures of unknown etiology and the application of new medications for pediatric use.

Gonadal Function in Female Adolescent and Young Adult Survivors of Childhood Cancer / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#Childhood cancer survivors (CCSs) are at risk for premature ovarian insufficiency (POI). The aim of this study is to evaluate ovarian function and associated health outcomes in female adolescent and young adult survivors of childhood cancer. @*Materials and Methods@#Sixty-nine female CCSs were enrolled. Medical records of CCSs were retrospectively reviewed. The subjects were categorized into three groups according to follicular stimulating hormone (FSH) levels (cutoff, 12, 40 IU/L). Anti-müllerian hormone (AMH) level less than 1 ng/mL was considered low AMH level. @*Results@#Of 69 subjects, 14 (20.3%) had POI and 14 (20.3%) had FSH levels between 12 and 40 IU/L. Forty-one of 69 (59.4%) had normal FSH levels. Pelvic irradiation and stem cell transplantation (SCT) were more frequently performed in subjects with POI (p=0.001 and p < 0.001). AMH levels were remarkably low when FSH levels were over 12 IU/L (p < 0.001). In multivariate analysis, cyclophosphamide equivalent dose and SCT were significant treatment factors for developing low AMH levels (p=0.005 and p=0.002, respectively). Total, low-density lipoprotein cholesterol and triglyceride were significantly different in three groups according to FSH levels (p=0.047, p=0.030, and p=0.045). Z-score of femur neck bone mineral density was significantly reduced when FSH levels were increased (p=0.011). @*Conclusion@#Gonadal dysfunction is common in CCSs. Gonadal function was associated with a few treatment factors known to increase the risk of POI. Regular monitoring of gonadal function is needed for better health outcomes.

Incidence Patterns and Outcomes of Ewing Sarcoma in South Korea (1999-2017): A Retrospective Analysis Using Korea Central Cancer Registry Data / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#Due to low incidence, epidemiologic data of Ewing sarcoma in the Asian population are scarce. We aimed to examine the incidence pattern and outcome of patients with Ewing sarcoma in the Republic of Korea. @*Materials and Methods@#Data of patients with Ewing sarcoma diagnosed between 1999 and 2017 were obtained from the Korea Central Cancer Registry (KCCR). Incidence, clinical characteristics, and survival rates were analyzed and compared between different age groups. @*Results@#There were 788 cases (459 males, 329 females), with a median age at diagnosis of 20 years. The age-standardized rate of Ewing sarcoma was 1.01. The number of cases and incidence rates in each age group were as follows: children, 1.6; adolescents and young adults (AYA), 0.93; adults, 0.44; and elderly, 0.53. There were more male cases in children and the AYA group (p < 0.001). Extraskeletal tumors (p < 0.001), primary sites other than extremity (p=0.007), and presence of metastasis at diagnosis (p=0.031) were more frequent in the adults and elderly group. With a median survival time of 78 months, the 5-year overall survival (OS) rate of the entire cohort was 52%. Children fared best (5-year OS, 75%), and the 5-year OS of AYA patients (51%) approximated the OS of the entire cohort. A two-fold difference of 5-year OS was observed between adults and elderly patients (42% vs. 19%). On univariate and multivariate analyses, age ≥ 15 years and presence of metastasis were adverse prognostic factors. @*Conclusion@#This was the first epidemiologic study of Ewing sarcoma using the KCCR data. With a similar incidence to other Asian countries, the survival rate was slightly lower than that of Euro-American cases. Collaborative clinical studies are necessary to improve the outcome of Ewing sarcoma in low-incidence populations.

Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers / Journal of the Korean Cancer Association, 대한암학회지

Fibrolamellar hepatocellular carcinoma (FLHCC) is a rare liver cancer affecting adolescents and young adults without any pre existing liver disease. Hyperammonemic encephalopathy (HAE) is a serious paraneoplastic syndrome, and several cases of HAE have been reported in patients with FLHCC. This condition is rare; hence, there are currently no management guidelines for cancer-related HAE. Herein, we report a case of an 18-year-old man with advanced FLHCC who developed HAE during the first course of chemotherapy consisting of cisplatin, doxorubicin, 5-fluorouracil, and interferon-α. He was successfully treated with continuous venovenous hemofiltration, sodium benzoate, sodium phenylbutyrate, and amino acid supplementation for HAE. After the second course of chemotherapy, he underwent surgery, and thereafter, his ammonia levels were normal without any ammonia scavenger therapy. Treatments for HAE described here will be helpful for this rare, but serious metabolic complication of FLHCC and could partially applied to HAE related to any malignancies.

