CYP21A2 intronic variants causing 21-hydroxylase deficiency

10.1016/j.metabol.2017.03.003 ◽

2017 ◽

Vol 71 ◽

pp. 46-51 ◽

Author(s):

Paola Concolino ◽

Roberta Rizza ◽

Alessandra Costella ◽

Cinzia Carrozza ◽

Cecilia Zuppi ◽

...

Keyword(s):

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency ◽

Intronic Variants

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Abstract #805: Male Infertility in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Endocrine Practice ◽

10.1016/s1530-891x(20)43657-2 ◽

2005 ◽

Vol 11 ◽

pp. 4-5

Author(s):

Shanjian Zhu ◽

Harris C. Taylor ◽

Baha Arafah ◽

Thomas A. Murphy

Keyword(s):

Male Infertility ◽

Congenital Adrenal Hyperplasia ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

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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):

Congenital Adrenal Hyperplasia ◽

Late Diagnosis ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Classic Congenital Adrenal Hyperplasia ◽

21 Hydroxylase Deficiency

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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 ◽

Author(s):

U. HEINRICH ◽

A. MILEVICZ ◽

A. FIES ◽

T. ROMER ◽

D. HAACK

Keyword(s):

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency ◽

Diagnosis Therapy

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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 ◽

Congenital Adrenal Hyperplasia ◽

Profile Analysis ◽

Adrenal Hyperplasia ◽

Acth Stimulation Test ◽

Acth Stimulation ◽

Hydroxylase Deficiency ◽

Steroid Profile ◽

21 Hydroxylase Deficiency ◽

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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 ◽

Congenital Adrenal Hyperplasia ◽

Children And Adolescents ◽

Metabolic Risk Factors ◽

Metabolic Risk ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

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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):

Congenital Adrenal Hyperplasia ◽

Large Cohort ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

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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 ◽

21 Hydroxylase Deficiency

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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 ◽

Congenital Adrenal Hyperplasia ◽

Clinical Practice Guideline ◽

Practice Guideline ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Endocrine Society ◽

21 Hydroxylase Deficiency

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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):

Congenital Adrenal Hyperplasia ◽

Clinical Features ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

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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 ◽

21 Hydroxylase Deficiency

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