Current Modalities for Fracture Healing Enhancement

Previously, most fractures have been treated through bone reduction and immobilization. With an increase in the patients’ need for an early return to their normal function, development in surgical techniques and materials have accelerated. However, delayed union or non-union of the fracture site sometimes inhibits immediate return to normal life. To enhance fracture healing, diverse materials and methods have been developed. This is a review on the current modalities of fracture healing enhancement, which aims to provide a comprehensive knowledge regarding fracture healing for researchers and health practitioners.

Prostatic Artery Embolization for Lower Urinary Tract Symptoms via Transradial Versus Transfemoral Artery Access: Single-Center Technical Outcomes

Objective@#To evaluate the safety and feasibility of prostatic artery embolization (PAE) via transradial access (TRA) compared with transfemoral access (TFA). @*Materials and Methods@#This retrospective study included 53 consecutive men with lower urinary tract symptoms (LUTS) who underwent PAE between September 2018 and September 2021. Thirty-one patients (mean age ± standard deviation:70.6 ± 8.4 years) were treated with TFA, including 14 patients treated before adopting TRA. Since December 2019, TRA has also been attempted with the procedure’s selection criteria of patent carpal circulation and a height ≤ 172 cm, with 22 patients treated via TRA (69.1 ± 9.6 years). Parameters of technical success (defined as successful bilateral embolization), clinical success (defined as LUTS improvement), procedural time, radiation dose, and adverse events were compared between the two groups using the Fisher’s exact test, independent sample t test, Wilcoxon signed-rank test, or Mann-Whitney test. @*Results@#All patients received at least one-side PAE. Technical success of PAE was achieved in most patients (TRA, 21/22; TFA, 30/31; p > 0.999). No technical problem-related conversion from TRA to TFA occurred. The clinical success rate was 85% (11/13) in patients with TRA, and 89% (16/18) in patients with TFA for follow-up > 2 weeks post-PAE (median, 3 months) (p > 0.999). The median procedure time was similar in both groups (TRA, 81 minutes vs. TFA, 94 minutes; p = 0.570). No significant dose differences were found between the TRA and TFA groups in the dose-area product (median Gycm2 , 95 [range, 44–255] for TRA and 84 [34–255] for TFA; p = 0.678) or cumulative air kerma (median mGy, 609 [236–1584] for TRA and 634 [217–1594] for TFA; p = 0.551). No major adverse events occurred in either of the groups. @*Conclusion@#PAE via TRA is a safe and feasible method comparable to conventional TFA. It can be safely implemented by selecting patients with patent carpal circulation and adequate height.

A Case of Pituitary Stalk Interruption Syndrome in Early Childhood Presenting with Congenital Hypothyroidism

Pituitary stalk interruption syndrome (PSIS) manifests as an isolated or combined pituitary hormone deficiency (CPHD) and is usually diagnosed by magnetic resonance imaging (MRI). We describe a patient with PSIS who presented with central hypothyroidism. The patient was born at 35 weeks’ gestation and weighed 1,980 g. Newborn screening test including thyroid-stimulating hormone (TSH) were normal; however, follow-up tests revealed low serum free thyroxine and mildly elevated TSH levels. Thyroid hormone replacement was initiated on the 29th day of birth. At 13-month-old age, the TRH stimulation test showed a delayed and prolonged increase in serum TSH levels, suggesting tertiary hypothyroidism. The combined pituitary stimulation test revealed CPHD and hyper-responsiveness of prolactin to TRH, suggesting hypothalamic-pituitary disconnection. MRI of the pituitary gland revealed the absence of the pituitary stalk, a small anterior pituitary, and an ectopic posterior pituitary located in the hypothalamic area. Replacement therapies with corticosteroid and growth hormone were initiated and then she reached catch-up growth. The TRH stimulation test can be helpful for diagnosing central hypothyroidism, which may be an early presentation of PSIS. Therefore, patients with central hypothyroidism should be considered for PSIS, thereby patients can be treated earlier and reach normal growth and development.

Emergency cesarean section performed in a patient with confirmed severe acute respiratory syndrome Coronavirus-2 -a case report- / 대한마취과학회지

Background@#Since the first case of severe acute respiratory syndrome Coronavirus-2 (SARS-CoV-2) occurred in Wuhan in December 2019, the virus has spread globally. The World Health Organization declared the virus outbreak a pandemic on March 11, 2020. On January 19, 2020, a 35-year-old woman who returned from China was confirmed as the first SARS-CoV-2 infected case in Korea. Since then, it has spread all over Korea.Case: We report the first case of a SARS-CoV-2 positive woman delivering a baby through cesarean section at 37+6 weeks of pregnancy in the Republic of Korea. @*Conclusions@#This case suggested that negative pressure operating room, skillful medical team, and enhanced personal protective equipment including N95 masks, surgical cap, double gown, double gloves, shoe covers, and powered air-purifying respirator are required at the hospital for safe delivery in such a case.

Multifactorial analysis of the surgical outcomes of giant congenital melanocytic nevi: Single versus serial tissue expansion

Background@#Giant congenital melanocytic nevus (GCMN) is a rare disease, for which complete surgical resection is recommended. However, the size of the lesions presents problems for the management of the condition. The most popular approach is to use a tissue expander; however, single-stage expansion in reconstructive surgery for GCMN cannot always address the entire defect. Few reports have compared tissue expansion techniques. The present study compared single and serial expansion to analyze the risk factors for complications and the surgical outcomes of the two techniques. @*Methods@#We retrospectively reviewed the medical charts of patients who underwent tissue expander reconstruction between March 2011 and July 2019. Serial expansion was indicated in cases of anatomically obvious defects after the first expansion, limited skin expansion with two more expander insertions, or capsular contracture after removal of the first expander. @*Results@#Fifty-five patients (88 cases) were analyzed, of whom 31 underwent serial expansion. The number of expanders inserted was higher in the serial-expansion group (P<0.001). The back and lower extremities were the most common locations for single and serial expansion, respectively (P=0.043). Multivariate analysis showed that sex (odds ratio [OR], 0.257; P=0.015), expander size (OR, 1.016; P=0.015), and inflation volume (OR, 0.987; P=0.015) were risk factors for complications. @*Conclusions@#Serial expansion is a good option for GCMN management. We demonstrated that large-sized expanders and large inflation volumes can lead to complications, and therefore require risk-reducing strategies. Nonetheless, serial expansion with proper management is appropriate for certain patients and can provide aesthetically satisfactory outcomes.

Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene

Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients’ initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea.

A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)

Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially those with mild or atypical phenotypes. A patient visited our clinic at 5 years of age with short stature. She was administered growth hormone treatment for 6 years, but her growth curve was still below the 3rd percentile. She and her mother had wide-spaced eyes and short stature, but there were no other remarkable features of a genetic syndrome. We analyzed their photographs using a smartphone facial recognition application. The results suggested Noonan syndrome; therefore, we performed targeted next-generation sequencing of genes associated with short stature. The results showed that they had a mutation on the PTPN11 gene known as the pathogenic mutation of Noonan syndrome. Facial recognition technology can help in the diagnosis of Noonan syndrome and other genetic syndromes, especially in patients with mild phenotypes.

Patient-Specific Computational Fluid Dynamics in Ruptured Posterior Communicating Aneurysms Using Measured Non-Newtonian Viscosity : A Preliminary Study

OBJECTIVE: The objective of this study was to analyze patient-specific blood flow in ruptured aneurysms using obtained non-Newtonian viscosity and to observe associated hemodynamic features and morphological effects.METHODS: Five patients with acute subarachnoid hemorrhage caused by ruptured posterior communicating artery aneurysms were included in the study. Patients’ blood samples were measured immediately after enrollment. Computational fluid dynamics (CFD) was conducted to evaluate viscosity distributions and wall shear stress (WSS) distributions using a patient-specific geometric model and shear-thinning viscosity properties.RESULTS: Substantial viscosity change was found at the dome of the aneurysms studied when applying non-Newtonian blood viscosity measured at peak-systole and end-diastole. The maximal WSS of the non-Newtonian model on an aneurysm at peaksystole was approximately 16% lower compared to Newtonian fluid, and most of the hemodynamic features of Newtonian flow at the aneurysms were higher, except for minimal WSS value. However, the differences between the Newtonian and non-Newtonian flow were not statistically significant. Rupture point of an aneurysm showed low WSS regardless of Newtonian or non-Newtonian CFD analyses.CONCLUSION: By using measured non-Newtonian viscosity and geometry on patient-specific CFD analysis, morphologic differences in hemodynamic features, such as changes in whole blood viscosity and WSS, were observed. Therefore, measured non-Newtonian viscosity might be possibly useful to obtain patient-specific hemodynamic and morphologic result.

