21-Deoxycortisol is a Screening Marker for 21-hydroxylase Deficiency

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Late diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2006-932899 ◽

2006 ◽

Vol 114 (S 1) ◽

Author(s):

K Müssig ◽

S Kaltenbach ◽

C Maser-Gluth ◽

MF Hartmann ◽

SA Wudy ◽

...

Keyword(s):

Late Diagnosis ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Classic Congenital Adrenal Hyperplasia ◽

The usefulness of plasma 21-deoxycortisol (21-DF) prior to and after ACTH for the diagnosis, therapy, and detection of heterozygosity in families with 21-hydroxylase deficiency

Acta Endocrinologica ◽

10.1530/acta.0.109s021 ◽

1985 ◽

Vol 110 (1_Suppla) ◽

pp. S21 ◽

Cited By ~ 1

Author(s):

U. HEINRICH ◽

A. MILEVICZ ◽

A. FIES ◽

T. ROMER ◽

D. HAACK

Keyword(s):

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency ◽

Diagnosis Therapy

The diagnosis of nonclassical congenital adrenal hyperplasia due to 21 hydroxylase deficiency in woman can be established by genetic testing or urine steroid profile analysis but not by ACTH stimulation test

Endocrine Abstracts ◽

10.1530/endoabs.32.p18 ◽

2013 ◽

Author(s):

Urszula Ambroziak ◽

Anna Kepczynska-Nyk ◽

Karolina Nowak ◽

Ewa Maria Malunowicz ◽

Emilia Morawska ◽

...

Keyword(s):

Genetic Testing ◽

Profile Analysis ◽

Adrenal Hyperplasia ◽

Acth Stimulation Test ◽

Acth Stimulation ◽

Hydroxylase Deficiency ◽

Steroid Profile ◽

21 Hydroxylase Deficiency ◽

Urine Steroid

Cardiovascular and metabolic risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Endocrine Abstracts ◽

10.1530/endoabs.63.p880 ◽

2019 ◽

Author(s):

Silvia Paredes ◽

Marta Alves ◽

Fabia Carvalho ◽

Maria Miguel Gomes ◽

Sofia Martins ◽

...

Keyword(s):

Risk Factors ◽

Children And Adolescents ◽

Metabolic Risk Factors ◽

Metabolic Risk ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Adrenal morphology in a large cohort of adult subjects with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Endocrine Abstracts ◽

10.1530/endoabs.63.p60 ◽

2019 ◽

Author(s):

Claudia Oriolo ◽

Daniela Ibarra Gasparini ◽

Paola Altieri ◽

Francesca Ruffilli ◽

Francesca Corzani ◽

...

Keyword(s):

Large Cohort ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Health status of children aged 8-18 years with 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

Endocrine Abstracts ◽

10.1530/endoabs.66.oc4.9 ◽

2019 ◽

Author(s):

Irina-Alexandra Bacila ◽

Sundus Mahdi ◽

Carlo L Acerini ◽

Ruth Krone ◽

Leena Patel ◽

...

Keyword(s):

Cohort Study ◽

United Kingdom ◽

Health Status ◽

Hydroxylase Deficiency ◽

The United Kingdom ◽

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

Yearbook of Paediatric Endocrinology ◽

10.1530/ey.16.8.5 ◽

2019 ◽

Author(s):

Speiser PW ◽

Arlt W ◽

Auchus RJ ◽

Baskin LS ◽

Conway GS ◽

...

Keyword(s):

Clinical Practice ◽

Clinical Practice Guideline ◽

Practice Guideline ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Endocrine Society ◽

Congenital adrenal hyperplasia in children due to 21-hydroxylase deficiency: clinical features, complications and approaches to their correction

SOVREMENNAYA PEDIATRIYA ◽

10.15574/sp.2015.68.123 ◽

2015 ◽

pp. 123-127

Author(s):

N. Zelinska ◽

◽

N. Pogadaeva ◽

E. Globa ◽

I. Shevchenko ◽

...

Keyword(s):

Clinical Features ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Faculty Opinions recommendation of The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1102137.557037 ◽

2008 ◽

Author(s):

Phyllis Speiser

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

External Genitalia ◽

Androgen Receptor Gene ◽

Cag Repeats ◽

Hydroxylase Deficiency ◽