Hypertriglyceridemia in Obese Children and Adolescents

정모경,유은경 대한비만학회 2018 The Korean journal of obesity Vol.27 No.3

The increasing prevalence of obesity in children and adolescents is a serious public health concern. Hypertriglyceridemia is common in obese children and adolescents, and elevated triglyceride (TG) level is a known biomarker of cardiometabolic risk. Results from genetic studies suggest that TG and TG-rich lipoproteins and, more specifically, remnant cholesterol are in the causal pathway of cardiovascular disease. However, simultaneous measurement of all remnants has not yet been established, and plasma TG level can be used as a useful marker of remnant cholesterol. Adipose tissue dysfunction, including impaired adipocyte TG storage and release of fatty acids, mediates the development of obesity-related complications. The prevalence of hypertriglyceridemia increases in overweight or obese children and is associated with other cardiometabolic risk factors. Recently, the TG/high-density lipoprotein cholesterol (HDL-C) ratio was recognized as a marker of structural vascular changes and insulin resistance in obese youth. Recent guidelines recommend universal lipid screening with nonfasting non-HDL-C measurement in children at 9–11 years of age; however, fasting lipid profiles should be measured in obese children and overweight adolescents and in those with high non-HDL-C in universal screening. The primary approach to lower TG in children includes dietary and lifestyle modifications; however, children with severe hypertriglyceridemia should also be referred to a pediatric lipid specialist.

A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis

정모경,진주현,김현옥,권아름,채현욱,강석진,김덕희,김호성 대한소아내분비학회 2017 Annals of Pediatirc Endocrinology & Metabolism Vol.22 No.1

Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoproteinbinding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.

Adult height in girls with central precocious puberty treated with gonadotropin-releasing hormone agonist with or without growth hormone

정모경,송경철,권아름,채현욱,김덕희,김호성 대한소아내분비학회 2014 Annals of Pediatirc Endocrinology & Metabolism Vol.19 No.4

Purpose: There is controversy surrounding the growth outcomes of treatment with gonadotropin-releasing hormone agonist (GnRHa) in central precocious puberty (CPP). We analyzed height preservation after treatment with GnRHa with and without growth hormone (GH) in girls with CPP. Methods: We reviewed the medical records of 82 girls with idiopathic CPP who had been treated with GnRHa at Severance Children’s Hospital from 2004 to 2014. We assessed the changes in height standard deviation score (SDS) for bone age (BA), and compared adult height (AH) with midparental height (MPH) and predicted adult height (PAH) during treatment in groups received GnRHa alone (n=59) or GnRHa plus GH (n=23). Results: In the GnRHa alone group, the height SDS for BA was increased during treatment. AH (160.4±4.23 cm) was significantly higher than the initial PAH (156.6±3.96 cm) (P<0.001), and it was similar to the MPH (159.9±3.52 cm). In the GnRHa plus GH group, the height SDS for BA was also increased during treatment. AH (159.3±5.33 cm) was also higher than the initial PAH (154.6±2.55 cm) (P<0.001), which was similar to the MPH (158.1±3.31 cm). Height gain was slightly higher than that in the GnRHa alone group, however it statistically showed no significant correlation with GH treatment. Conclusion: In CPP girls treated with GnRHa, the height SDS for BA was increased, and the AH was higher than the initial PAH. Combined GH treatment showed a limited increase in height gain.

결절성 경화증 환자에서 경막하 거대세포 성상세포종의 감마나이프와 수술치료 1례

정모경(Mo Kyung Jung),이상미(Sang Mi Lee),유리타(Rita Yu),김흥동(Heung Dong Kim),이준수(Joon Soo Lee),김동석(Dong Suk Kim),강훈철(Hoon-Chul Kang) 대한소아신경학회 2013 대한소아신경학회지 Vol.21 No.3

저자들은 결절성 경화증에서 흔하게 동반될 수 있는 SEGA가 있는 환자에서 GK-SRS를 시행하여 초기 경과가 좋았으나, 재발을 하여 결국 수술적 절제를 시행하게 된 증례를 경험하여 이를 보고하였다. Subependymal giant cell astrocytoma (SEGA) is the most common brain tumor that develops in 5-20% of patients with tuberous sclerosis complex. Although these lesions are slowly growing tumor, they can cause morbidity and mortality due to acute hydrocephalus because of their prevalent location near the foramen of Monro. Surgery has been the standard care for SEGAs demonstrating serial growth and symptomatic hydrocephalus. However, not all SEGAs are treatable by complete surgical resection. Gamma Knife stereotactic radiosurgery can be considered as a second option, but it has shown highly variable responses in patients with limited data. In recent years, drugs with novel mechanism, sirolimus and other mammalian target of rapamycin (mTOR) inhibitors have been found to reduce the size of SEGAs. We report a case of treatment of SEGA with gamma knife surgery which continued for two years without progression, even though surgical resection was done, finally.

