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 …

Formation and cleavage of C–C bonds by enzymatic oxidation–reduction reactions

FP Guengerich, FK Yoshimoto - Chemical Reviews, 2018 - ACS Publications
Many oxidation–reduction (redox) enzymes, particularly oxygenases, have roles in reactions
that make and break C–C bonds. The list includes cytochrome P450 and other heme-based …

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women

E Carmina, D Dewailly… - Human reproduction …, 2017 - academic.oup.com
BACKGROUND Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase
deficiency is a common autosomal recessive disorder characterized by androgen excess …

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

AF Turcu, AT Nanba, R Chomic… - European journal of …, 2016 - academic.oup.com
Objective To comprehensively characterize androgens and androgen precursors in classic
21-hydroxylase deficiency (21OHD) and to gain insights into the mechanisms of their …

Testicular adrenal rest tumors: current insights on prevalence, characteristics, origin, and treatment

M Engels, PN Span, AE van Herwaarden… - Endocrine …, 2019 - academic.oup.com
This review provides the reader with current insights on testicular adrenal rest tumors
(TARTs), a complication in male patients with congenital adrenal hyperplasia (CAH). In …

Congenital adrenal hyperplasia

SF Witchel - Journal of pediatric and adolescent gynecology, 2017 - Elsevier
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders
that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase …

Androgens during the reproductive years: what is normal for women?

MA Skiba, RJ Bell, RM Islam… - The Journal of …, 2019 - academic.oup.com
Objective Whether serum androgen levels can identify women with “androgen insufficiency”
or “androgen excess” is unresolved; thus, what constitutes “normal” remains uncertain. We …

A new dawn for androgens: novel lessons from 11-oxygenated C19 steroids

E Pretorius, W Arlt, KH Storbeck - Molecular and cellular endocrinology, 2017 - Elsevier
The abundant adrenal C19 steroid 11β-hydroxyandrostenedione (11OHA4) has been
written off as a dead-end product of adrenal steroidogenesis. However, recent evidence has …

Long‐term health consequences of congenital adrenal hyperplasia

R Pofi, X Ji, NP Krone, JW Tomlinson - Clinical Endocrinology, 2024 - Wiley Online Library
Congenital adrenal hyperplasia (CAH) caused by 21‐hydroxylase deficiency accounts for
95% of all CAH cases and is one of the most common inborn metabolic conditions. The …

11-Oxygenated C19 Steroids Do Not Decline With Age in Women

AT Nanba, J Rege, J Ren, RJ Auchus… - The Journal of …, 2019 - academic.oup.com
Context The ovaries and adrenals are sources of androgens in women. Although
dehydroepiandrosterone (DHEA), DHEA sulfate (DHEAS), and testosterone (T) all decline …