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
Pediatric Adrenal Insufficiency: Diagnosis, Management, and New Therapies
International Journal of Pediatrics, 2018 Adrenal insufficiency may result from a wide variety of congenital or acquired disorders of hypothalamus, pituitary, or adrenal cortex. Destruction or dysfunction of the adrenal cortex is the cause of primary adrenal insufficiency, while secondary ...
Sasigarn A. Bowden, Rohan Henry
doaj +1 more source
Primary adrenal lymphoma: Differential involvement with varying adrenal function
Indian Journal of Endocrinology and Metabolism, 2011 Primary adrenal Non-Hodgkin′s lymphoma is rare. The symptoms of the disease and response to treatment are variable depending on the type of lymphoma, tumor size, and presence of adrenal insufficiency.
Shiekh Aejaz Aziz +4 more
doaj +1 more source
Trabecular bone score and sclerostin concentrations in patients with primary adrenal insufficiency
Frontiers in Endocrinology, 2022 BackgroundPatients with primary adrenal insufficiency need lifelong replacement therapy with glucocorticoids and mineralocorticoids, which may influence their bone quality.AimThe aim of the study was to evaluate densitometry parameters, trabecular bone ...
Aleksandra Zdrojowy-Wełna +5 more
doaj +1 more source
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
Frontiers in Neurology, 2015 Prednisolone and adrenocorticotropic hormone (ACTH) are hormone therapies for infantile spasms. There is limited data on the occurrence of decreased adrenal reserve or signs of clinical adrenal insufficiency after hormone therapy. This is a retrospective
John R Mytinger, Sasigarn A Bowden
doaj +1 more source
Adrenal Insufficiency Associated with Cholestatic Jaundice: A Case Report
International Journal of Gerontology, 2018 Summary: Various disorders result in jaundice. Adrenal insufficiency is a rare cause of neonatal cholestasis, which is reversible with prompt glucocorticoid administration.
Wei-Cheng Lee +5 more
doaj +1 more source
International Journal of Emergency Medicine, 2023 Background Antiphospholipid syndrome causes systemic arterial and venous thromboses due to the presence of antiphospholipid antibodies. Adrenal insufficiency is a rare complication of antiphospholipid syndrome that may result in fatal outcomes if left ...
Yoshihito Iijima +3 more
doaj +1 more source
Guidance for the prevention and emergency management of adult patients with adrenal insufficiency.
Clinical medicine (London), 2020 Adrenal insufficiency (AI) is an often-unrecognised endocrine disorder, which can lead to adrenal crisis and death if not identified and treated. Omission of steroids in patients with AI, particularly during physiological stress such as an intercurrent ...
H. Simpson +4 more
semanticscholar +1 more source
Genetic variation of TLR4 influences immunoendocrine stress response: an observational study in cardiac surgical patients [PDF]
, 2011 Introduction: Systemic inflammation (e.g. following surgery) involves Toll-like receptor (TLR) signaling and leads to an endocrine stress response. This study aims to investigate a possible influence of TLR2 and TLR4 single nucleotide polymorphisms (SNPs)
Boehm, Olaf +9 more
core +2 more sources