An update to 21-hydroxylase deficient congenital adrenal hyperplasia

scientific article published on January 2010

An update to 21-hydroxylase deficient congenital adrenal hyperplasia is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

External links are
P356DOI10.3109/09513590903015494
P698PubMed publication ID19499408

P2093author name stringGeorge Basios
Ioannis Grammatikakis
Eftihios Trakakis
Demetrios Kassanos
George Labos
Pantelis Trompoukis
P2860cites workPhenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiencyQ32087378
Characterization of frequent deletions causing steroid 21-hydroxylase deficiencyQ33582394
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual developmentQ34498916
Extensive clinical experience: nonclassical 21-hydroxylase deficiencyQ34557782
Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasoneQ34587904
Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counselingQ34783027
21-hydroxylase-deficient nonclassic adrenal hyperplasia: the great pretenderQ35573541
Androgen excess in women: experience with over 1000 consecutive patientsQ35649621
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyQ35932779
21-Hydroxylase deficiency: from molecular genetics to clinical presentationQ36124060
Prenatal diagnosis and treatment of congenital adrenal hyperplasiaQ36626403
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.Q37072683
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyQ37356272
Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.Q37675412
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutationQ39133005
Steroidogenesis in the human skin: 21-hydroxylation in cultured keratinocytesQ40782889
Benign testicular tumors in children with congenital adrenal hyperplasiaQ43914016
Novel mutations in CYP21 detected in individuals with hyperandrogenism.Q44018177
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.Q44055114
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency alleleQ44337612
Combinatorial code of growth factors and neuropeptides define neuroendocrine differentiation in PC12 cellsQ44668520
Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exerciseQ44757088
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasiaQ46580958
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyQ46882318
The incidence of 21 alpha-hydroxylase deficiency in Greek hyperandrogenic women: screening and diagnosisQ48018533
Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effectsQ48342886
Glucocorticoids stimulate transcription of the rat phenylethanolamine N-methyltransferase (PNMT) gene in vivo and in vitroQ48476987
Studies of the neuronal transdifferentiation process in cultured human pheochromocytoma cells: effects of steroids with differing functional groups on catecholamine content and cell morphology.Q50855718
21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.Q51619878
Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia.Q51723583
Congenital adrenal hyperplasia.Q52010571
Congenital adrenal hyperplasiaQ56483508
Presence of fetal DNA in maternal plasma and serumQ57075132
P433issue1
P921main subjectcongenital disorderQ727096
P304page(s)63-71
P577publication date2010-01-01
P1433published inGynecological EndocrinologyQ5625187
P1476titleAn update to 21-hydroxylase deficient congenital adrenal hyperplasia
P478volume26

Reverse relations

cites work (P2860)
Q42202089A de novo mutation in CYP21A2 gene in a case of in vitro fertilization
Q37825558Acne-associated syndromes: models for better understanding of acne pathogenesis
Q51550913Genetic assessment following increased nuchal translucency and normal karyotype.
Q33635253Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center
Q43857652Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study
Q64278804Two cases of male patients followed for a classical form of congenital adrenal hyperplasia (CAH), presenting an azoospermia: analysis and review of the literature

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