- Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
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Cho YK, Lee SY, Kim SW
- KMID: 2471735
- Endocrinol Metab.
- 2020 Mar;35(1):188-191.
- doi: 10.3803/EnM.2020.35.1.188
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain... -
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- A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
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Suh J, Choi HS, Kwon A, Chae HW, Lee JS, Kim HS
- KMID: 2468727
- Ann Pediatr Endocrinol Metab.
- 2019 Dec;24(4):248-252.
- doi: 10.6065/apem.2019.24.4.248
Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom... -
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- Risk Factors for Brain Damage in Preterm Infants After Late-Onset Circulatory Collapse Events
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Lee ES, Sohn JA, Kim HS, Heo JS, Lee JA
- KMID: 2440701
- Neonatal Med.
- 2019 Feb;26(1):55-62.
- doi: 10.5385/nm.2019.26.1.55
PURPOSE: This study aimed to identify risk factors for brain damage in infants with late-onset circulatory collapse (LCC), a circulatory failure that responds to glucocorticoid therapy. METHODS: We retrospectively reviewed 167... -
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- Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants
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Kum CD, Lee MJ, Park MS, Sohn YB, Noh K, Lee JH
- KMID: 2440699
- Neonatal Med.
- 2019 Feb;26(1):41-47.
- doi: 10.5385/nm.2019.26.1.41
PURPOSE: 17-Hydroxyprogesterone (17-OHP) screening results are difficult to interpret owing to the many influencing factors, and confirming the test results takes time. In this study, we examined the factors that... -
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- Adrenal Insufficiency in a Patient with Acute Myocardial Infarction Plus Shock
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Kang TS, Choi HY, Park SH
- KMID: 2424568
- Korean Circ J.
- 2018 Dec;48(12):1163-1164.
- doi: 10.4070/kcj.2018.0145
No abstract available. -
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- Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
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Serbis A, Tsinopoulou VR, Mouzaki K, Kotanidou , Giza S, Galli-Tsinopoulou A
- KMID: 2422482
- Ann Pediatr Endocrinol Metab.
- 2018 Sep;23(3):162-165.
- doi: 10.6065/apem.2018.23.3.162
X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is... -
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- TAK-264 (MLN0264) in Previously Treated Asian Patients with Advanced Gastrointestinal Carcinoma Expressing Guanylyl Cyclase C: Results from an Open-Label, Non-randomized Phase 1 Study
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Bang YJ, Takano T, Lin CC, Fasanmade , Yang H, Danaee H, Asato T, Kalebic T, Wang H, Doi T
- KMID: 2411129
- Cancer Res Treat.
- 2018 Apr;50(2):398-404.
- doi: 10.4143/crt.2017.074
PURPOSE: This phase 1 dose-escalation portion of the study evaluated the safety, pharmacokinetics (PK), and antitumor activity of TAK-264 in Asian patients with advanced gastrointestinal (GI) carcinoma or metastatic or... -
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- Critical Illness-Related Corticosteroid Insufficiency in Patients with Low Cardiac Output Syndrome after Cardiac Surgery
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Ok YJ, Lim JY, Jung SH
- KMID: 2409694
- Korean J Thorac Cardiovasc Surg.
- 2018 Apr;51(2):109-113.
- doi: 10.5090/kjtcs.2018.51.2.109
BACKGROUND: Low cardiac output syndrome (LCOS) after cardiac surgery usually requires inotropes. In this setting, critical illness-related corticosteroid insufficiency (CIRCI) may develop. We aimed to investigate the clinical features of... -
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- Corticosteroid Treatment in Critically Ill Patients
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Lee S, Ryu JA
- KMID: 2405762
- J Neurocrit Care.
- 2017 Dec;10(2):86-91.
- doi: 10.18700/jnc.170030
Increased levels of tissue corticosteroids are associated with important protective responses of critically ill patients. Critical illness and its treatment interfere with the normal corticosteroid response to illness and induce... -
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- Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency
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Jang KM, Ko CW
- KMID: 2396142
- Ann Pediatr Endocrinol Metab.
- 2017 Sep;22(3):208-212.
- doi: 10.6065/apem.2017.22.3.208
Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients... -
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- Adrenal Tuberculosis Mimicking a Malignant Tumor with Primary Adrenal Insufficiency
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Kim WS, Lee JH
- KMID: 2404878
- Soonchunhyang Med Sci.
