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

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