Results 11 to 20 of about 72,115 (280)
Congenital Adrenal Hyperplasia [PDF]
Journal of Pediatric and Adolescent Gynecology, 2017 The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21.
Diala, El-Maouche +2 more
openaire +5 more sources
Congenital adrenal hyperplasia [PDF]
Dermato-Endocrinology, 2009 Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency.
Dessinioti, Cleo, Katsambas, Andreas
openaire +2 more sources
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
Journal of Nepal Medical Association, 2020 Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal +3 more
doaj +1 more source
Macronodular adrenal hyperplasia masquerading as an upper pole renal mass
Urology Case Reports, 2021 Macronodular hyperplasia (MAH) of the adrenal gland is a rare disease usually presenting with Cushing Syndrome. Although usually readily apparent on imaging, an adrenal tumor in an asymptomatic patient may be mistaken for a renal tumor.
Jeunice Owens-Walton +4 more
doaj +1 more source
The Use of Routine Laboratory 17-Hydroxyprogesterone for Identification of Cases of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. [PDF]
Clin Endocrinol (Oxf)ABSTRACT Background Clinical outcome studies of 21‐hydroxylase deficiency congenital adrenal hyperplasia (21OHD CAH) may be subject to selection bias due to incomplete case ascertainment. This study aimed to develop a methodology for identifying existing CAH cases and explore its utility to study clinical outcomes. Methods 17‐hydroxyprogesterone assays
McElvaney J +7 more
europepmc +2 more sources
Beta-Catenin Causes Adrenal Hyperplasia by Blocking Zonal Transdifferentiation
Cell Reports, 2020 Summary: Activating mutations in the canonical Wnt/β-catenin pathway are key drivers of hyperplasia, the gateway for tumor development. In a wide range of tissues, this occurs primarily through enhanced effects on cellular proliferation.
Emanuele Pignatti +12 more
doaj +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
Праці Наукового товариства імені Шевченка. Медичні науки, 2017 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi ciency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone ...
Anna Nowak
doaj +1 more source
BJS (British Journal of Surgery), EarlyView., 2020 This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek +18 more
wiley +1 more source
Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]
, 2018 Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio +25 more
core +2 more sources