Case Reports in Rheumatology, 2020 Background. FMF is a common disease in the Mediterranean populations and may be complicated by AA amyloidosis. The coexistence of adrenal and thyroid amyloidosis in AA amyloidosis secondary to familial Mediterranean fever (FMF) is an extremely rare ...
Sadi A. Abukhalaf +5 more
doaj +1 more source
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]
, 2010 Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi +59 more
core +2 more sources
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]
, 2005 Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC +8 more
core +1 more source
Diagnosis and treatment of canine hypoadrenocorticism [PDF]
, 2018 Canine hypoadrenocorticism (Addison’s disease), the ‘great pretender’ of internal medicine, is a disease that should be frequently considered as a differential diagnosis of several clinical presentations, albeit it is less commonly the actual cause of ...
Gunn, Eilidh +2 more
core +1 more source
BMC Endocrine Disorders, 2019 Background Adrenal patients have a lifelong dependency on steroid replacement therapy and are vulnerable to sudden death from undertreated adrenal crisis.
Katherine G. White
doaj +1 more source
Rare Bilateral Adrenal Haemorrhage with Addisonian Crisis: When Risk Factors Come in Droves
Case Reports in Endocrinology, 2020 Addisonian crisis is the life-threatening acute manifestation of adrenal insufficiency due to absolute or relative glucocorticoid deficiency. Adrenal haemorrhage is a rare condition of unknown incidence with the risk of adrenal insufficiency and death ...
Anders Boisen Jensen +2 more
doaj +1 more source
[Pediatric emergency: adrenal insufficiency and adrenal crisis].
Archivos argentinos de pediatria, 2010 Adrenal insufficiency is defined by impaired secretion of adrenocortical hormones. It is classified upon the etiology in primary and secondary. Rapid recognition and therapy of adrenocortical crisis are critical to survival. Patients often have nonspecific symptoms: anorexia, vomiting, weakness, fatigue and lethargy.
Alicia Martínez +3 more
openaire +3 more sources
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia [PDF]
, 2006 Objective: Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R).
Achermann, JC +8 more
core +2 more sources
Risk Factors for Adrenal Crisis in Patients with Adrenal Insufficiency
Endocrine Journal, 2003 Patients with adrenal insufficiency have a life-threatening risk of adrenal crisis, thus preventing adrenal crisis is an important clinical issue. In order to clarify the risk factors for adrenal crisis, the medical records of 137 patients with established adrenal insufficiency were retrospectively investigated.
Satoru Shimizu +4 more
openaire +4 more sources
Cardiovascular abnormalities and impaired exercise performance in adolescents with congenital adrenal hyperplasia [PDF]
, 2015 Context: Patients with classic Congenital Adrenal Hyperplasia (CAH) are treated with lifelong glucocorticoids (GCS). Cardiovascular (CV) and metabolic effects of such therapy in adolescents have never been quantified.
Alessio, Maria +10 more
core +1 more source