Patient-Specific Computational Fluid Dynamics in Ruptured Posterior Communicating Aneurysms Using Measured Non-Newtonian Viscosity : A Preliminary Study

OBJECTIVE: The objective of this study was to analyze patient-specific blood flow in ruptured aneurysms using obtained non-Newtonian viscosity and to observe associated hemodynamic features and morphological effects. METHODS: Five patients with acute subarachnoid hemorrhage caused by ruptured posterior communicating artery aneurysms were included in the study. Patients’ blood samples were measured immediately after enrollment. Computational fluid dynamics (CFD) was conducted to evaluate viscosity distributions and wall shear stress (WSS) distributions using a patient-specific geometric model and shear-thinning viscosity properties. RESULTS: Substantial viscosity change was found at the dome of the aneurysms studied when applying non-Newtonian blood viscosity measured at peak-systole and end-diastole. The maximal WSS of the non-Newtonian model on an aneurysm at peaksystole was approximately 16% lower compared to Newtonian fluid, and most of the hemodynamic features of Newtonian flow at the aneurysms were higher, except for minimal WSS value. However, the differences between the Newtonian and non-Newtonian flow were not statistically significant. Rupture point of an aneurysm showed low WSS regardless of Newtonian or non-Newtonian CFD analyses. CONCLUSION: By using measured non-Newtonian viscosity and geometry on patient-specific CFD analysis, morphologic differences in hemodynamic features, such as changes in whole blood viscosity and WSS, were observed. Therefore, measured non-Newtonian viscosity might be possibly useful to obtain patient-specific hemodynamic and morphologic result.

A Case of Adipsic Hypernatremia in a Patient with Panhypopituitarism Treated with Growth Hormone Replacement

Adipsic hypernatremia is a rare disease where patients do not feel thirst even in the increased serum osmotic pressure and results in electrolyte imbalance, severely increased osmotic pressure and neurologic symptoms like nausea, vomiting, and seizures. We report a 12-year-old male patient who had underwent a trans-sphenoidal surgery for craniopharyngioma newly diagnosed with adipsic hypernatremia after having growth hormone replacement for growth hormone deficiency. The patient visited emergency room complaining of generalized weakness, tremor in both legs, and poor oral intake including water after starting growth hormone replacement therapy. Laboratory test revealed serum sodium 168 mmol/L and serum osmolality 329 mOsm/kg, despite the patient didn't feel any thirst at all. We treated him with scheduled water intake of 2.5 L a day with intranasal vasopressin. He admitted to Soonchunhyang University Gumi Hospital and Soonchunhyang University Seoul Hospital for 4 times during the following 8 months and serum sodium level and osmolality was controlled by scheduled water intake combined with intranasal vasopressin treatment. It is still unclear whether growth hormone replacement worked as a trigger of hypernatremia.

First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

Final height of Korean patients with early treated congenital hypothyroidism / 소아과

PURPOSE: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. METHODS: The medical records of Korean CH patients (n=45) were reviewed. The FH was examined and target height (TH) was calculated based on mid-parental height. The FH z score (FHZ) and TH z score (THZ) were computed using the 2007 Korean National Growth Chart. The FHZ and THZ were compared with a Student t test. The impact of the etiology of CH (athyreosis, dyshormonogenesis, ectopic thyoid, hypoplastic thyroid), initial serum thyroid stimulating hormone (TSH) level, initial free thyroxine (T4) level, and time of therapy initiation based on FH was assessed. RESULTS: The mean FHZ was 0.10±1.01 for male patients and −0.11±1.09 for female patients. There were no significant differences between FHZ and THZ for both female (P=0.356) and male patients (P=0.237). No significant relationship was found between FH and the etiology of CH, initial TSH level, initial free T4 level, and the time of therapy initiation. CONCLUSION: Early intervention and satisfactory management do not appear to impede growth in Korean patients with CH. Thus, early detection and proper management of patients with CH detected by newborn screening program are necessary.

