Results 41 to 50 of about 2,389,640 (367)

Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency [PDF]

, 2011
A single measurement of serum 17α-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal ...
Barnes, Cavallo, Charmandari, Choong Ho Shin, Colak, Conway, Gardner, Ghizzoni, Hindmarsh, Horton, Ilondo, Keenan, Korth-Schutz, Luboshitzky, Min Jae Kang, Sei Won Yang, Shin Mi Kim, Speiser, Speiser, Strott, Strott, Unlühizarci, von Schnakenburg, Yi, Young Ah Lee   +24 more
core   +2 more sources

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the ...
Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park   +6 more
doaj   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

Endocrine Connections, 2019
Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; nonclassical, NC) depending on residual 21-hydroxylase activity.
Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike   +14 more
doaj   +1 more source

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children [PDF]

, 2009
Background: Congenital adrenal hyperplasia (CAH) due 21−hydroxylase deficiency (21−OHD) is a common autosomal recessive disorder.
Atalar, Fatmahan, Baş, Firdevs, Bundak, Rüveyde, Darendeliler, Feyza, Günöz, Hülya, Kayserili, Hülya, New, Maria I., Saka, Nurçin, Uyguner, Oya, Wilson, Robert C., Wollnik, Bernd, Yüksel Apak, Memnune   +11 more
core   +2 more sources

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: laboratory criteria for the diagnosis and control of treatment efficacy

Mìžnarodnij Endokrinologìčnij Žurnal, 2019
Non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the actual causes of hyperandrogenic manifestations at different age intervals.
O.V. Rykova
doaj   +1 more source

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

Human Reproduction Update, 2017
BACKGROUND Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess.
E. Carmina, D. Dewailly, H. Escobar-Morreale, F. Keleştimur, C. Morán, S. Oberfield, S. Witchel, R. Azziz   +7 more
semanticscholar   +1 more source

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka [PDF]

, 2018
: Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal ...
Doleschall, Márton, Fekete, György, Halász, Zita, Igaz, Péter, Kiss, Róbert, Luczay, Andrea, Mészáros, Katalin, Németh, Krisztina, Patócs, Attila Balázs, Szücs, Nikolette, Sólyom, János, Tóth, Miklós, Török, Dóra, Tőke, Judit   +13 more
core   +2 more sources

Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

Journal of Medical Case Reports, 2013
Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela, Martins João Martin, do Vale Sónia, Esteves Rui, Nunes Garção, Carmo Isabel do   +5 more
doaj   +1 more source

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe [PDF]

, 2022
Dexamethasone; PrenatalDexametasona; PrenatalDexametasona; PrenatalObjective To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency ...
Ahmed, S. Faisal, Baronio, Federico, Battelino, Tadej, Neumann, Uta, Nowotny, Hanna, Tardy-Guidollet, Véronique, Yeste Fernandez, Diego   +6 more
core   +1 more source