Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene

Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene

Familial glucocorticoid deficiency is caused by variants in the MC2R and MRAP genes. We report an Iranian patient with congenital glucocorticoid deficiency and cholestasis due to pathogenic variants in the MC2R gene. This is the first documented case of a patient with conditions. Clinical evaluation...

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Bibliographic Details
Main Authors: Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2024/3201949
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