Wall Shear Stress and Flow Patterns in Unruptured and Ruptured Anterior Communicating Artery Aneurysms Using Computational Fluid Dynamics

OBJECTIVE: The goal of this study was to compare several parameters, including wall shear stress (WSS) and flow pattern, between unruptured and ruptured anterior communicating artery (ACoA) aneurysms using patient-specific aneurysm geometry.METHODS: In total, 18 unruptured and 24 ruptured aneurysms were analyzed using computational fluid dynamics (CFD) models. Minimal, average, and maximal wall shear stress were calculated based on CFD simulations. Aneurysm height, ostium diameter, aspect ratio, and area of aneurysm were measured. Aneurysms were classified according to flow complexity (simple or complex) and inflow jet (concentrated or diffused). Statistical analyses were performed to ascertain differences between the aneurysm groups.RESULTS: Average wall shear stress of the ruptured group was greater than that of the unruptured group (9.42% for aneurysm and 10.38% for ostium). The average area of ruptured aneurysms was 31.22% larger than unruptured aneurysms. Simple flow was observed in 14 of 18 (78%) unruptured aneurysms, while all ruptured aneurysms had complex flow (p < 0.001). Ruptured aneurysms were more likely to have a concentrated inflow jet (63%), while unruptured aneurysms predominantly had a diffused inflow jet (83%, p=0.004).CONCLUSION: Ruptured aneurysms tended to have a larger geometric size and greater WSS compared to unruptured aneurysms, but the difference was not statistically significant. Flow complexity and inflow jet were significantly different between unruptured and ruptured ACoA aneurysms.

Wall Shear Stress and Flow Patterns in Unruptured and Ruptured Anterior Communicating Artery Aneurysms Using Computational Fluid Dynamics

OBJECTIVE: The goal of this study was to compare several parameters, including wall shear stress (WSS) and flow pattern, between unruptured and ruptured anterior communicating artery (ACoA) aneurysms using patient-specific aneurysm geometry. METHODS: In total, 18 unruptured and 24 ruptured aneurysms were analyzed using computational fluid dynamics (CFD) models. Minimal, average, and maximal wall shear stress were calculated based on CFD simulations. Aneurysm height, ostium diameter, aspect ratio, and area of aneurysm were measured. Aneurysms were classified according to flow complexity (simple or complex) and inflow jet (concentrated or diffused). Statistical analyses were performed to ascertain differences between the aneurysm groups. RESULTS: Average wall shear stress of the ruptured group was greater than that of the unruptured group (9.42% for aneurysm and 10.38% for ostium). The average area of ruptured aneurysms was 31.22% larger than unruptured aneurysms. Simple flow was observed in 14 of 18 (78%) unruptured aneurysms, while all ruptured aneurysms had complex flow (p < 0.001). Ruptured aneurysms were more likely to have a concentrated inflow jet (63%), while unruptured aneurysms predominantly had a diffused inflow jet (83%, p=0.004). CONCLUSION: Ruptured aneurysms tended to have a larger geometric size and greater WSS compared to unruptured aneurysms, but the difference was not statistically significant. Flow complexity and inflow jet were significantly different between unruptured and ruptured ACoA aneurysms.

