Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management
HL Claahsen-van der Grinten, PW Speiser… - Endocrine …, 2022 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …
Genetics of congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations
NMML Stikkelbroeck, LH Hoefsloot… - The Journal of …, 2003 - academic.oup.com
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most
common autosomal recessive disorders. The aim of this study was to assess the frequencies …
common autosomal recessive disorders. The aim of this study was to assess the frequencies …
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
C Deneux, V Tardy, A Dib, E Mornet… - The Journal of …, 2001 - academic.oup.com
Complete analysis of the CYP21 gene was performed in 56 unrelated French women with
symptomatic nonclassical congenital adrenal hyperplasia. The mutational spectrum and the …
symptomatic nonclassical congenital adrenal hyperplasia. The mutational spectrum and the …
[HTML][HTML] Update on the etiology, diagnosis and therapeutic management of sexual precocity
Precocious puberty is defined as the development of secondary sexual characteristics
before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious …
before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious …
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
DF de Carvalho, MC Miranda, LG Gomes… - European journal of …, 2016 - academic.oup.com
Background Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations
derived from conversion events involving the pseudogene, and the remaining carry new …
derived from conversion events involving the pseudogene, and the remaining carry new …
Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal …
R Marino, P Ramirez, J Galeano… - Clinical …, 2011 - Wiley Online Library
Objective To report genotype–phenotype correlation in a large cohort of patients. Context
Study of the CYP21A2 gene in 866 unrelated chromosomes of 21‐hydroxylase deficiency in …
Study of the CYP21A2 gene in 866 unrelated chromosomes of 21‐hydroxylase deficiency in …
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier
V Tardy, R Menassa, V Sulmont… - The Journal of …, 2010 - academic.oup.com
Context: Steroid 21-hydroxylase deficiency is the most common enzymatic defect causing
congenital adrenal hyperplasia with genotype/phenotype relationships for common …
congenital adrenal hyperplasia with genotype/phenotype relationships for common …
[HTML][HTML] Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia
LM Lousada, BB Mendonca… - Archives of endocrinology …, 2021 - SciELO Brasil
Primary adrenal insufficiency (PAI) is characterized by the inability of the adrenal cortex to
produce sufficient amounts of glucocorticoids and/or mineralocorticoids. Addison's disease …
produce sufficient amounts of glucocorticoids and/or mineralocorticoids. Addison's disease …
A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype
PW Speiser, ES Knochenhauer, D Dewailly… - Molecular Genetics and …, 2000 - Elsevier
Characteristic presentation of nonclassical adrenal hyperplasia (NCAH) due to 21-
hydroxylase deficiency was compared between women carrying a severe and a mild CYP21 …
hydroxylase deficiency was compared between women carrying a severe and a mild CYP21 …