• Journal of Genetic Medicine
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• 제14권1호
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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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• 제49권4호
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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.

• 대한약침학회지
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• 제10권2호통권23호
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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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• 제29권1호
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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.

• 정신신체의학
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• 제19권2호
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• pp.109-114
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• 2011

연구목적: 시상하부-뇌하수체-부신 축의 이상은 다양한 정신과적 증상과 연관이 있으며, 우울 증상도 나타날 수 있다. 저자들은 뇌하수체 기능저하 및 이차성 부신기능저하와 연관된 두통, 무의욕, 무기력, 정신운동 저하, 식욕 저하, 불면 및 걱정 등의 우울 증상을 주소로 정신과에 입원한 71세 남자 환자에 대해 증례 보고하고자 한다. 환자는 정신과 입원 후 두통, 불면, 불안 및 소화기 증상은 호전되었으나, 무기력감은 지속되었다. 퇴원 후 고열 및 의식 혼탁으로 감염내과에 재입원을 하였으며, 부신기능 저하소견을 동반한 범뇌하수체기능저하증이 진단되었고, 코티졸 투여로 전반적인 증상이 호전되었다. 뇌하수체 기능저하에 따른 갑상선 기능저하, 부신기능저하, 성장호르몬 저하 등은 무기력, 피곤, 불면, 체중 감소, 식욕 저하 등의 여러 가지 비특이적 증상들을 나타내고, 임상에서 이러한 비특이적 우울 증상을 가진 환자의 경우, 내분비 질환에 대한 감별이 필요하다.

• Clinical and Experimental Pediatrics
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• 제57권10호
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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.

• 사상체질의학회지
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• 제17권3호
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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.

• 대한유전성대사질환학회지
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• 제2권1호
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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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• 제48권12호
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• pp.1163-1164
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• 2018

• Journal of Genetic Medicine
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• 제20권1호
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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.