Low bone mineral density in children and adolescents with cancer

Maximizing accumulation of bone mass during childhood and adolescence is essential to attaining optimal peak bone mass. Childhood cancer survivors (CCS) have lower bone mineral density (BMD) than the general population. Chemotherapeutic agents including steroids and radiotherapy can affect BMD. Cancer itself, hormonal insufficiency, a poor nutritional state, and a deficit of physical activities during or after treatment also influence BMD in CCS, resulting in failure to achieve appropriate peak bone mass. Low BMD in childhood and adolescence can lead to osteoporosis in adult life and complications such as bone pain, bone deformity, and fractures. Thus, BMD in CCS should be monitored with appropriate intervention. Adequate intake of calcium and vitamin D and an increase in physical activity are recommended. Timely supplements of hormones are needed in some cases. Some publications have reported that bisphosphonate therapies using pamidronate or alendronate were well tolerated in CCS and helped increase BMD.

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to motor neuron degeneration. We identified an infant with SMARD1 by targeted exome sequencing from a consanguineous Syrian family having a history of recurrent infant deaths. The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. Over a period of one month, the infant showed rapid progression of distal muscular weakness with hand and foot contractures, which were suggestive of neuromuscular disease. Using targeted exome sequencing, the mutation in IGHMBP2 was confirmed, although the first report was normal. Targeted exome sequencing enabled identification of the genetic cause of recurrent mysterious deaths in the consanguineous family. Additionally, it is suggested that a detailed phenotypic description and communication between bioinformaticians and clinicians is important to reduce false negative results in exome sequencing.

Thyroxine binding globulin excess detected by neonatal screening

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. A 27-day-old newborn was brought to the hospital because of hyperthyroxinemia detected by neonatal screening. His T4 level was 18.83 µg/dL (normal range, 5.9-16.0 µg/dL). His mother had no history of any thyroid disease. His fT4 and thyroid stimulating hormone (TSH) levels were 1.99 ng/dL (normal range, 0.8-2.1 ng/dL) and 4.54 mIU/L (normal range, 0.5-6.5 mIU/L), respectively. His serum total triiodothyronine (T3) level was 322.5 ng/dL (normal range, 105.0-245.0 ng/dL). His TBG level was 68.27 mg/L (normal range, 16.0-36.0 mg/L) at the age of 3 months. At 6 months and 12 months of age, his TBG levels were 48.77 mg/L (normal range, 16.0-36.0 mg/L) and 50.20 mg/L (normal range, 14.0-28.0 mg/L), respectively, which were 2 to 3 times higher than normal values. Hormonal studies showed consistently elevated T3 and T4 levels and upper normal levels of fT4 and free T3 with normal TSH levels. His growth and development were normal. TBG excess should be considered as a potential differential diagnosis for hyperthyroxinemia and especially high T3 levels with normal TSH concentration.

Thyroxine binding globulin excess detected by neonatal screening

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. A 27-day-old newborn was brought to the hospital because of hyperthyroxinemia detected by neonatal screening. His T4 level was 18.83 µg/dL (normal range, 5.9-16.0 µg/dL). His mother had no history of any thyroid disease. His fT4 and thyroid stimulating hormone (TSH) levels were 1.99 ng/dL (normal range, 0.8-2.1 ng/dL) and 4.54 mIU/L (normal range, 0.5-6.5 mIU/L), respectively. His serum total triiodothyronine (T3) level was 322.5 ng/dL (normal range, 105.0-245.0 ng/dL). His TBG level was 68.27 mg/L (normal range, 16.0-36.0 mg/L) at the age of 3 months. At 6 months and 12 months of age, his TBG levels were 48.77 mg/L (normal range, 16.0-36.0 mg/L) and 50.20 mg/L (normal range, 14.0-28.0 mg/L), respectively, which were 2 to 3 times higher than normal values. Hormonal studies showed consistently elevated T3 and T4 levels and upper normal levels of fT4 and free T3 with normal TSH levels. His growth and development were normal. TBG excess should be considered as a potential differential diagnosis for hyperthyroxinemia and especially high T3 levels with normal TSH concentration.

