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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 …
Management challenges and therapeutic advances in congenital adrenal hyperplasia
Abstract Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s
following the discovery of the structure and function of adrenocortical hormones. Although …
following the discovery of the structure and function of adrenocortical hormones. Although …
Phase 3 trial of crinecerfont in adult congenital adrenal hyperplasia
Background Adrenal insufficiency in patients with classic 21-hydroxylase deficiency
congenital adrenal hyperplasia (CAH) is treated with glucocorticoid replacement therapy …
congenital adrenal hyperplasia (CAH) is treated with glucocorticoid replacement therapy …
Caring for individuals with a difference of sex development (DSD): a consensus statement
The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …
development) refers to a heterogeneous group of congenital conditions affecting human sex …
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase
deficiency clinical practice guideline published by the Endocrine Society in 2010 …
deficiency clinical practice guideline published by the Endocrine Society in 2010 …
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
DP Merke, RJ Auchus - New England Journal of Medicine, 2020 - Mass Medical Soc
CAH Due to 21-Hydroxylase Deficiency Congenital adrenal hyperplasia, a common
autosomal recessive disorder, is potentially life-threatening in its classic form and may be …
autosomal recessive disorder, is potentially life-threatening in its classic form and may be …
Management of endocrine disease: diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency
A Nordenström, H Falhammar - European journal of …, 2019 - academic.oup.com
Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder
regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline …
regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline …
Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
GP Finkielstain, MS Kim, N Sinaii… - The Journal of …, 2012 - academic.oup.com
Context: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term
complications secondary to chronic glucocorticoid therapy and suboptimal treatment …
complications secondary to chronic glucocorticoid therapy and suboptimal treatment …
Steroid 17-hydroxylase and 17, 20-lyase deficiencies, genetic and pharmacologic
RJ Auchus - The Journal of steroid biochemistry and molecular …, 2017 - Elsevier
Abstract Steroid 17-hydroxylase 17, 20-lyase (cytochrome P450c17, P450 17A1, CYP17A1)
catalyzes two major reactions: steroid 17-hydroxylation followed by the 17, 20-lyase …
catalyzes two major reactions: steroid 17-hydroxylation followed by the 17, 20-lyase …