• 대한두경부종양학회지
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• 제13권1호
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• pp.35-39
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• 1997

Background: Completion thyroidectomy is defined as the surgical removal of the remnant thyroid tissue following procedures less than total or near-total thyroidectomy. Although some authors advocate subtotal thyroidectomy with lower complication rates, total or completion thyroidectomy have been defended by others because of the improved survival and lower morbidity that is comparable with subtotal thyroidectomy. Objectives: The purpose of this paper is to review the necessity and safety of completion thyroidectomy for differentiated thyroid carcinoma(DTC). Materials & Methods: During the past 10 years(1986 to 1996) , authors have performed 211 total thyroidectomy. Ten of these patients were treated by completion thyroidectomy for DTC. Initial operation of 7 patients had been performed at St. Vincents Hospital and 3 patients at other hospital. The medical records of patients undergoing completion thyroidectomy were retrospectively reviewed. Results: The completion thyroidectomy specimen contained residual tumor cells in 8 of the 8 patients with papillary carcinoma and none of the two patients with follicular carcinoma. Complications of completion thyroidectomy were transient hypoparathyroidism in two patients and transient unilateral recurrent laryngeal nerve palsy in one patient. But permanent complications were not noticed. Conclusion: We recommend completion thyroidectomy as an efficient and safe method of surgical treatment with a low complication rate for DTC.

• Neonatal Medicine
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• 제28권3호
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• pp.133-138
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• 2021

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

• Journal of Interdisciplinary Genomics
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• 제3권1호
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• pp.21-24
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• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• Childhood Kidney Diseases
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• 제26권1호
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• 대한소아치과학회지
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• 제26권3호
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• pp.486-491
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• 1999

부갑상선기능저하증은 혈장내 칼슘 농도에 반응해 분비되는 부갑상선 호르몬의 분비가 비정상적으로 감소된 상태를 의미한다. 이에 반해 가정부갑상선기능저하증은 부갑상선의 기능은 정상이나 뇨세관과 파골세포등의 말단기관들이 부갑상선 호르몬에 반응하지 않는 질환이며, 원인은 이들 호르몬이 결합하는 수용체 성분인 Guanin protein을 결정하는 GS gene의 돌연변이에 의한다. 부갑상선기능저하증은 평균 8-9세에 발병하며 대부분이 20세 이전에 호발하게 되는데, 이 질환에 이환된 경우 특징적으로 뇌, 호르몬 기관, 연골세포등에 존재하는 GS gene의 돌연변이로 인해 성장 및 발육부전, 둥근 얼굴, 비만, 허리만곡증, 외골증등이 생기며, 조기 골단 폐쇄로 인한 중수골 및 중족골의 왜소증 등이 나타난다. 그리고 공통적으로 갑상선 자극 호르몬, 생식 호르몬, glucagon 등의 다수 호르몬에 대해서도 반응하지 않는다. 이들의 치과적 소견의 특징은, 법랑질의 형성부전과 맹출 지연이 가장 일반적이고 치배의 무형성, 치배결손, 짧고 이형성된 치근과 넓어진 치수강, 왜소치, 치수내 석회화, 부정교합 등도 자주 보고되고 있다. 가성부갑상선기능저하증으로 진단된 본 증례 환아의 구강내 소견으로는 전반적으로 짧고 미발육된 영구치 치근과 소구치 및 대구치의 맹출지연과 미맹출, 제 1, 2 소구치와 제 2 대구치의 형성 부전양상이 보이고 있다. 이에 저자는 연세대학교 치과병원 소아치과에 내원한 가성부갑상선기능저하증 환자를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권1호
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• pp.47-51
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• 2014