Korean Surgical Site Infection Surveillance System Report: Data Summary from July 2010 through June 2011 / 병원감염관리

BACKGROUND: A web-based surveillance of surgical-site infections (SSIs) in Korean Nosocomial Infections Surveillance System (KONIS) was performed to determine the incidence of SSIs after 15 operative procedures. METHODS: Forty-three hospitals participated in the surveillance system for 15 operative procedures. A year-round observation was carried out, and the duration of participation was shortened for 3 months unit. All data were collected using a real-time web-based reporting system. RESULTS: From July 2010 through June 2011, SSI surveillance data of 18,644 cases were collected from 43 hospitals. SSIs were found to occur in 2.10% of the total cases. The SSI rates after various surgeries were as follows: 4.49%, rectal surgery; 4.41%, colon surgery; 3.50%, gastric surgery; 3.12%, craniotomy; 1.25%, abdominal hysterectomy; 0.93%, laminectomy; 0.63%, cesarean section; 0.62%, gallbladder surgery; and 0.54%, vaginal hysterectomy. The interim results of implant-related surgery are given below as SSI rates: 3.78%, ventricular shunt operation; 3.23%, coronary artery bypass graft; 2.20%, cardiac surgery; 1.31%, spinal fusion; 0.96%, knee prosthesis; and 0.88%, hip prosthesis. CONCLUSION: The SSI rate was found to be 2.10% by the KONIS 2010. The maintenance of a surveillance system for SSI is very important, as it will help in decreasing SSIs via feedback to the involved surgeons and infection-control personnel.

Characterization of a Vancomycin-resistant Enterococcus faecium Outbreak Caused by 2 Genetically Different Clones at a Neonatal Intensive Care Unit

In July 2010, we identified an outbreak of vancomycin-resistant enterococci (VRE) in our 26-bed neonatal intensive care unit. We performed an epidemiological investigation after clinical cultures of 2 neonates were positive for VRE. Identification, susceptibility testing, and molecular characterization were performed. Cultures of 3 surveillance stool samples of inpatients and 5 environmental samples were positive for VRE. All isolates were identified as Enterococcus faecium containing the vanA gene. Two distinct clones were identified by performing pulsed-field gel electrophoresis. The 2 clones exhibited different pulsotypes, but they represented identical Tn1546 types. Two sequence types, ST18 and ST192, were identified among all of the isolates with multilocus sequence typing. Our investigation determined that the outbreak in the neonatal intensive care unit was caused by 2 genetically different clones. The outbreak may have occurred through clonal spread and horizontal transfer of the van gene.

Epidemiological Characteristics and Scale for Needlestick Injury in Some University Hospital Workers / 대한산업의학회지

OBJECTIVES: Based on multicenter research among tertiary hospitals in Korea, it was our intention to effectively contribute to the prevention of needlestick injuries by understanding the current state of the incidence rate of needlestick injuries and the related epidemiology with respect to medical institution and worker's characteristics. METHODS: Ten hospitals were selected, with the research performed from July to September 2007. Data on cases of needlestick injuries were collected by hospital infection-controlling centers using a specifically developed website and a partially modified self-writing questionnaire based on the Exposure Prevention Information Network (EPINet). RESULTS: During the study period, a total of 327 needlestick injury cases were reported, with an incidence of 10.56 cases per 100 patient beds per year. The existence of source of infection could not be confirmed in one third of the needlestick injuries. There were 4.07 incidences per 100 employees per year. The job with the highest incidence was medical doctor interns (18.66 cases), followed by clinical laboratory workers (7.12 cases) and registered nurses (6.66 cases). CONCLUSIONS: There was no difference in number of incidences according to the number of beds. The highest number of cases occurred in the registered nurse-group, but the incidence rate per healthcare worker was the highest in the medical doctor intern-group. Therefore, it is important to conduct research to identify the risk of the incidence with respect to different risk-groups. As a result of this research, it is suggest that a protective policy is required relating to needlestick injuries, regardless of the number of beds and potential cause of infection.

