Results 271 to 280 of about 75,592 (343)

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

Experimental and clinical endocrinology & diabetes, 2020
Congenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21 ...
B. Carvalho, C.Joana Marques, Rita Santos-Silva, M. Fontoura, D. Carvalho, F. Carvalho   +5 more
semanticscholar   +1 more source

Bone mineral density and trabecular bone score in patients with 21‐hydroxylase deficiency after glucocorticoid treatment

Clinical Endocrinology, 2020
Patients with 21‐hydroxylase deficiency (21‐OHD) are at risk of reduced bone mineral density (BMD) and fracture due to long‐term glucocorticoid treatment.
Yinjie Gao, O. Wang, W. Guan, Xueyan Wu, J. Mao, Xi Wang, Wei Yu, M. Nie   +7 more
semanticscholar   +1 more source

Nonclassic 21-hydroxylase deficiency

Fertility and Sterility, 2006
Nonclassic 21-hydroxylase deficiency is a frequent autosomal recessive disorder which causes decreased fertility and is easily treated. It occurs with the highest frequency of any other autosomal recessive disorder in humans.
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Nonclassic 21-Hydroxylase Deficiency

Seminars in Reproductive Medicine, 2002
The nonclassic form of adrenal hyperplasia (NCAH) has been increasingly recognized in adolescent or adult hyperandrogenic patients. It is now widely accepted that neither the clinical presentation nor the androgen plasma levels can be used for the screening or diagnosis of NCAH in hyperandrogenic women, especially those presenting with a phenotype like
openaire   +2 more sources

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Clinical Endocrinology, 2020
One of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented.
Maki Gau, Kaoru Konishi, K. Takasawa, Ryuichi Nakagawa, Atsumi Tsuji‐Hosokawa, Atsuko Hashimoto, Akito Sutani, T. Tajima, T. Hasegawa, T. Morio, K. Kashimada   +10 more
semanticscholar   +1 more source

Steroid 21-Hydroxylase Deficiency in Mice*

Endocrinology, 1988
The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
H, Gotoh, T, Sagai, J, Hata, T, Shiroishi, K, Moriwaki   +4 more
openaire   +2 more sources

Recent Advances in 21-Hydroxylase Deficiency

Annual Review of Medicine, 1984
A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of 21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adrenal negative feedback system is broken, excess adrenal androgens are produced.
M I, New, L S, Levine
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Phenotypic evolution of classic 21-hydroxylase deficiency

Clinical Endocrinology, 1996
SummaryWe describe a female patient who was diagnosed and treated at birth for a classic form of salt‐losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea.
W H, Hoffman, M Y, Shin, P A, Donohoue, S W, Helman, S L, Brown, G, Rosculet, V B, Mahesh   +6 more
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21-Hydroxylase Deficiency

2018
The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced ...
openaire   +1 more source

Salt Wasting 21-Hydroxylase Deficiency

2021
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of cortisol biosynthesis in the adrenal cortex. 21-Hydroxylase deficiency (21-OHD) is the most common form of CAH. 21-OHD is further divided into classical and non-classical forms (NCAH). Most classical CAH patients have the salt wasting type of CAH (SW-CAH).
Dóra Török, Judit Tőke
openaire   +1 more source