Purpose: Neonatal late-onset hypocalcemia is defined as hypocalcemia developed after postnatal 3 days and associated with hypoparathyroidism, high phosphate diets and vitamin D deficiency. We experienced the increment of neonatal late onset hypocalcemia over 1 year. We tried to evaluate the relationship between late onset hypocalcemia and maternal hypovitaminosis D. Methods: The medical records in the neonates with late-onset hypocalcemia during January 2007 to July 2008 were retrospectively reviewed. Among those patients, 17 paired sera of mothers and neonates had collected. The levels of 25-OH vitamin D (25OHD) and intact parathyroid hormone (iPTH) were measured and were compared with neonate and the mother. Results: The mean gestational age was $38^{+1}$ weeks, and the mean body weight was 2,980 g. The onset time of hypocalcemia was 5.9 days of age. Most of them (88.2%) were feeding with formula and no one was only breast milk feeding. Of the 17 patients, 13 were born in spring or in winter. The median levels of calcium, phosphorus, alkaline phosphatase, iPTH and 25OHD were 7.0 mg/dL, 8.6 mg/dL, 191.0 U/L, 57.2 pg/mL and 24.0 ng/mL in neonates. The levels of 25OHD of 6 neonates were <20 ng/mL. A total of 16 mothers were considered vitamin D-deficient (<20 ng/mL), and vitamin D insufficient (20<25OHD<30 ng/mL). Conclusion: Neonatal late-onset hypocalcemia in our study seems to be influenced by maternal vitamin D deficiency and insufficiency. Sun tanning and vitamin D supplements from winter to spring would be helpful to prevent maternal vitamin D deficiency, one of the causes of neonatal late-onset hypocalcemia.

• 대한두경부종양학회지
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• 제18권1호
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• pp.60-64
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• 2002

Objectives: Three classic treatment modalities have been used to treat Graves' disease: antithyroid medication, radioiodine ablation, and subtotal thyroidectomy. Postoperative thyroid functions were studied in patients with Graves' disease treated by subtotal thyroidectomy to evaluate the superiority of surgical treatment. Materials and Methods: One hundred fourty patients of Graves' disease were analysed retrospectively in follow-up for more than three years following subtotal thyroidectomy. Postoperative serum levels of $T_3,\;T_4, TSH, TSH-R Ab, free $T_4$, were evaluated to watch hypo- or hyperthyroidsm. Results: In the evaluation of preop- and postoperative thyroid function after three years of subtotal thyroidectomy, $T_3$ was changed from $464.10{\pm}196.16ng/dl$ to $140.41{\pm}76.56ng/dl$ in mean value, $T_4$ was changed from $20.76{\pm}7.98{\mu}g/dl$ to $9.54{\pm}4.02{\mu}g/dl$, $TSHT_3$ was changed from $0.55{\pm}4.42{\mu}u/ml$ to $4.96{\pm}7.20{\mu}u/ml$, TSH-R Ab was changed from $41.6{\pm}28.27%$ to $28.7{\pm}28.79%$ and free $T_4$ was changed from $4.45{\pm}2.33ng/dl$ to $1.44{\pm}0.69ng/dl$ in mean value. Euthyroidism was noted in 118 patients(84.3%), overt hyperthyroidism in 6 patiens(4.3%), latent hyperthyroidism in 8 patients(5.7%), overt hypothyroidism in 2 patint(1.4%), and latent hypothyroidism in 6 patients(4.3%). Of surgical complications, permanant hypoparathyroidism was found in one patient, recurrent laryngeal nerve injury in two patients, postoprative bleeding with reoperation in two patients, and death in one patient. Conclusion: The thyroid function after subtotal thyroidectomy in diffuse toxic goiter is normal level (euthyroidism) in 84.3% and low recurrence rate of hyperthyroidism is showed with rare surgical complication. Therefore, subtotal thyroidectomy in diffuse toxic goiter is more effective and safe than RI or longterm ATD treatment, if the operation is performed by skillful surgeon.

