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

Abstract

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 (MC2R) gene mutation. Subsequently, the baby was delivered late preterm, with hyperpigmentation. Hydrocortisone was initiated early and post-treatment, and the baby showed stable electrolytes and did not develop hypoglycaemia. The case emphasises the importance of early genetic testing and counselling, especially in consanguineous couples, for better disease management. A multidisciplinary approach, involving paediatric genetics, endocrinology and neonatology, was crucial in achieving a positive outcome. This case highlights the potential of next-generation sequencing tools in identifying hereditary adrenal insufficiency, enabling timely intervention and improved patient care.