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 …

Management challenges and therapeutic advances in congenital adrenal hyperplasia

A Mallappa, DP Merke - Nature Reviews Endocrinology, 2022 - nature.com
Abstract Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s
following the discovery of the structure and function of adrenocortical hormones. Although …

Standards of care for the health of transgender and gender diverse people, version 8

E Coleman, AE Radix, WP Bouman… - … journal of transgender …, 2022 - Taylor & Francis
Background: Transgender healthcare is a rapidly evolving interdisciplinary field. In the last
decade, there has been an unprecedented increase in the number and visibility of …

European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the …

M Fassnacht, S Tsagarakis, M Terzolo… - European Journal of …, 2023 - academic.oup.com
Adrenal incidentalomas are adrenal masses detected on imaging performed for reasons
other than suspected adrenal disease. In most cases, adrenal incidentalomas are …

Treating the Side Effects of Exogenous Glucocorticoids; Can We Separate the Good From the Bad?

R Pofi, G Caratti, DW Ray, JW Tomlinson - Endocrine Reviews, 2023 - academic.oup.com
It is estimated that 2% to 3% of the population are currently prescribed systemic or topical
glucocorticoid treatment. The potent anti-inflammatory action of glucocorticoids to deliver …

Adrenal myelolipomas

J Calissendorff, CC Juhlin, A Sundin… - The lancet Diabetes & …, 2021 - thelancet.com
Adrenal myelolipomas are benign, lipomatous tumours with elements of myeloid cells, most
of which present as adrenal incidentalomas and comprise 3· 3–6· 5% of all adrenal masses …

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 …

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 …

Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia

RJ Auchus, O Hamidi, R Pivonello… - … England Journal of …, 2024 - Mass Medical Soc
Background Adrenal insufficiency in patients with classic 21-hydroxylase deficiency
congenital adrenal hyperplasia (CAH) is treated with glucocorticoid replacement therapy …

Towards improved genetic diagnosis of human differences of sex development

EC Délot, E Vilain - Nature Reviews Genetics, 2021 - nature.com
Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …