Genetic diagnosis of primary adrenal insufficiency in children: A paradigm change
نویسندگان
چکیده
منابع مشابه
Diagnosis of adrenal insufficiency.
BACKGROUND The cosyntropin stimulation test is the initial endocrine evaluation of suspected primary or secondary adrenal insufficiency. PURPOSE To critically review the utility of the cosyntropin stimulation test for evaluating adrenal insufficiency. DATA SOURCES The MEDLINE database was searched from 1966 to 2002 for all English-language papers related to the diagnosis of adrenal insuffic...
متن کاملWhole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particu...
متن کاملDiagnosis and management of adrenal insufficiency.
Adrenal insufficiency continues to be a challenge for patients, their physicians, and researchers. During the past decade, long-term studies have shown increased mortality and morbidity and impaired quality of life in patients with adrenal insufficiency. These findings might, at least partially, be due to the failure of glucocorticoid replacement therapy to closely resemble physiological diurna...
متن کاملAdrenal insufficiency in children with sepsis.
OBJECTIVE To determine the frequency of adrenal insufficiency in children diagnosed with sepsis that were staying in pediatric intensive care units and to establish the association between adrenal function and the use of vasoactive drugs, mechanical ventilation time and mortality. METHODS A cohort-designed study was conducted to assess the incidence of adrenal insufficiency in children aged 2...
متن کامل[Adrenal insufficiency in children with septic shock].
OBJECTIVE To review the criteria for diagnosing and treating adrenal insufficiency in patients with septic shock. SOURCE OF DATA Articles published in Brazilian and foreign journals selected through these publicationś websites and Medline, as well as references cited in key articles. SUMMARY OF THE FINDINGS The literature reports a range betwen 17 and 54% for the finding of adrenal insuffic...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2021
ISSN: 2472-1972
DOI: 10.1210/jendso/bvab117