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 …
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 …
[HTML][HTML] Intracrine androgen biosynthesis, metabolism and action revisited
Androgens play an important role in metabolic homeostasis and reproductive health in both
men and women. Androgen signalling is dependent on androgen receptor activation, mostly …
men and women. Androgen signalling is dependent on androgen receptor activation, mostly …
Disorders of sex development
SF Witchel - Best Practice & Research Clinical Obstetrics & …, 2018 - Elsevier
Highlights•Sex development depends on spatio-temporal sequence & coordination of
mutually antagonistic activating & repressing factors.•Disorders of sex development can be …
mutually antagonistic activating & repressing factors.•Disorders of sex development can be …
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
It is paramount that any child or adolescent with a suspected disorder of sex development
(DSD) is assessed by an experienced clinician with adequate knowledge about the range of …
(DSD) is assessed by an experienced clinician with adequate knowledge about the range of …
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 …
NADPH P450 oxidoreductase: structure, function, and pathology of diseases
Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple
metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 …
metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 …
Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism
Steroid biosynthesis and metabolism are reflected by the serum steroid metabolome and, in
even more detail, by the 24-hour urine steroid metabolome, which can provide unique …
even more detail, by the 24-hour urine steroid metabolome, which can provide unique …
A genetic-pathophysiological framework for craniosynostosis
Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides
a paradigm for investigating the interplay of genetic and environmental factors leading to …
a paradigm for investigating the interplay of genetic and environmental factors leading 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 …