Results 11 to 20 of about 63,700 (243)
CONGENITAL ADRENAL HYPERPLASIA
Urology Research and Practice, 2019 -
Kenan Karabay, Engin Öztan
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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
11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2023 Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen ...
Bipesh Kumar Shah +4 more
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Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY
Frontiers in Genetics, 2022 Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song +12 more
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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
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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
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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
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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
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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
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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
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