Rare forms of congenital adrenal hyperplasia
B Gurpinar Tosun, T Guran - Clinical Endocrinology, 2024 - Wiley Online Library
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to
pathogenic variants in genes encoding enzymes and cofactors involved in adrenal …
pathogenic variants in genes encoding enzymes and cofactors involved in adrenal …
Landscape of adrenal tumours in patients with congenital adrenal hyperplasia
Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia
(CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This …
(CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This …
Congenital adrenal hyperplasia and hypertension
BG Tosun, T Guran - Endocrine Hypertension, 2023 - Elsevier
Congenital adrenal hyperplasia (CAH) is a group of monogenic, autosomal recessive
disorders which are usually diagnosed in childhood. CAH is clinically manifested by …
disorders which are usually diagnosed in childhood. CAH is clinically manifested by …
Aldosteron und Niere–eine komplexe Interaktion
C Schwarz, G Lindner - Journal für Endokrinologie, Diabetologie und …, 2024 - Springer
Aldosteron ist ein Hormon mit dualer Wirkung auf die Niere. Es ist einerseits Teil eines
Regulationssystems zur Aufrechterhaltung des Natrium (= Volumen‑) Haushalts …
Regulationssystems zur Aufrechterhaltung des Natrium (= Volumen‑) Haushalts …
[HTML][HTML] Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report
KG Rashmi, L Ravichandran, A Roy… - Journal of the ASEAN …, 2023 - ncbi.nlm.nih.gov
The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency
of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases …
of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases …
Flash glucose monitoring system was applied to cortisol treatment for a patient with congenital adrenal hyperplasia and 17α-hydroxylase deficiency
C Xiang, M Han, Y Zhang, J Yin, L Pei, J Yang… - BMC Endocrine …, 2020 - Springer
Background Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase deficiency is a
rare disease; patients often require lifetime cortisol treatment. In this case report, we …
rare disease; patients often require lifetime cortisol treatment. In this case report, we …
Hiperplasia adrenal congénita asociada a mutación no descrita en el gen CYP17A1
CE Builes-Montaño, MV Rueda-Galvis… - Revista …, 2022 - revistaendocrino.org
Introduction: a defect in the CYP17A1 gene causes 17?-Hydroxylase/17, 20-lyase
deficiency. It encodes an enzyme that expresses both 17?-hydroxylase and 17, 20-lyase …
deficiency. It encodes an enzyme that expresses both 17?-hydroxylase and 17, 20-lyase …