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 …

Caring for individuals with a difference of sex development (DSD): a consensus statement

M Cools, A Nordenström, R Robeva, J Hall… - Nature Reviews …, 2018 - nature.com
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 …

Let's call the whole thing off: evaluating gender and sex differences in executive function

NM Grissom, TM Reyes - Neuropsychopharmacology, 2019 - nature.com
The executive functions allow for purposeful, deliberate, and intentional interactions with the
world—attention and focus, impulse control, decision making, and working memory. These …

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

PW Speiser, W Arlt, RJ Auchus… - The Journal of …, 2018 - academic.oup.com
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase
deficiency clinical practice guideline published by the Endocrine Society in 2010 …

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 …

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 …

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 …

Update on the management of breast cancer during pregnancy

F Poggio, M Tagliamento, C Pirrone, D Soldato… - Cancers, 2020 - mdpi.com
Simple Summary The diagnosis of cancer during pregnancy represents a challenging
situation, leading to a complex management aimed at maximizing the curative approach to …

Pregnancy and prenatal management of congenital adrenal hyperplasia

G Cera, P Locantore, R Novizio, E Maggio… - Journal of Clinical …, 2022 - mdpi.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases that may
cause cortisol insufficiency together with other hormonal alterations. The most common form …

Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia

L Karlsson, A Gezelius, A Nordenström… - Clinical …, 2017 - Wiley Online Library
Objective Impaired cognition has been reported in patients with congenital adrenal
hyperplasia (CAH), although the findings have been conflicting. It has been hypothesized …