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 …

[HTML][HTML] Basics of androgen synthesis and action

RN Elzenaty, T Du Toit, CE Flück - Best Practice & Research Clinical …, 2022 - Elsevier
Androgens are essential sex steroid hormones for both sexes. Testosterone (T) is the
predominant androgen in males, while in adult females, T concentrations are about 15-fold …

Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking

Z Huang, S Sun, M Lee, AY Maslov, M Shi… - Nature …, 2022 - nature.com
Although lung cancer risk among smokers is dependent on smoking dose, it remains
unknown if this increased risk reflects an increased rate of somatic mutation accumulation in …

Considering sex as a biological variable in basic and clinical studies: an endocrine society scientific statement

A Bhargava, AP Arnold, DA Bangasser… - Endocrine …, 2021 - academic.oup.com
Abstract In May 2014, the National Institutes of Health (NIH) stated its intent to “require
applicants to consider sex as a biological variable (SABV) in the design and analysis of NIH …

Paediatric and adult-onset male hypogonadism

A Salonia, G Rastrelli, G Hackett… - Nature reviews Disease …, 2019 - nature.com
The hypothalamic–pituitary–gonadal axis is of relevance in many processes related to the
development, maturation and ageing of the male. Through this axis, a cascade of …

The aldo-keto reductases (AKRs): Overview

TM Penning - Chemico-biological interactions, 2015 - Elsevier
The aldo-keto reductase (AKR) protein superfamily contains> 190 members that fall into 16
families and are found in all phyla. These enzymes reduce carbonyl substrates such as …

Congenital adrenal hyperplasia

D El-Maouche, W Arlt, DP Merke - The Lancet, 2017 - thelancet.com
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …

Normal and premature adrenarche

RL Rosenfield - Endocrine reviews, 2021 - academic.oup.com
Adrenarche is the maturational increase in adrenal androgen production that normally
begins in early childhood. It results from changes in the secretory response to …

Steroidogenesis: unanswered questions

WL Miller - Trends in Endocrinology & Metabolism, 2017 - cell.com
Until the mid-1980s studies of steroidogenesis largely depended on identifying steroid
structures and measuring steroid concentrations in body fluids. The molecular biology …

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 …