Results 121 to 130 of about 423,582 (318)
Congenital lipoid adrenal hyperplasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and
openaire +4 more sources
Congenital Adrenal Hyperplasia
Pediatrics in ReviewAbstractWe describe congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the most common primary adrenal insufficiency in children and adolescents. In this comprehensive review of CAH, we describe presentations at different life stages depending on disease severity.
Sharma L, Momodu II, Singh G.
europepmc +5 more sources
Brazilian Journal of Medical and Biological Research, 2000 Recent studies from several groups have indicated that abnormal or ectopic expression and function of adrenal receptors for various hormones may regulate cortisol production in ACTH-independent hypercortisolism.
Lacroix A. +4 more
doaj
FURTHER STUDIES ON THE TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA WITH CORTISONE: V. EFFECTS OF CORTISONE THERAPY ON TESTICULAR DEVELOPMENT*† [PDF]
, 1954 Lawson Wilkins, José Cara
openalex +1 more source
Journal of Clinical Endocrinology and Metabolism, 2015 CONTEXT Bilateral adrenalectomy is the reference treatment for Cushing's syndrome (CS) related to primary bilateral macronodular adrenal hyperplasia (PBMAH). It is, however, responsible for definitive adrenal insufficiency.
E. Debillon +11 more
semanticscholar +1 more source
Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, EarlyView.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
wiley +1 more source
Pre-hospital management of acute Addison’s Disease – Audit of patients attending a referral hospital in a regional area [PDF]
, 2019 Context: Adrenal crises (AC) cause morbidity and mortality in patients with Addison’s disease [primary adrenal insufficiency (PAI)]. Patient-initiated oral stress dosing, with parenteral hydrocortisone, is recommended to avert ACs. While these should be
Goubar, Thomas +3 more
core +1 more source
Differential diagnosis of adrenal masses by chemical shift and dynamic gadolinium enhanced MR imaging. [PDF]
, 2003 Chemical shift MRI is widely used for identifying adenomas, but it is not a perfect method. We determined whether combined dynamic MRI methods can lead to improved diagnostic accuracy.
Akaki, Shiro +5 more
core +1 more source
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.
PLoS ONE, 2015 BackgroundNeurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors, individuals with NF1 often exhibit endocrine abnormalities such as precocious puberty (2,5-5% of NF1
Karolina Kobus +14 more
doaj +1 more source
ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study. [PDF]
, 2019 Background We recently found that ARMC 5 variants may be associated with primary aldosteronism in blacks. We investigated a cohort from the MH - GRID (Minority Health Genomics and Translational Research Bio-Repository Database) and tested the association
Berthon, Annabel +8 more
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