Effect of herbal extracts on bone regeneration in a rat calvaria defect model and screening system

OBJECTIVES: The aim of this study was to evaluate the effects of herbal extracts on bone regeneration. Two known samples were screened. MATERIALS AND METHODS: We previously established a rat calvaria defect model using a combination of collagen scaffold and herbal extracts. An 8 mm diameter trephine bur with a low-speed dental hand piece was used to create a circular calvaria defect. The experimental group was divided into 4 classifications: control, collagen matrix, Danshen with collagen, and Ge Gan with collagen. Animals in each group were sacrificed at 4, 6, 8, and 10 weeks after surgery, and bone regeneration ability was evaluated by histological examination. RESULTS: Results revealed that both Danshen and Ge Gan extracts increased bone formation activity when used with collagen matrix. All groups showed almost the same histological findings until 6 weeks. However, after 6 weeks, bone formation activity proceeded differently in each group. In the experimental groups, new bone formation activity was found continuously up to 10 weeks. In the Danshen and Ge Gan groups, grafted materials were still present until 10 weeks after treatment, as evidenced by foreign body reactions showing multinucleated giant cells in chronic inflammatory vascular connective tissue. CONCLUSION: Histological analyses showed that Danshen and Ge Gan extractions increased bone formation activity when used in conjunction with collagen matrix.

Clinical Efficacy of Solifenacin in the Management of Diabetes Mellitus-Associated Versus Idiopathic Overactive Bladder Symptoms: A Multicenter Prospective Study / 대한배뇨장애요실금학회지

PURPOSE: To compare the clinical efficacy of anticholinergics for managing diabetes mellitus-associated overactive bladder (DM OAB) versus idiopathic overactive bladder (OAB) in Korean women. METHODS: We conducted a multicenter, prospective, parallel-group, open-label, 12-week study. Women (20–65 years old) with OAB symptoms for over 3 months were assigned to the DM OAB and idiopathic OAB groups. Changes in the Overactive Bladder Symptom Score (OABSS), urgency, urinary urgency incontinence, nocturia, daytime frequency according to a voiding diary, uroflowmetry, and postvoid residual urine volume (PVR) at the first visit (V1), week 4 (V2), and week 12 (V3) were compared. RESULTS: No significant difference was found between the baseline patient characteristics of the DM OAB and idiopathic OAB groups. Treatment with solifenacin was associated with improvements in urgency, urinary urgency incontinence, nocturia, frequency according to a voiding diary, and the total OABSS between V1 and V2 and between V1 and V3. Moreover, a significant improvement in urgency and urge incontinence was found between V2 and V3 in the DM OAB group. However, no significant changes were found in any other parameters. There were no significant differences between the DM OAB group and the idiopathic OAB group except for urgency and urge incontinence at V2 (3.71 vs. 2.28 and 0.47 vs. 0.32, respectively). CONCLUSIONS: The patients who received solifenacin demonstrated improved urgency, urinary urgency incontinence, nocturia, frequency according to a voiding diary, and total OABSS. Management with solifenacin was equally effective for both DM-related OAB and idiopathic OAB.

A Concomitant Hemato-Oncologic Disorder of Patient with Down Syndrome

A patient with Down syndrome has hematologic and oncologic disorders of medical complication. Down syndrome shows that characteristic hematologic and oncologic abnormalities and developments of disorders are different at ages. Many hematologic disorders were related to Down syndrome. There are diseases of red blood cells, white blood cell disorders, platelet and bleeding disorders, aplastic anemia, and transient myeloproliferative disease. Acute myeloid leukemia, acute lymphoblastic leukemia, and rarely solid tumors (Neuroblastoma, Wilm's tumor, Hodgkin's lymphoma) are also associated with Down syndrome. We checked clinical manifestations of each disorder and we should make standard hematologic index of different age groups. In addition, the relations between chromosome 21 and hemato-oncologic disorders should be found. We need to investigate potential therapeutic interventions that can improve quality of life and life expectancy in patients with Down syndrome.