Healthcare-Associated Infection Surveillance in Small and Medium Sized Hospitals / 병원감염관리

BACKGROUND: The purpose of this study is to know the healthcare-associated infection (HAI)s in small and medium sized hospitals, less than 400 beds. METHODS: We had web based surveillance for HAIs in 27 hospitals from August to October 2010. The surveillance performed in 1-2 ICUs and 1 general ward in each hospitals by CDC definition. And for the multi-drug resistant organisms (MDROs), we reviewed all of blood culture results. RESULTS: We identified 319 HAIs among 269,436 patients days. The HAIs rate was 1.18 (CI 1.05-1.32)/1,000 patient-days. Urinary tract infection was the most common HAI (52.4%) in this study followed by pneumonia (18.9%), blood-stream infections (14.2%), surgical site infection (7.9%), and others (6.6%). There were 76.5% of device associated infections in UTI, 46.7% in BSI, and 18.3% in pneumonia. The rate of HAIs in ICU was higher than that of in general ward (4.6 vs 0.9/1,000 patient-days). However, the indwelling catheter associated urinary tract infection rate was lower in ICU (2.6 vs 4.4/1,000 device days). There were no significant differences in central line-associated blood stream infection rate (1.5 vs 1.8) and ventilator-associated pneumonia rate (3.0 vs 0.0). The common microorganisms found in HAIs were Escherichia coli (19.8%), Staphylococcus aureus (13.1%), and Pseudomonas aeruginosa (12.7%). Moreover, 90.9% of S. aureus were resistant to methicillin, and 38.2% of P. aeruginosa and 44.4% of Acinetobacter baumannii were resistant to imipenem. Total of 66 MDROs were isolated from blood culture and the result shows that the MRSA was 84.6% (56 case), carbapenmen-resistant Acinetobacter spp. was 10.6% (7 case), and vancomycin-resistant enterococci was 4.6% (3 case). CONCLUSION: The characteristics of HAIs in small and medium sized hospitals will be contributed to the decision making of governance policy for infection control and to provide comparable data for these hospitals.

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia / 소아과

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal hyperplasia (CAH). A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of 17, he visited the outpatient clinic because of testicular enlargement and short stature. His right and left testicles were 10x6 cm and 7.5x4.5 cm, respectively. His height was 155.1 cm (standard deviation score [SDS], -2.90). The diagnosis of CAH due to 21 hydroxylase deficiency was confirmed by mutation analysis of CYP21A2. Histological examination of the testes showed large, polygonal, eosinophilic cells with round nuclei and prominent nucleoli, which were suggestive of TARTs. He was treated with dexamethasone for 3 weeks and tumors regressed. Subsequently, dexamethasone was replaced by prednisolone and 9alpha-fludrocortisone; thereafter, the reduced testis size has been maintained.

Korean Nosocomial Infections Surveillance System, Intensive Care Unit Module Report: Data Summary from July 2009 through June 2010 / 병원감염관리

