Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.

• Tác giả: Chaitanya Datar, Ruma Deshpande, Rahul Jahagirdar, Anu Tresa
• Ngôn ngữ: eng
• Ký hiệu phân loại: 368.22 Ocean marine insurance
• Thông tin xuất bản: England : BMJ case reports , 2025
• Bộ sưu tập: NCBI
• ID: 166151

Tóm tắt

Familial glucocorticoid deficiency disorders are a group of autosomal recessive disorders with variable phenotypes. Early diagnosis aids with effective treatment. This case discusses a couple who had come with a history of neonatal deaths and a spontaneous abortion for genetic counselling regarding the current pregnancy. On obtaining relevant family and antenatal history, a targeted genetic testing showed that the fetus had a homozygous melanocortin-2 receptor (