• Journal of Genetic Medicine
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• v.14 no.1
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• pp.27-30
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• 2017

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 to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

• Journal of Korean Neurosurgical Society
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• v.49 no.4
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• pp.234-236
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• 2011

Lumbar spinal stenosis (LSS) is a common spinal disease in the elderly. The cardinal symptom of LSS is neurogenic claudication, but not all patients present with such typical symptom. The clinical symptoms are often confused with symptoms of peripheral neuropathy, musculo-skeletal disease and other medical conditions in elderly patients. In particular, LSS presenting with rapid progression of leg weakness must be distinguished from other combined diseases. We report a case of rapid progressive leg weakness in a patient with LSS and iatrogenic adrenal insufficiency that was induced by obscure health supplement.

• Journal of Pharmacopuncture
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• v.10 no.2 s.23
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• pp.41-46
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• 2007

Effects of mahwang(Ephedrae herba) aqua-acupuncture at sinsoo (B-23)and Jisil(B-52)on adrenal cortical insufficiency were investigated in dexamethasone treated rats. Concentration of serum cortisol was decreased in dexamethasone treated rats. However, these values showed a tendency to increase in mahwang(Ephedrae herba) aqua-acupuncture groups. Concentration of serum total protein was increased in dexamethasone treated rats. However, these values were decreased by the mahwang(Ephedrae herba) aqua-acupuncture. The portion of neutrophils was decreased and the portion of lymphocytes and eosinophils were increased in dexamethasone treated rats. However, in mahwang(Ephedrae herba) aqua-acupuncture groups, the portion of neutrophils showed a tendency to increase and the portion of lymphocytes and eosinophils showed a tendency to decrease. In dexamethasone treated rats, the weight of adrenal glands were decreased, however these values were increased in mahwang(Ephedrae herba) aqua-acupuncture groups.

• Journal of Yeungnam Medical Science
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• v.29 no.1
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• pp.35-37
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• 2012

Adrenal hemorrhages caused by blunt abdominal trauma have been frequently reported, and most of the lesions are unilateral. In contrast, bilateral hemorrhage of the adrenal glands after trauma rarely occurs in subjects with predisposing conditions such as coagulopathy, thromboembolism, and sepsis. Furthermore, bilateral hemorrhage of the adrenal glands is potentially fatal by inducing acute adrenal insufficiency. Here,a case of a 40-year-old man who developed traumatic bilateral adrenal hemorrhage after a car accident, without any predisposing condition, is reported. The spontaneous shrinkage of the bilateral lesions revealed in the follow-up abdominal computed tomography (CT) scansupported the aforementioned diagnosis. Fortunately, the patient had no clinical or biochemical evidence suggesting acute adrenal insufficiency. To these authors' knowledge, this is the first South Korean report of traumatic bilateral adrenal hemorrhage in a subject with no predisposing factors.

• Korean Journal of Psychosomatic Medicine
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• v.19 no.2
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• pp.109-114
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• 2011

The abnormalities in Hypothalamic-pituitary-adrenal(HPA) axis are associated with many psychiatric symptoms including depression. We present a report of a 71 year old man who was admitted to the psychiatric department presenting symptoms of headache, avolition, loss of energy, psychomotor retardation, poor appetite, insomnia, anxiety resulting from adrenal insufficiency and hypopituitarism. Hypothyroidism and electrolyte disturbance were managed and headache, insomnia, anxiety, GI symptoms were improved. But he remained in anergic state. After discharge, he was readmitted to infection department with high fever and drowsy mentality. Adrenal insufficiency was recognized and he was treated with corticosteroid replacement therapy. Finally his diagnosis was made as panhypopituitarism and overall symptoms were resolved. In this case, we showed how the atypical symptoms resulting from hypopituitarism develop and progress. Hypothyroidism, adrenal insufficiency, and growth hormone deficiency resulting secondarily from panhypopituitarism were associated with various nonspecific symptoms such as loss of energy, fatigue, insomnia, weight loss, decreased appetite etc. In clinical situation, differential diagnosis with depression is needed when clinicians were met a patient with these nonspecific symptoms. It is important that laboratory tests and differential diagnosis with endocrine diseases should be conducted, especially in geriatric patients with nonspecific symptoms like anergia, fatigue, poor appetite and so on.

• Clinical and Experimental Pediatrics
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• v.57 no.10
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• pp.425-433
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• 2014

Adrenal and thyroid hormones are essential for the regulation of intrauterine homeostasis, and for the timely differentiation and maturation of fetal organs. These hormones play complex roles during fetal life, and are believed to underlie the cellular communication that coordinates maternal-fetal interactions. They serve to modulate the functional adaptation for extrauterine life during the perinatal period. The pathophysiology of systemic vasopressor-resistant hypotension is associated with low levels of circulating cortisol, a result of immaturity of hypothalamic-pituitary-adrenal axis in preterm infants under stress. Over the past few decades, studies in preterm infants have shown abnormal clinical findings that suggest adrenal or thyroid dysfunction, yet the criteria used to diagnose adrenal insufficiency in preterm infants continue to be arbitrary. In addition, although hypothyroidism is frequently observed in extremely low gestational age infants, the benefits of thyroid hormone replacement therapy remain controversial. Screening methods for congenital hypothyroidism or congenital adrenal hyperplasia in the preterm neonate are inconclusive. Thus, further understanding of fetal and perinatal adrenal and thyroid function will provide an insight into the management of adrenal and thyroid function in the preterm infant.

• Journal of Sasang Constitutional Medicine
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• v.17 no.3
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• pp.156-162
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• 2005

1. Objectives The purpose of this study is to evaluate the effects of Sasang constitutional medical diagnosis and treatment on Taeumin's Hangueol syndrome, probably caused by Iatrogenic Adrenal Insufficiency. 2. Methods The subject is a 75 years old woman who has a severe chilling symptom without fever, probably caused by Iatrogenic Adrenal Insufficiency, and we had diagnosed her syndrome as Taeumin's Hangueol syndrome and prescribed Sasang Constitutional Medicine. 3. Results The scale of chilling symptom has been reduced. 4. Conclusions This case study shows an effcient results by using Sasang Constitutional Medicine in treatment of Taeumin's chilling syndrome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.15-19
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• 2002

Disorders resulting from defects in peroxisomal biogenesis include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. The three diseases are now considered as a continuum of clinical features. Neonatal adrenoleukodystrophy is intermediate between Zellweger syndrome and infantile Refsum disease in severity, and is characterized by profound hypotonia, intractable seizures and premature death. We report a cases of neonatal adrenoleukodystrophy presenting with neonatal seizure and hypotonia. At the age of 43 months, she had clinical evidence of adrenal insufficiency with skin hyperpigmentation and electrolyte imbalance. She was diagnosed having neonatal adrenoleukodystrophy based on abnormally high levels of plasma very long-chain fatty acids, pipecolic acid and phytanic acid.

• Korean Circulation Journal
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• v.48 no.12
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• pp.1163-1164
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• 2018

• Journal of Genetic Medicine
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• v.20 no.1
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• pp.25-29
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• 2023

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother. Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.