XYY syndrome: a 13-year-old boy with tall stature

조원하,정모경,김기은,채현욱,김덕희,권아름,김호성 대한소아내분비학회 2015 Annals of Pediatirc Endocrinology & Metabolism Vol.20 No.3

When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.

Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

유민경,정모경,김기은,권아름,채현욱,김덕희,김호성 대한소아내분비학회 2015 Annals of Pediatirc Endocrinology & Metabolism Vol.20 No.3

Purpose: In male patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumors (TARTs) have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART. Methods: Among 102 CAH patients aged 0–30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children’s Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US) after adjusting the dosage of glucocorticoids. Results: TARTs were detected in 8 of the 13 patients (61.5%). The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH) was higher in the TARTs patient group compared to the non-TARTs group (P<0.05). The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case. Conclusion: The serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.

Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

조은정,허진호,정모경,권아름,채현욱,김덕희,김호성 대한소아내분비학회 2017 Annals of Pediatirc Endocrinology & Metabolism Vol.22 No.2

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.

A boy with 46,X,+mar presenting gynecomastia and short stature

김기은,김예진,정모경,채현욱,권아름,이우정,김덕희,김호성 대한소아내분비학회 2017 Annals of Pediatirc Endocrinology & Metabolism Vol.22 No.4

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y) (q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.

Hypotonic hyponatremia by primary polydipsia caused brain death in a 10-year-old boy

고아라,김수정,정모경,김기은,채현욱,김덕희,김호성,권아름 대한소아내분비학회 2015 Annals of Pediatirc Endocrinology & Metabolism Vol.20 No.3

Hypotonic hyponatremia by primary polydipsia can cause severe neurologic complications due to cerebral edema. A 10-year-and-4-month-old boy with a psychiatric history of intellectual disability and behavioral disorders who presented with chief complaints of seizure and mental change showed severe hypotonic hyponatremia with low urine osmolality (serum sodium, 101 mmol/L; serum osmolality, 215 mOsm/kg; urine osmolality, 108 mOsm/kg). The patient had been polydipsic for a few months prior, and this had been worse in the previous few days. A diagnosis of hypotonic hyponatremia caused by primary polydipsia was made. The patient was in a coma, and developed respiratory arrest and became brain death shortly after admission, despite the treatment. The initial brain magnetic resonance imaging showed severe brain swelling with tonsillar and uncal herniation, and the patient was declared as brain death. It has been reported that antidiuretic hormone suppression is inadequate in patients with chronic polydipsia, and that this inadequate suppression of antidiuretic hormone is aggravated in patients with acute psychosis. Therefore, hyponatremia by primary polydipsia, although it is rare, can cause serious and life-threatening neurologic complications.

Clinical manifestations of Rathke’s cleft cysts and their natural progression during 2 years in children and adolescents

조은정,진주현,정모경,권아름,채현욱,김덕희,김호성 대한소아내분비학회 2017 Annals of Pediatirc Endocrinology & Metabolism Vol.22 No.3

Purpose: Rathke’s cleft cyst (RCC) is an asymptomatic benign lesion. With increased interest in pediatric endocrinology, the prevalence of RCCs in children is also increasing. However, the clinical relevance and proper management of RCC is not well defined in children. Therefore, we investigated the clinical manifestations and radiologic features of RCC in children and adolescents, as well as the natural progression of RCC. Methods: We retrospectively reviewed the medical records of 91 children and adolescents with RCC diagnosed with magnetic resonance imaging (MRI) in Severance Children’s Hospital from January 2006 to December 2015. The clinical, hormonal, and imaging findings were analyzed in patient groups classified according to age. The size of each cyst was assessed in sixty patients who underwent follow-up MRI during the 2 years. Results: Female patients were predominant (64 vs. 27). The common clinical features at presentation were endocrine dysfunction (59.3%), headache (23.0%), and dizziness (4.4%). Symptoms related to endocrine disorders were more frequent in younger patients. In 7 patients managed surgically, the cysts were significantly larger and more frequently located in the suprasellar region. Of 60 nonsurgical patients with a follow-up MRI performed within 2 years after the diagnosis, the RCC size increased in about 26.7% (n=16). Conclusion: Although 94.4% of the patients with RCC had clinical symptoms, surgery was performed in only about 7.5% of patients. RCC is associated with pituitary insufficiency, thus, baseline and follow-up endocrine function tests are required. Additionally, regular MRI follow-up is required in long-term period to monitor change in size.