Endocrinology, Diabetes & Metabolism Case Reports, 2017 PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene.
Teresa Rego +5 more
doaj +1 more source
Persistent expression of BMP-4 in embryonic chick adrenal cortical cells and its role in chromaffin cell development [PDF]
, 2008 Background: Adrenal chromaffin cells and sympathetic neurons both originate from the neural crest, yet signals that trigger chromaffin development remain elusive.
Huber, Katrin +39 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Hormonal aspects of overtraining syndrome: a systematic review
BMC Sports Science, Medicine and Rehabilitation, 2017 Background Overtraining syndrome (OTS), functional (FOR) and non-functional overreaching (NFOR) are conditions diagnosed in athletes with decreased performance and fatigue, triggered by metabolic, immune, hormonal and other dysfunctions and resulted from
Flavio A. Cadegiani, Claudio E. Kater
doaj +1 more source
A case report of rare, giant adrenal myelolipoma
Journal of Medical Sciences, 2021 Giant adrenal myelolipoma is a rare entity. It becomes evident due to symptoms of dragging sensation and discomfort or pain. We report hereby a rare case report giant adrenal myelolipoma.
Puneet Kumar +3 more
doaj +1 more source
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P +8 more
core
Factors predicting the duration of adrenal insufficiency in patients successfully treated for Cushing disease and nonmalignant primary adrenal Cushing syndrome [PDF]
, 2017 Successful treatment of Cushing syndrome causes transient or permanent adrenal insufficiency deriving from endogenous hypercortisolism-induced hypothalamus–pituitary–adrenal–axis suppression.
Pontecorvi, Alfredo +3 more
core +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
European multicentre study on outcome of surgery for sporadic primary hyperparathyroidism
BJS (British Journal of Surgery), EarlyView., 2020 Some 5861 patients undergoing first‐time surgery for sporadic primary hyperparathyroidism were registered in the Eurocrine® database between 2015 and 2018. The use of intraoperative parathyroid hormone measurement decreased the risk of conversion and persistent hypercalcaemia.
A. Bergenfelz +3 more
wiley +1 more source
Aldosterone-Regulating Receptors and Aldosterone-Driver Somatic Mutations
Frontiers in Endocrinology, 2021 BackgroundSomatic gene mutations that facilitate inappropriate intracellular calcium entrance have been identified in most aldosterone-producing adenomas (APAs).
Jung Soo Lim +6 more
doaj +1 more source