Results 1 to 10 of about 119,685 (338)

21-Hydroxylase deficiency in Brazil [PDF]

Brazilian Journal of Medical and Biological Research, 2000
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series
T.A.S.S. Bachega, A.E.C. Billerbeck, G. Madureira, J.A.M. Marcondes, C.A. Longui, M.V. Leite, I.J.P. Arnhold, B.B. Mendonça   +7 more
doaj   +5 more sources

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency [PDF]

Frontiers in Endocrinology, 2023
Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang   +13 more
doaj   +2 more sources

Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review [PDF]

Frontiers in Endocrinology
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder affecting adrenal steroidogenesis, leading to cortisol deficiency, androgen oversecretion and adrenal glands’ hyperplasia.
Zuzanna Roszkowska, Małgorzata Bobrowicz, Joanna Betlejewska, Joanna Betlejewska, Joanna Hubska, Joanna Hubska, Beata Rak-Makowska, Beata Rak-Makowska, Urszula Ambroziak   +8 more
doaj   +2 more sources

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency [PDF]

Frontiers in Endocrinology
In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway.
Beata Woźniak, Dorota Leszczyńska, Alicja Szatko, Alicja Szatko, Karolina Nowak, Radosław Samsel, Anna Siejka, Lucyna Papierska, Wojciech Zgliczyński, Henrik Falhammar, Henrik Falhammar, Piotr Glinicki, Piotr Glinicki   +12 more
doaj   +2 more sources

IS CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY DECEPTIVE DISEASE? MANAGEMENT AND DIFFERENTIATION OF SYNDROME IN ADULTS

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   +3 more sources

CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region [PDF]

Genetics and Molecular Biology, 2008
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated ...
Tarcísio André Amorim de Carvalho, Izabel Cristina Neves de Souza, France Keiko Nascimento Yoshioka, Milena Coelho Fernandes Caldato, Nilza Nei Torres, Lena Stilianidi Garcia, João Farias Guerreiro   +6 more
doaj   +2 more sources

High‐Dose Hormone Replacement Therapy Improved Embryo Transfer Outcomes in a Woman With 21‐Hydroxylase Deficiency Who Had Persistently High Serum Progesterone Levels: A Case Report and Literature Review [PDF]

Clinical Case Reports
Women with 21‐hydroxylase deficiency have reduced fertility because of excessive production of adrenal androgen and progesterone, which can inhibit folliculogenesis, disturb the normal gonadotropin secretion pattern and development of the endometrium ...
Yuri Mizusawa, Hiroaki Shibahara, Masahide Shiotani   +2 more
doaj   +2 more sources

Hydrocortisone dosage at 3 years of age is positively correlated with body mass index at 10 years in individuals with 21-hydroxylase deficiency. [PDF]

Clin Pediatr Endocrinol
Miyahara Y, Hata A, Wada T, Maeyama T, Nishigaki S, Ida S, Etani Y, Kawai M.   +7 more
europepmc   +3 more sources

Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. [PDF]

J Clin Endocrinol Metab
Sandberg DE, Gardner M, Lapham ZK.
europepmc   +2 more sources

Specific characteristics of metabolomics as assessed by gas chromatography-mass spectrometry in patients with adrenocortical cancer and with adrenal incidentalomas in congenital adrenal hyperplasia

Alʹmanah Kliničeskoj Mediciny, 2022
Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina, Ludmila I. Velikanova, Natalia V. Vorokhobina, Ekaterina V. Malevanaya, Elena G. Strelnikova, Vagan Yu. Bokhian, Timur A. Britvin, Ivan S. Stilidi   +7 more
doaj   +1 more source