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ea0093oc1 | Oral communication 1: Adrenal Diseases | EYES2023

Generation and characterization of CYP21A2-I173N MICE: A humanized mutant animal model for 21-hydroxylase deficiency

Thirumalasetty Shamini Ramkumar , Schubert Tina , Naumann Ronald , Reichardt Ilka , Rohm Marie-Luise , Landgraf Dana , Peitzsch Mirko , Sarov Mihail , Reisch Nicole , Huebner Angela , Koehler Katrin

Background: Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroidogenesis. The main form, 21-hydroxylase deficiency (21-OHD), results from mutations in the CYP21A2 gene. Patients experience hormone deficiencies, and excessive androgens which lead to various symptoms such as hypoglycemia, salt wasting, virilization, and early puberty. Therapy demands high glucocorticoid doses, causing significant side-effects. While new treatm...

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ea0090oc5.1 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

CYP21A2-R484Q mice, a humanized mutant animal model for congenital adrenal hyperplasia

Ramkumar Thirumalasetty Shamini , Schubert Tina , Naumann Ronald , Reichardt Ilka , Rohm Marie Luise , Landgraf Dana , Gembardt Florian , Peitzsch Mirko , Hartmann Michaela F , Sarov Mihail , Wudy Stefan A , Reisch Nicole , Huebner Angela , Koehler Katrin

Congenital Adrenal hyperplasia (CAH) refers to a group of autosomal-recessive inherited disorders of impaired adrenal steroidogenesis. The most common form is 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. Patients lack glucocorticoids and in some cases mineralocorticoids, and present with androgen excess causing hypoglycemia, live-threatening salt wasting, virilisation, and precocious puberty. Treatment includes the replacement of deficie...

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Endocrine Abstracts

Generation and characterization of CYP21A2-I173N MICE: A humanized mutant animal model for 21-hydroxylase deficiency

CYP21A2-R484Q mice, a humanized mutant animal model for congenital adrenal hyperplasia

BiosciAbstracts