Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia

Compound Heterozygosity ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency

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 ◽

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 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 ◽

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 Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

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

10.3410/f.1162755.624351 ◽

2009 ◽

Author(s):

Robert Dluhy ◽

Florencia Halperin

Keyword(s):

Molecular Characterization ◽

Family Members ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Faculty Opinions recommendation of Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

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

10.3410/f.2175956.1785054 ◽

2010 ◽

Author(s):

Phyllis Speiser

Keyword(s):

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

Human Genetics ◽

10.1007/bf00201668 ◽

1994 ◽

Vol 93 (4) ◽

Cited By ~ 34

Author(s):

PhyllisW. Speiser ◽

PerrinC. White ◽

Jacob Dupont ◽

Deguang Zhu ◽

ArleneB. Mercado ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Southern Blot ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Specific Hybridization ◽

Allele Specific ◽