Association between serum alanine aminotransferase level and obesity indices in Korean adolescents

안문배,배우리,한경도,조원경,조경순,박소현,정민호,서병규 대한소아청소년과학회 2015 Clinical and Experimental Pediatrics (CEP) Vol.58 No.5

Purpose: To analyze the correlation between serum alanine aminotransferase (ALT) and obesity indices including body mass index (BMI), body fat percentage (BFP), total fat mass (FM), truncal fat mass (TFM), waist circumference (WC), and waist-to-height ratio (WHtR) in Korean adolescents. Methods: This was a cross-sectional study based on data derived from the 2010–2011 Korean National Health and Nutrition Examination Surveys (KNHANES). Subjects were Korean adolescents aged 10–18 years (871 total; 475 boys and 396 girls) who participated in KNHANES. Results: In both sexes, BMI, FM, TFM, WC, and WHtR were higher when ALT levels were in the 4th quartile. In boys, there was a significant positive correlation between ALT level and BMI, BFP, FM, TFM, WC, and WHtR (r=0.55, P<0.0001 for BMI; r=0.52, P<0.0001 for BFP; r=0.58, P<0.0001 for FM; r=0.61, P<0.0001 for TFM; and r=0.56, P<0.0001 for WC; r=0.62, P<0.0001 for WHtR), and the correlation coefficient was higher than that in girls. Conclusion: Our results suggest a significant positive association between serum ALT level and obesity indices in male adolescents.

Low bone mineral density can occur in children after shortterm systemic glucocorticoid treatment

안문배 대한소아청소년과학회 2022 Clinical and Experimental Pediatrics (CEP) Vol.65 No.6

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Endocrine complications during and after adolescence in a patient with cystinosis

안문배,김성은,조원경,정민호,서병규 대한소아내분비학회 2016 Annals of Pediatirc Endocrinology & Metabolism Vol.21 No.3

Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence. In this report, we review the presenting features and factors related to the long-term complications in a patient with cystinosis.

16세 청소년에서 발생한 갑상샘중독 주기성 마비 1례

안문배,정유진,이문희,조원경,서병규 대한소아내분비학회 2012 Annals of Pediatirc Endocrinology & Metabolism Vol.17 No.2

Thyrotoxic periodic paralysis (TPP) is a transient illness characterized by muscle weakness often associated with hypokalemia during thyrotoxic state. Hypokalemia is induced by thyroid hormone excess through stimulation of Na-K ATPase which pumps extracellular potassium ions into the cell. Muscle weakness resolves when serum potassium level is corrected, but the condition may recur when there is thyrotoxicosis. TPP is most commonly reported in Asian males aged between 20 to 40 years and it is rare in children and adolescents. We report a 16-year-old patient previously diagnosed with Graves’ disease who showed recurrent episodes of TPP. 갑상샘 중독성 주기성 마비는 갑상샘 항진증의 드문 합병증으로 소아청소년 연령에서는 발생 보고가 매우 드물다. 저자들은 그레이브스병으로 치료 중인 16세 남자 청소년에서 저칼륨혈증을 동반한 갑상샘 중독성 주기성 마비가 3회에걸쳐 재발한 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Bone morbidity in pediatric acute lymphoblastic leukemia

안문배,Byung-Kyu Suh 대한소아내분비학회 2020 Annals of Pediatirc Endocrinology & Metabolism Vol.25 No.1

Acute lymphoblastic leukemia (ALL), currently the most common pediatric leukemia, has a high curability rate of up to 90%. Endocrine disorders are highly prevalent in children with ALL, and skeletal morbidity is a major issue induced by multiple factors associated with ALL. Leukemia itself is a predominant risk factor for decreased bone formation, and major bone destruction occurs secondary to chemotherapeutic agents. Glucocorticoids are cornerstone drugs used throughout the course of ALL treatment that exert significant effects on demineralization and osteoclastogenesis. After completion of treatment, ALL survivors are prone to multiple hormone deficiencies that eventually affect bone mineral accrual. Dual-energy X-ray absorptiometry, the most widely used method of measuring bone mineral density, is used to determine the presence of childhood osteoporosis and vertebral fracture. Supplementation with calcium and vitamin D, administration of pyrophosphate analogues, and promotion of mobility and exercise are effective options to prevent further bone resorption and fracture incidence. This review focuses on addressing bone morbidity after pediatric ALL treatment and provides an overview of bone pathology based on skeletal outcomes to increase awareness among pediatric hemato-oncologists and endocrinologists.

Association between stress hyperglycemia and adverse outcomes in children visiting the pediatric emergency department

배우리,안문배 대한응급의학회 2022 대한응급의학회 학술대회초록집 Vol.2022 No.2

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene

조원경,안문배,장우리,채효진,김명신,서병규 대한소아내분비학회 2018 Annals of Pediatirc Endocrinology & Metabolism Vol.23 No.4

Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found. The patient was treated with propylthiouracil and propranolol, but hyperthyroidism was not well controlled. At 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation. Direct sequencing of the TSHR gene showed a heterozygous mutation of c.1899C>A (p.Asp633Glu) in exon 10. No mutations were discovered in any of the parents in a familial genetic study. We have reported a case of sporadic nonautoimmune congenital hyperthyroidism, by a missense mutation of the TSHR gene, for the first time in South Korea.

