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 …
Novel treatments for congenital adrenal hyperplasia
MAM Schröder… - Reviews in Endocrine and …, 2022 - Springer
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
(21OHD) need life-long medical treatment to replace the lacking glucocorticoids and …
(21OHD) need life-long medical treatment to replace the lacking glucocorticoids and …
Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care
C Balagamage, A Arshad, YS Elhassan… - Clinical …, 2023 - Wiley Online Library
The adolescent period is characterised by fundamental hormonal changes, which affect sex
steroid production, cortisol metabolism and insulin sensitivity. These physiological changes …
steroid production, cortisol metabolism and insulin sensitivity. These physiological changes …
Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
BPH Adriaansen, MAM Schröder, PN Span… - Frontiers in …, 2022 - frontiersin.org
Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-
hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal …
hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal …
[图书][B] Genetic steroid disorders
MI New, B O'Malley, GD Hammer, O Lekarev, A Parsa… - 2023 - books.google.com
Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists,
clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists …
clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists …
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
M Kocova, V Anastasovska, H Falhammar - Endocrine, 2020 - Springer
Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-
hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the …
hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the …
[HTML][HTML] Transition readiness in adolescents and young adults living with congenital adrenal hyperplasia
K Ekbom, S Lajic, H Falhammar, A Nordenström - Endocrine Practice, 2023 - Elsevier
Objective Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that
affect cortisol biosynthesis and the need for glucocorticoid treatment is lifelong. The …
affect cortisol biosynthesis and the need for glucocorticoid treatment is lifelong. The …
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to
multiple complex hormonal imbalances caused by various enzyme deficiencies in the …
multiple complex hormonal imbalances caused by various enzyme deficiencies in the …
Care of the adolescent patient with congenital adrenal hyperplasia: special considerations, shared decision making, and transition
R Chawla, M Rutter, J Green, EM Weidler - Seminars in pediatric surgery, 2019 - Elsevier
The care of infants with congenital adrenal hyperplasia has recently been examined and
principles of shared decision making are being used to aid families at that crucial stage of …
principles of shared decision making are being used to aid families at that crucial stage of …
Psychoendocrinology of congenital adrenal hyperplasia
HFL Meyer-Bahlburg - Genetic steroid disorders, 2023 - Elsevier
The syndromes of congenital adrenal hyperplasia (CAH), particularly their classical variants,
present diverse medical and psychosocial challenges to the affected individual at all stages …
present diverse medical and psychosocial challenges to the affected individual at all stages …