(Q36948280)

17 August 2017

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title

Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (English)

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congenital adrenal hyperplasia due to 21-hydroxylase deficiency

17 August 2017

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author name string

Felix G Riepe

series ordinal

1

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PubMed ID

17885806

17 August 2017

Wolfgang G Sippell

series ordinal

2

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17 August 2017

1 December 2007

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Reviews in Endocrine and Metabolic Disorders

17 August 2017

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17 August 2017

8

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17 August 2017

4

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17 August 2017

349-363

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https://scigraph.springernature.com/pub.10.1007/s11154-007-9053-1

17 August 2017

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cites work

Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-007-9053-1

Effects of Combined Gonadotropin-Releasing Hormone Agonist and Growth Hormone Therapy on Adult Height in Precocious Puberty: A Further Contribution

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-007-9053-1

NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-007-9053-1

Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry.

21 January 2018

1 reference

12 December 2020

Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis

1 reference

12 December 2020

How safe is long-term prenatal glucocorticoid treatment?

1 reference

12 December 2020

Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications

1 reference

12 December 2020

Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.

1 reference

12 December 2020

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland

1 reference

12 December 2020

Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.

1 reference

12 December 2020

Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice.

1 reference

12 December 2020

Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

1 reference

12 December 2020

Growth hormone, insulin-like growth factor and the kidney

1 reference

12 December 2020

Effect of adrenaline on glucose kinetics during exercise in adrenalectomised humans

1 reference

12 December 2020

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

1 reference

12 December 2020

Identification of a novel population of adrenal-like cells in the mammalian testis

1 reference

12 December 2020

Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise

1 reference

12 December 2020

Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia

1 reference

12 December 2020

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty.

1 reference

12 December 2020

Neonatal dexamethasone therapy: short- and long-term consequences.

1 reference

12 December 2020

Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia.

1 reference

12 December 2020

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus

1 reference

12 December 2020

Frequency of hypoglycemia in children with adrenal insufficiency

1 reference

12 December 2020

The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia

1 reference

12 December 2020

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions

1 reference

12 December 2020

Measurement of psychosexual differentiation

1 reference

12 December 2020

Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.

1 reference

12 December 2020

Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population

1 reference

12 December 2020

Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia

1 reference

12 December 2020

Hypoglycaemia during illness in children with congenital adrenal hyperplasia

1 reference

12 December 2020

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.

1 reference

12 December 2020

Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia.

1 reference

12 December 2020

Effects of long-term growth hormone therapy on adrenal steroidogenesis in Turner syndrome

1 reference

12 December 2020

Adrenaline: a physiological metabolic regulatory hormone in humans?

1 reference

12 December 2020

Modulation of 11beta-hydroxysteroid dehydrogenase isozymes by growth hormone and insulin-like growth factor: in vivo and in vitro studies

1 reference

12 December 2020

Prenatal Androgenization Affects Gender-Related Behavior But Not Gender Identity in 5–12-year-Old Girls with Congenital Adrenal Hyperplasia

1 reference

12 December 2020

High frequency of nonclassical steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Carotid-artery intima and media thickness as a risk factor for myocardial infarction and stroke in older adults. Cardiovascular Health Study Collaborative Research Group

1 reference

12 December 2020

Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry

1 reference

12 December 2020

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

1 reference

12 December 2020

The importance of adrenocortical glucocorticoids for adrenomedullary and physiological response to stress: a study in isolated glucocorticoid deficiency

1 reference

12 December 2020

Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Glucoregulation during exercise : the role of the neuroendocrine system

1 reference

12 December 2020

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

1 reference

12 December 2020

Metabolic syndrome, or What you will: definitions and epidemiology

1 reference

12 December 2020

Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society

1 reference

12 December 2020

Congenital adrenal hyperplasia.

1 reference

12 December 2020

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

1 reference

12 December 2020

How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?

1 reference

12 December 2020

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

1 reference

12 December 2020

Hypoglycemia during illness in children with congenital adrenal hyperplasia

1 reference

12 December 2020

The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens

1 reference

12 December 2020

A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia.