A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene

박수진,안문배,장우리,조원경,채효진,김명신,서병규,Park, Su Jin,Ahn, Moon Bae,Jang, Woori,Cho, Won Kyung,Chae, Hyo Jin,Kim, Myung Shin,Suh, Byung Kyu The Korean Society of Inherited Metabolic Disease 2017 대한유전성대사질환학회지 Vol.17 No.3

가부키 증후군(Kabuki syndrome)은 특징적인 얼굴(아치형의 넓은 눈썹, 낮은 코끝, 큰 귓바퀴, 아래 외측 안검 외전), 골격계 이상, 출생 후 성장 지연, 그리고 경도의 정신 지체를 특징으로 나타내는 선천성 이상 질환이다. 또한, 선천성 심장기형, 비뇨생식기 기형, 구개구순열을 포함한 위장관 기형, 안검 하수 등의 증상이 동반되기도 한다. 감염과 면역질환, 경련, 내분비 문제, 청력 손실이 나타날 수 있다. 가부키 증후군의 대부분은 12번 염색체의 장완에 위치한 KMT2D 유전자의 돌연변이에 의해 발병된다. KMT2D 유전자의 돌연변이로 생성된 비정상적인 KMT2D 단백질로 인해 신체의 여러 장기와 조직의 특정 유전자의 활성이 정상적으로 이뤄지지 못하여, 결과적으로 가부키 증후군의 특징적인 외형과 기능장애가 나타난다. 출생시 선천성 심장 기형, 갑상선 기능 저하 및 일과성 저혈당 과거력이 있던 환아가 만 4세경 성장 지연, 아치형 눈썹, 낮은 코끝, 아래 외측 안검 외전, 큰 귓바퀴 등의 얼굴 생김새를 보여 시행한 분자유전학적 검사에서 KMT2D의 exon 15에서 새로운 frameshift mutation이 발견되어 증례를 보고하는 바이다. 가부키 증후군은 성장 지연 뿐 아니라, 발달 장애 및 행동 장애, 사춘기 여아의 경우 조기 가슴 발육을 포함한 내분비적 문제, 사시, 안검하수 등의 안과적 문제, 만성 중이염, 청력 손실, 감염, 경련 등 다양한 증상을 나타낼 수 있기 때문에 조기에 질환을 진단하고, 임상증상에 따라 적절한 중재를 할 수 있도록, 정기적으로 신장, 몸무게, 머리둘레, 발달상태, 청각과 시각상태를 확인하는 것이 중요하다. 따라서 여러 장기의 선천 기형을 보이는 환아의 경우, 임상의는 출생 당시에는 두드러지지 않을 수 있는 특징적인 얼굴 생김새, 성장 지연, 정신 지체 등의 이상에 대해 유의하여야 한다. 분자유전학적 검사는 임상적으로 가부키 증후군이 의심되는 환아를 조기에 진단할 수 유용한 방법이며, 앞으로도 가부키 증후군과 연관된 유전자 변이에 대한 연구가 더욱 필요할 것으로 사료된다. Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

Helicobacter pylori 감염과 연관된 소아 Menetrier 병 1예

윤지홍,안문배,맹이소,김상용 대한상부위장관ㆍ헬리코박터학회 2014 Korean Journal of Helicobacter Upper Gastrointesti Vol.14 No.4

Ménétrier’s disease in childhood is a rare form of gastropathy characterized by hypoalbuminemia, endoscopic and/or radiologic findings of hypertrophic gastric folds, and histologic findings of foveolar hyperplasia in the stomach. It tends to have a self-limited course compared to the chronic and complicated course in adult Ménétrier’s disease. A 7-year-old boy was referred to Incheon St. Mary’s Hospital for facial edema. Physical examination on admission showed periorbital swelling, pitting edema in both legs, and epigastric tenderness. Laboratory tests on admission indicated hypoproteinemia (3.0 g/dL) with hypoalbuminemia (2.1 g/dL) and hypogammaglobulinemia. Urinalysis showed no abnormalities. The test results for anti-cytomegalovirus immunoglobulin M and cytomegalovirus PCR were negative. Stool Helicobacter pylori antigen was positive and fecal α1-antitrypsin clearance was 40.1 mL/day, consistent with protein-losing gastroenteropathy. Gastroduodenoscopy showed hypertrophic edematous gastric folds, erythema, and superficial erosion in the body of the stomach. The duodenum was normal. Histologic findings showed foveolar hyperplasia. His symptoms improved with conservative treatment including proton pump inhibitor from day 9 of hospitalization and resolved completely. Here we reported a case of pediatric protein-losing hypertrophic gastropathy associated with Helicobacter pylori infection.

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

이상수,한아름,안문배,김신희,조원경,조경순,박소현,정민호,서병규 대한소아내분비학회 2017 Annals of Pediatirc Endocrinology & Metabolism Vol.22 No.1

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient’s blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.