BACKGROUND: In this report, we present the annual data of the intensive care unit (ICU) module of the Korean Nosocomial Infections Surveillance System (KONIS) from July 2009 through June 2010. METHODS: We performed a prospective surveillance of nosocomial urinary tract infections (UTIs), bloodstream infections (BSIs), and pneumonia (PNEU) at 116 ICUs in 63 hospitals by using KONIS. Nosocomial infection (NI) rates were calculated as the number of infections per 1,000 patient-days or device-days. RESULTS: We identified 3,965 NIs during the study period: 2,156 cases of UTIs (2,119 were urinary catheter-associated), 1,110 cases of BSIs (948 were central line-associated), and 699 cases of PNEU (410 were ventilator-associated). The rate of urinary catheter-associated UTIs (CAUTIs) was 4.75 cases per 1,000 device-days (95% confidence interval, 4.55-4.95), and urinary catheter utilization ratio was 0.86 (range, 0.859-0.861). The rate of central line-associated BSIs was 3.28 (range, 3.07-3.49), and the utilization ratio was 0.56 (range, 0.559-0.561). The rate of ventilator-associated PNEUs (VAPs) was 1.95 (range, 1.77-2.15), and the utilization ratio was 0.41 (range, 0.409-0.411). Although ventilator utilization ratio was lower in the hospitals with 400-699 beds than in the hospitals with 700-899 beds and more than 900 beds, the rate of VAPs were higher in the hospitals with 400-699 beds than in hospitals with 700-899 beds and more than 900 beds. The incidence of infections due to imipenem-resistant Acinetobacter baumannii increased from 43.6% to 82.5% since July 2006. CONCLUSION: The risk of acquiring VAP and CAUTI is highest in the ICUs of hospitals with 400-699 beds than that in hospitals with more beds. Imipenem-resistant A. baumannii was identified as an emerging gram-negative pathogen of nosocomial infections.

Underreporting Rate and Related Factors after Needlestick Injuries among Healthcare Workers in Small- or Medium-Sized Hospitals / 병원감염관리

BACKGROUND: This study aimed to examine the underreporting rate and related factors after needlestick injuries among healthcare workers (HCWs) in small- or medium-sized hospitals. METHODS: Convenience sampling was conducted for 1,100 HCWs in 12 small- or medium-sized hospitals with less than 500 beds. From October 1 to November 30, 2010, data were collected using self-report questionnaire that was developed by researcher. The response rate for the study was 98.3% (982 HCWs). Data were analyzed using Statistical Package for the Social Sciences (SPSS) Win 12.0. RESULTS: The reports showed that 239 HCWs (24.3%) sustained needlestick injuries within the last year. The under-reporting rate after a needlestick injury was 67.4% (161/239), and underreporting rates varied across the hospitals and ranged from 46.2% to 85.7%. The major reasons for underreporting after needlestick injuries were the assumption that no blood-borne pathogens existed in the source patient (62.8%), annoyance (17.9%), and no knowledge about the reporting procedure (6.0%). Multiple logistic regression analysis showed that the suggestion by colleagues to report the injury, the number of needlestick injuries, and the needle type were independently related to the underreporting of needlestick injuries. CONCLUSION: The underreporting rate of needlestick injuries in small- or medium-sized hospitals was similar to that in large-sized hospitals, and this finding confirmed that the suggestion by colleagues to report the injury was the most significant factor influencing the injury-report rate. Thus, creating an environment that encourages HCWs to report injuries is considered the most important method to decrease the underreporting rate of needlestick injuries in small- and medium-sized hospitals.

A Case with Transient Hyperammonemia of Newborn

Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN may have favorable long-term outcomes if it is diagnosed early and appropriately managed. However, severe hyperammonemia can develop even in newborns with THAN, which may require emergent management. Here we report a case of THAN with severe hyperammonemia during the neonatal period that was successfully treated with continuous renal replacement therapy and nitrogen-scavenging medications. Our patient went on to develop normally and has not re-experienced a hyperammonemic episode until 9 months of age without the administration of a protein restricted diet or medications.

Endocrine dysfunction after bone marrow transplantation during childhood and adolescence / 소아과