- 2017 Jun;23(1):49-51.
- doi: 10.0000/sms.2017.23.1.49
Adrenal tuberculosis is a relatively infrequent cause of primary adrenocortical insufficiency in developed countries. Isolated adrenal tuberculosis, especially with enlargement of adrenal glands, can cause diagnostic problems and requires differentiation... -
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- A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
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Lee J, Kim WD, Kim HS, Lee EK, Park HD
- KMID: 2386606
- J Genet Med.
- 2017 Jun;14(1):27-30.
- doi: 10.5734/JGM.2017.14.1.27
Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown... -
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- Clinical Characteristics of Patients with Adrenal Insufficiency in a General Hospital
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Lee YY, Cho NH, Lee JW, Kim NK, Kim HS, Kim MK
- KMID: 2413291
- Endocrinol Metab.
- 2017 Mar;32(1):83-89.
- doi: 10.3803/EnM.2017.32.1.83
BACKGROUND: Adrenal insufficiency (AI) is a life-threatening disorder caused by the deficiency of adrenal steroid hormones. This retrospective cross-sectional study investigated the characteristics of patients with AI in Korea. METHODS: All... -
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- A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome
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Dayal D, Giri D, Senniappan S
- KMID: 2409802
- Ann Pediatr Endocrinol Metab.
- 2017 Mar;22(1):65-67.
- doi: 10.6065/apem.2017.22.1.65
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy... -
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- Large-Dose Glucocorticoid Induced Secondary Adrenal Insufficiency in Spinal Cord Injury
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Park SH, Cho KH
- KMID: 2371335
- Ann Rehabil Med.
- 2016 Dec;40(6):1033-1039.
- doi: 10.5535/arm.2016.40.6.1033
OBJECTIVE: To investigate the incidence of adrenal insufficiency (AI) in patients with spinal cord injury (SCI) with symptoms similar to those of AI and to assess the relevance of AI... -
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- Secondary adrenal insufficiency caused by sorafenib administration in a patient with hepatocellular carcinoma
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Jo SY, Ryu SH, Kim MY, Moon JS, Yoon WJ, Kim JN
- KMID: 2366131
- Yeungnam Univ J Med.
- 2016 Dec;33(2):155-158.
- doi: 10.12701/yujm.2016.33.2.155
Sorafenib (Nexavar) has been regarded as a treatment for unresectable hepatocellular carcinoma (HCC), with side effects that include hand-foot skin reaction, diarrhea, rash, fatigue, hypertension, nausea, anorexia, weight loss, and... -
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- Edentulous child with Allgrove syndrome: a rare case report
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Vahedi M, Fathi S, Allahbakhshi H
- KMID: 2358027
- Korean J Pediatr.
- 2016 Nov;59(11):456-459.
- doi: 10.3345/kjp.2016.59.11.456
Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first... -
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- Rapid Diagnosis of Mycobacterium abscessus Bacteremia Using Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry
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Won EJ, Choi YJ, Kim SH, Shin JH
- KMID: 2353044
- Ann Clin Microbiol.
- 2016 Sep;19(3):77-81.
- doi: 10.5145/ACM.2016.19.3.77
Mycobacterium abscessus was isolated from cultures of seven blood samples from a 64-year-old diabetic female who was admitted due to steroid-unresponsive adrenal insufficiency. The isolates were difficult to identify using... -
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- Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report
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Lee HW, Kang JD, Yeo CW, Yoon SW, Lee KJ, Choi MK
- KMID: 2373766
- J Korean Med Sci.
- 2016 Aug;31(8):1345-1348.
- doi: 10.3346/jkms.2016.31.8.1345
Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease.... -
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- Brain ultrasonographic findings of late-onset circulatory dysfunction due to adrenal insufficiency in preterm infants
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Shin SM, Chai JW
- KMID: 2327632
- Ultrasonography.
- 2016 Jul;35(3):258-264.
- doi: 10.14366/usg.16013
PURPOSE: The aim of this study was to characterize the brain ultrasonographic findings of late-onset circulatory dysfunction (LCD) due to adrenal insufficiency (AI) in preterm infants. METHODS: Among the 257 preterm... -
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