Nonclassical 21-hydroxylase deficiency
MI New - The Journal of Clinical Endocrinology & Metabolism, 2006 - academic.oup.com
Context: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-
hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic …
hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic …
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
FG Riepe, WG Sippell - Reviews in Endocrine and Metabolic Disorders, 2007 - Springer
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an
autosomal-recessive disease causing cortisol deficiency, aldosterone deficiency and …
autosomal-recessive disease causing cortisol deficiency, aldosterone deficiency and …
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
MI New, M Abraham, B Gonzalez… - Proceedings of the …, 2013 - National Acad Sciences
Over the last two decades, we have extensively studied the genetics of congenital adrenal
hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA …
hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA …
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) occurs
worldwide. The most common mutations in the CYP21A2 gene in 716 unrelated patients …
worldwide. The most common mutations in the CYP21A2 gene in 716 unrelated patients …
Adrenal disease in pregnancy
O Lekarev, MI New - Best Practice & Research Clinical Endocrinology & …, 2011 - Elsevier
Adrenal disorders in pregnancy are relatively rare, yet can lead to significant maternal and
fetal morbidity. Making a diagnosis is challenging as pregnancy may alter the manifestation …
fetal morbidity. Making a diagnosis is challenging as pregnancy may alter the manifestation …
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first …
P Concolino, E Mello, V Toscano, F Ameglio, C Zuppi… - Clinica chimica acta, 2009 - Elsevier
BACKGROUND: More than 90% of the cases of Congenital Adrenal Hyperplasia (CAH) are
associated with mutations in 21-hydroxylase gene (CYP21A2). Up to now, large CYP21A2 …
associated with mutations in 21-hydroxylase gene (CYP21A2). Up to now, large CYP21A2 …
Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia
S Nimkarn, K Lin-Su, N Berglind… - The Journal of …, 2007 - academic.oup.com
Context: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21
OHD) is classified clinically in decreasing order of severity into salt-wasting, simple-virilizing …
OHD) is classified clinically in decreasing order of severity into salt-wasting, simple-virilizing …
[PDF][PDF] CYP21A2 gene mutations in congenital adrenal Hyperplasia: genotype− phenotype correlation in Turkish children
F Baş, H Kayserili, F Darendeliler… - Journal of clinical …, 2009 - jag.journalagent.com
Background: Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-
OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 …
OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 …
[HTML][HTML] The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency
Hydroxylase Deficiency (21-OH Deficiency) represents the most common form of Congenital
Adrenal Hyperplasia (CAH), a complex and heterogenous group of conditions …
Adrenal Hyperplasia (CAH), a complex and heterogenous group of conditions …
Prenatal diagnosis and treatment of congenital adrenal hyperplasia
S Nimkarn, MI New - Hormone research, 2007 - karger.com
Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme
deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia …
deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia …