• Clinical and Experimental Pediatrics
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• v.58 no.6
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• pp.224-229
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• 2015

Purpose: Thyroid dysfunction is common in preterm infants. Congenital hypothyroidism causes neurodevelopmental impairment, which is preventable if properly treated. This study was conducted to describe the characteristics of thyroid dysfunction in very low birth weight infants (VLBWIs), evaluate risk factors of hypothyroidism, and suggest the reassessment of thyroid function with an initially normal thyroid-stimulating hormone (TSH) as part of a newborn screening test. Methods: VLBWIs (January 2010 to December 2012) were divided into two groups according to dysfunction-specific thyroid hormone replacement therapy, and associated factors were evaluated. Results: Of VLBWIs, 246 survivors were enrolled. Only 12.2% (30/246) of enrolled subjects exhibited thyroid dysfunction requiring thyroid hormone replacement. Moreover, only one out of 30 subjects who required thyroid hormone treatment had abnormal thyroid function in the newborn screening test with measured TSH. Most of the subjects in the treatment group (22/30) exhibited delayed TSH elevation. Gestational age, Apgar score, antenatal steroids therapy, respiratory distress syndrome, patent ductus arteriosus, sepsis, intraventricular hemorrhage, postnatal steroids therapy, and duration of mechanical ventilation did not differ between the two groups. Birth weight was smaller and infants with small for gestational age were more frequent in the treatment group. Conclusion: Physicians should not rule out suggested hypothyroidism, even when thyroid function of a newborn screening test is normal. We suggest retesting TSH and free thyroxine in high risk preterm infants with an initially normal TSH level using a newborn screening test.

• Korean Journal of Head & Neck Oncology
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• v.10 no.2
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• pp.206-211
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• 1994

Congenital thyroid dysgenesis including agenesis, hypoplasia and ectopia is the predominant cause of permanent hypothyroidism. Of these, two thirds are due to an ectopic thyroid and about one third to complete thyroid agensis. From Jan. 1981 to Dec. 1992, authors experienced the 9 cases of congenital thyroid dysgenesis. Aberrent thyroid was 4 cases (44.4%), thyroid hemiagenesis with aberrent thyroid was 3 cases(33.3%) and thyroid hemiagenesis was 2 cases(22.2%). The most predominant site of aberrent thyroid is the base of tongue(85.7%). 7 patients(77.8%) revealed euthyroidism and among them, 4 patients showed elevated TSH level. Hypothyroidism was 2 patients (22.2%). 7 cases responded to thyroid suppressive therapy. 2 cases of lingual thyroid which did not responed to thyroid suppressive therapy underwent surgery and they have placed on thyroid suppressive therapy postoperatively.

• Neonatal Medicine
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• v.16 no.2
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• pp.244-247
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• 2009

Thyroid hemiagenesis is a rare congenital anomaly in which one thyroid lobe fails to develop. Thyroid hemiagenesis usually does not cause clinical symptoms by itself, therefore, this anomaly is detected incidentally during the evaluation of other thyroid disorders. We describe a rare case of thyroid hemiagenesis in a 1-month-old female infant who presented with prolonged jaundice and abnormal laboratory findings of congenital hypothyroidism. The patient showed the characteristic features of thyroid hemiagenesis of the left lobe in Tc-99m pertechnetate scintigraphy and ultrasonography of the thyroid gland. The patient has improved with supportive care, including thyroid hormone replacement. Further long-term follow-up is required for the investigation of recurrence of thyroid abnormalities.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.1-11
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• 2019

Purpose: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The purpose of the present study was to determine the incidence of CH in South Korea during the period from January 1991 to March 2004. Methods: Central data from each city branch of SCL (Seoul Clinical Reference Laboratories) in Yongin, South Korea, was gathered and collectively analyzed. Newborn screening (NBS) for CH was based on measuring the levels of neonatal thyroid stimulating hormone (TSH) and free T4 (a cut-off of 20 mIU/L and less than 0.8 ng/dL, respectively). Results: During the study period, 671,805 live births were screened for CH based on TSH and free T4 ELISA assays. A total of 159 newborns were deemed positive for CH out of 671,805, with a corresponding incidence of 1 in 4,225. When a cut-off of 20 mIU/L was used in TSH assays, the associated sensitivity, specificity, and positive predictive values (PPV) were 100.0%, 99.7%, and 10.8%, respectively. When a cut-off of 0.8 ng/dL in free T4 assays was used, the associated sensitivity, specificity, and PPV were 100.0%, 98.5%, and 3.9%, respectively. Conclusion: CH incidence in South Korea as evidenced by the results of NBS was compared with its incidence and comparable to the other countries prior to 2004.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.105-110
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• 2022

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.35-42
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• 2018

Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.

• Clinical and Experimental Pediatrics
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• v.48 no.9
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• pp.1016-1018
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• 2005

Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.387-394
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• 2005

Purpose : We performed this study to compare the TSH and free $T_4$ levels according to gestational age and birth weight, and to reevaluate the cut-off values in the neonatal screening test for congenital hypothyroidism. Methods : Total 2,133 neonates(1,749 healthy newborns and 384 sick neonates) were screened in Dankook University Hospital from May 2000 to January 2003. Neonates with abnormal TSH values (higher than $20{\mu}IU/mL$) or abnormal free $T_4$ levels(lower than 1 ng/dL) were recalled to recheck the thyroid function test. At that time, physical examinations and history-taking regarding perinatal problem, medication history, and mother's illness were undertaken. Results : Serum TSH and free $T_4$ values revealed no significant difference according to sex, delivery type, and Apgar score. The free $T_4$ levels showed statistically significant differences, with gestational age or birth weight(P<0.01). The recall rate of neonates due to abnormal screening test was 7.48 percent. Compared with original cut-off values, the recall rate of the new cut-off values setted to TSH higher than $20{\mu}IU/mL$ or free $T_4$ lower than 0.64 ng/dL decreased from 7.48 percent to 4.8 percent in the healthy group. But, it compromised sensitivity when applied to the sick group. Conclusion : In this study, neonatal free $T_4$ levels were significantly different according to birth weight, gestational age, and the presence of compromised condition. Although the recall rate by TSH > $20{\mu}IU/mL$ or free $T_4$ <1 ng/dL was relatively high, it was impossible to set up new cut-off values without compromising sensitivity. We think studies including a larger study population will be required to change the cut-off values.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.2
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• pp.75-79
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• 2007

Background: Down's syndrome, or trisomy 21, is the commonest congenital chromosome anomaly. With improvement in medical care, these patients increasingly reach adulthood in spite of their physical maldevelopment and mental retardation. And, the number of those who required general anesthesia for dental treatment is increasing. Methods: We reviewed the 26 cases of 22 patients with Down's syndrome who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul National University Dental Hospital. Results: The mean age was 22 years. They all had severe mental retardation and some had congenital heart anomaly, epilepsy, hypothyroidism, acute leukemia, autism, cleft palate, and chronic renal failure. For anesthesia induction, 4 cases was needed physical restriction, but others showed good or moderate cooperation. Drugs used for anesthesia induction was thiopental (17 cases) and sevoflurane (9 cases). All patients received nasotracheal intubation and 3 cases needed difficult airway management. Mean total anesthetic time was $166{\pm}60$ min and staying time at PACU was $92{\pm}48$ min. There was no death or long term hospitalization because of severe complications. Conclusion: If general anesthesia is needed, pertinent diagnostic tests and workup about anomaly, and appropriate anesthetic planning are essential for safety.