PURPOSE: Several complications can occur in patients who received bone marrow transplantation (BMT) during childhood and adolescence. This study aims to investigate endocrine dysfunctions after BMT so that better care can be provided to care for long-term survivors of BMT. METHODS: One hundred patients (61 males, 39 females) were included in this study. Clinical parameters such as initial diagnosis, age at BMT, conditioning regimen, presence of graft-versus-host disease (GVHD), growth pattern, thyroid function, and pubertal status were retrospectively reviewed to evaluate risk factors associated with endocrine dysfunction. RESULTS: Height standard deviation score (SDS) at BMT, after 1 year of BMT, and at the last visit were 0.08+/-1.04, -0.09+/-1.02, and -0.27+/-1.18, respectively (P=0.001). Height SDS significantly decreased in patients who received total body irradiation (TBI) (P=0.017). One of the patients who received TBI demonstrated growth hormone deficiency. Thirty (31.9%) of 94 patients had compensated hypothyroidism. Incidence of compensated hypothyroidism was higher among those who had GVHD (odds ratio 2.82, P=0.025). Of the 32 patients (17 males, 15 females) who were over 14 years in male and 13 years in female at the last visit, 16 (3 males, 13 females) had increased luteinizing hormone (LH) or follicle-stimulating hormone (FSH). Abnormal elevation of LH or FSH was more common in females (odds ratio 30.3, P=0.001). CONCLUSION: The most common endocrine dysfunction was ovarian insufficiency. Regular check-up for endocrine function needs to be required due to high incidence of endocrine dysfunction in patients with BMT.

Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) / 소아과

Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200??00 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.

Predictive Factors of Diabetes and Hypertension in Adult Turner Syndrome / 대한소아내분비학회지

PURPOSE: The risk of cardiovascular diseases (CVD) including hypertension, artherosclerosis and endocrinologic diseases such as thyroid disease, obesity, diabetes mellitus are elevated in adult Turner syndrome (TS). Clinical and biochemical parameters of TS patients were analyzed to investigate the predictive factors of diabetes and hypertension. METHODS: Twenty nine patients with TS were enrolled in this study. Clinical and biochemical parameters including height, weight, body mass index (BMI), blood pressure, waist and hip circumferences, lipid profile, insulin, fasting glucose, and HbA1c were retrospectively reviewed. RESULTS: Seven (24.1%) out of 29 had either impaired fasting glucose (IFG) or diabetes, 3 (10.3%) had central obesity, 5 (17.2%) had hypertriglyceridemia, 4 (13.8%) had low HDL cholesterol, 6 (20.7%) had hypertension, and 3 (10.3%) out of 29 were consistent with the criteria of MS. The waist circumference was longer in patients with either IFG or diabetes (67.1 +/- 5.4 cm vs. 79.4 +/- 8.3 cm, P = 0.009). Insulin, homeostasis model assessment-insulin resistance (HOMA-IR), and adipokine levels were not significantly different according to the presence of either IFG or diabetes. Among TS patients, BMI was higher in patients with hypertension (26.2 +/- 5.7 kg/m2 vs. 22.5 +/- 3.1 kg/m2, P = 0.042). Total cholesterol exhibited a significant difference between patients with hypertension and those without hypertension (177.3 +/- 29.6 mg/dL vs. 222.8 +/- 28.5 mg/dL, P = 0.004). CONCLUSION: Adult TS patients should be carefully followed regarding the development of diabetes and hypertension in case of severe central obesity and dyslipidemia.

Adrenocortical Carcinoma in a Patient with Congenital Adrenal Hyperplasia / 대한소아내분비학회지

Adrenocortical carcinoma is a very rare condition in childhood. There are only a few reports about adrenocortical carcinomas associated with congenital adrenal hyperplasia. A two-month-old male baby presented at the local clinic with skin hyperpigmentation, dehydration, hyponatremia, and hyperkalemia. He was diagnosed with congenital adrenal hyperplasia and had been treated with hydrocortisone and 9alpha-fludrocortisone until 1 year of age. At age 5.8 years, he visited an outpatient clinic because of tall stature and secondary sexual characteristics, and hydrocortisone was administered. At age 16 years he was admitted for treatment of an adrenal tumor, incidentally detected during the evaluation of hematuria. Serum adrenocorticotrophic hormone and cortisol levels were 33.5 pg/mL and 5.2 microg/dL, respectively. 17alpha-hydroxyprogesterone level was 6.3 ng/mL and dehydroepiandrosterone sulfate level was 31.2 microg/dL. Abdominal ultrasonography and computed tomography revealed a solid mass of 7.7 x 5.6 x 6.2 cm in the left adrenal gland. It was totally removed by surgery, and the histopathology was compatible with adrenocortical carcinoma.