1 reference

12 December 2020

Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency

1 reference

12 December 2020

The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphrodism)

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty

1 reference

12 December 2020

Congenital adrenal hyperplasia: management during critical illness

1 reference

12 December 2020

Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

1 reference

12 December 2020

Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood

1 reference

12 December 2020

Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study

1 reference

12 December 2020

Prenatal diagnosis and treatment of 21-hydroxylase deficiency

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12 December 2020

Evaluation of neonatal screening for congenital adrenal hyperplasia

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12 December 2020

Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies

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12 December 2020

Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency

1 reference

12 December 2020

Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone

1 reference

12 December 2020

Long term outcome in adult males with classic congenital adrenal hyperplasia

1 reference

12 December 2020

Congenital adrenal hyperplasia

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12 December 2020

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.

1 reference

12 December 2020

Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone

1 reference

12 December 2020

Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone.

1 reference

12 December 2020

Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

1 reference

12 December 2020

Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population

1 reference

12 December 2020

Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia.

1 reference

12 December 2020

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

1 reference

12 December 2020

Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency

1 reference

12 December 2020

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency

1 reference

12 December 2020

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management

1 reference

12 December 2020

Fetal androgens and female gender identity in the early-treated adrenogenital syndrome

1 reference

12 December 2020

Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency

1 reference

12 December 2020

17 alpha-hydroxyprogesterone, 4-androstenedione, and testosterone profiled by routine stable isotope dilution/gas chromatography-mass spectrometry in plasma of children

1 reference

12 December 2020

Different gene defects in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH)

1 reference

12 December 2020

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.

1 reference

12 December 2020

Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report

1 reference

12 December 2020

Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Treatment of glucocorticoid-induced growth suppression with growth hormone. National Cooperative Growth Study

1 reference

12 December 2020

Mutations in steroid 21-hydroxylase (CYP21)

1 reference

12 December 2020

The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives

1 reference

12 December 2020

Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?

1 reference

12 December 2020

Congenital Adrenal Hyperplasia: Lessons from a Multinational Study

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12 December 2020

Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

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12 December 2020

Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise

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12 December 2020

Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction

1 reference

12 December 2020

Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia

1 reference

12 December 2020

Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings

1 reference

12 December 2020

Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia

1 reference

12 December 2020

Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound

1 reference

12 December 2020

Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.

1 reference

12 December 2020

Obesity in 21-hydroxylase deficient patients

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12 December 2020

Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue

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12 December 2020

Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries

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12 December 2020

Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors

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12 December 2020

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia

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12 December 2020

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

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12 December 2020

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia

1 reference

12 December 2020

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Effect of newborn screening for congenital adrenal hyperplasia

1 reference

12 December 2020

Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group

1 reference

12 December 2020

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

1 reference

12 December 2020

Current status of neonatal screening for congenital adrenal hyperplasia

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12 December 2020

Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency

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12 December 2020

Human behavioral sex differences: a role for gonadal hormones during early development?

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12 December 2020

Newborn screening for congenital adrenal hyperplasia in the Netherlands

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12 December 2020

Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome

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12 December 2020

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation

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12 December 2020

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

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12 December 2020

Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis

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12 December 2020

Dexamethasone treatment of virilizing congenital adrenal hyperplasia: the ability to achieve normal growth

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12 December 2020

Growth suppression by glucocorticoid therapy

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12 December 2020

Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.

1 reference

12 December 2020

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

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12 December 2020

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency

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12 December 2020

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

1 reference

12 December 2020

Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise

1 reference

12 December 2020

Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency

1 reference

12 December 2020

High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia

1 reference

12 December 2020

Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients

1 reference

12 December 2020

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry

1 reference

12 December 2020

Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth

1 reference

12 December 2020

Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia.

1 reference

12 December 2020

10.1007/S11154-007-9053-1

Identifiers

DOI

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17 August 2017

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PubMed ID

17885806