Clinical Manifestations, Gene Analysis of Patients with 3-Methylcrotonyl-CoA Carboxylase Deficiency

OBJECTIVE: 3-Methylcrotonyl CoA carboxylase deficiency (3MCCD) is classified as organic acid disease due to leucine catabolism. It is among the most common inborn errors of metabolism identified on newborn screening test using tandem mass spectrometry. There is a broad spectrum of clinical presentations. 3-Methylcrotonyl CoA carboxylase converts 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA using biotin as a coenzyme in mitochondria. Restricting protein diets and supplementing carnitine, glycine, and biotin are known treatments. We reported this study to find out clinical symptoms, type of gene mutation, and effect of treatment. METHODS: This study was based on retrospective data of patients with 3MCCD in Soonchunhyang University Seoul Hospital and Soonchunhyang University Bucheon Hospital between April 2009 to August 2016. RESULTS: All 10 infants were born term infants and had no symptoms. During the neonatal period, abnormalities were detected in the new born screening test using tandem mass spectrometry, 3-hydroxyisovalerylcarnitine was increased. 3-Methylcrotonylglycine (3MCG) and 3-hydroxyisovalreric acid (3HIVA) were examined in urine organic acid assay. The results showed that 3MCG was increased in all 10 children. Except for three of the 10 children, 3HIVA was increased. Genetic tests were performed on all 10 children. MCCC1 gene mutations were detected in four patients and MCCC2 mutations were detected in six patients. After diagnosis, all children were recommended leucine-restricted diets, and seven of the 10 patients started to feed on leucine free formula for the treatment of 3MCCD. CONCLUSION: According to our data, all patients has no symptoms and are shown normal development. There were no clinical symptoms or changes in prognosis according to gene mutation type.

A Case with Thyroid Hormone Resistance Syndrome

Thyroid hormone resistance is a rare syndrome of reduced tissue responsiveness to thyroid hormone. We report the case of a 13-month girl with short height and low weight. She was born at 37+6 weeks gestation and weighed 2,470 g. In the neonatal screening test, patients' thyroid stimulation hormone (TSH) level was increased to 13.1 µIU/mL. In follow-up test after getting levothyroxine medication, patients' free T4 level continued to increase and TSH level was normalized. After stop medication, the patient visited Soonchunhyang University Seoul Hospital every 2 to 3 months and done laboratory test, and the result was not changed. Despite good feeding, she consistently shows 5–10 percentile weight and 5–10 percentile height. Her bone age was delayed by 5 months compared to the expected age. In suspicious thyroid hormone resistance, THRβ gene study and brain magnetic resonance imaging (MRI), and T3 suppression test was done. Brain MRI and T3 suppression test shows the exception of pituitary thyroid adenoma. Gene study result was THRβ gene mutation, c.1012C>T (p.Arg338Trp), and heterozygous. This gene mutation was reported at thyroid hormone resistance family. After diagnosis of thyroid hormone resistance, because of the patient is asymptomatic, she does not have medication. We are checking developmental delay, growth delay, and other clinical hypothyroid symptoms.

Clinical Features of Patients with Congenital Hypothyroidism Due to Ectopic Thyroid

OBJECTIVE: This study aimed to describe the clinical features of patients with congenital hypothyroidism due to ectopic thyroid including locations of ectopic thyroid, thyroid function, age of treatment, and starting dose of medication. METHODS: A total of 71 children with congenital hypothyroidism due to ectopic thyroid diagnosed by thyroid ultrasonography (USG) or 99mTc-petechnetate thyroid scan in the department of pediatrics, Soonchunhyang University Seoul Hospital from 1992 to 2015 were enrolled and analyzed retrospectively. RESULTS: Among 71 patients, 26 patients (36.6%) were male and 45 patients (63.4%) were female as the gender ratio was 1:1.73. The locations of ectopic thyroid confirmed by USG or scan were found to be sublingual in 52 patients (73.2%), lingual in 17 patients (23.9%), prelaryngeal in 1 patient (1.4%), and combined in 1 patient (1.4%), respectively. The average value of serum thyroid stimulating hormone was 267.5 µIU/mL and free thyroxin was 0.63 ng/dL. The average value of thyroglobulin (TG) was 217.6 ng/mL. Fifty two patients (73.2%) started treatment within the 1 month of age and 19 patients (26.8%) started after the 1 month of age. The average of the medication starting dose was 12.2 µg/kg/day. There was no significant difference on TG value and starting medication dose. CONCLUSION: As the previous literatures, the presence of ectopic thyroid was more common in female than male. It was coincident with this study. It is generally accepted that lingual ectopic thyroid is most common ectopic location, but in this study, proportion of sublingual thyroid was most common.