• 대한두경부종양학회지
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• 제13권2호
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• pp.213-220
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• 1997

Background: Thyroid cancer is a relatively rare neoplasm and its incidence varies geographically and ethnically around the world. Thyroid cancer is the most common endocrine malignancy, but it has a wide spectrum of biologic behavior, histologic appearance, and management. Purpose: The purpose of the study was to analyse and evaluate all aspects of the clinical consideration in thyroid cancer. Method: Between 1986 and 1995, a retrospective analysis of 77 thyrod cancer patients admitted at the Department of Surgery, Hangang Sacred Heart Hospital, Hallym University was made to assess clinical entities. Result: By the pathological classification, the papillary carcinoma was the most common type(83.1%). Male to female ratio was 1 : 5.4 and most prevalent age group was noted from fourth decade to fifth decade(46.8%). The most common duration of illness between the appearance of the symptoms and the treatment was below 6 months(44.2%), and the most common symptom was the palpable mass at the anterior portion of the neck(96.1%). Most cases of the thyroid cancer were appeared as cold nodule in the $^{99m}$Tc-thyroid scan(95.7%). In the site of tumor location, the right and left lobe was distributed similarly. In the extent of tumor, incidence of intrathyroidal location was 41.6%, and that of the metastasis to the cervical lymph nodes was 44.2% and that of the direct capsular invasion was 27.3%, and incidence of both involved case was 13%. Surgical procedures were total thyroidectomy alone in 27 cases(35.1%) or with modified neck dissection in 6 cases(7.8%), or with radical neck dissection in 2 cases (2.6%), near total thyroidectomy alone in 22 cases(28.6%), ipsilateral lobectomy with isthmectomy alone in 12 cases(15.6%) or with modified neck dissection in 1 case(1.3%), and biopsy only in 7 cases(9.1%). The most common postoperative complications were transient hypoparathyroidism(5.2%) and transient unilateral recurrent laryngeal nerve paralysis(5.2%). Conclusion: The major problem of management of thyroid cancer include a wide spectrum of clinical behaviour of this tumor entity, the lack of reliable prognostic factors and lack of an objective assessment of the various treatment modalities. But because of showing the favorable prognosis for most thyroid cancer, appropriate and aggressive management should be recommended.

• 대한소아치과학회지
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• 제31권2호
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• pp.262-266
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• 2004

부갑상선 호르몬은 혈중 인농도를 낮추고, 칼슘농도를 증가시키는 호르몬으로 부갑상선기능저하증은 부갑상선이 존재하지 않거나 비정상적으로 기능하여 이 호르몬의 분비가 감소되는 질환이며, 가성부갑상선기능저하증은 부갑상선 호르몬 분비는 정상이나, 이 호르몬에 대한 골과 신장의 반응이상으로 혈중 칼슘 농도가 감소되고 인농도가 증가되는 질환이다. 가성부갑상선기능저하증은 임상적으로 성장 및 발육부전, 둥근 얼굴, 조기 골단폐쇄로 인한 단지증, 이소성 연조직 석회화, 비만, 두개관의 비후, 정신지체, 백내장 등이 나타난다. 구강내 소견으로는 치아의 맹출지연, 법랑질형성부전이 가장 큰 특징이며, 그 외에 결손치, 부정교합, 높은 구개궁, 확장된 치근관과 짧은 치근, 치수강 내 석회화, 높은 우식 이환율 치근막의 비후 등이 관찰된다. 본 증례에서 환아의 구강내 소견은 맹출한 하악 4전치와 상악 좌우측 영구 중절치, 상악 우측 영구 측절치, 상, 하악 제 1대구치에서 법랑질형성부전을 보였고, 다수의 유치에서 심한 동요도를 보였다. 방사선 소견으로는 대부분의 미맹출된 영구치들도 법랑질형성부전이 관찰되었으며, 특히 영구 견치의 경우 심한 치관의 형태이상을 볼 수 있었다. 또한 유치의 비정상적인 치근흡수가 나타났고, 하악 전치의 경우 치근형태가 짧고, 치근단이 둥근 형태로 나타났다. 이에 저자는 가성부갑상선기능저하증인 환아의 구강내 소견에 대해 보고하고자 한다.