Somaya Alzelaye1 *, Elnazeer Huien1,2, Thowiba Awad2 , Mosad Odah3,4, Ashraf Ewis5,6 and Mohamed Ehefny 7,8
An isolated glucocorticoid deficiency with preserved mineralocorticoids is the main characteristic of familial glucocorticoid type 1. We report an unusual presentation of FGD1 in a 40-days-old female infant with shock and mineralocorticoid deficiency. Her parents noted that she started to have generalized hyperpigmentation of the skin and poor feeding, then they presented her to the hospital with severe hypoglycemia, convulsions and shock. Further laboratory investigations showed hyponatremia with hyperkalemia, very high ACTH, and very low cortisol levels during stress. A diagnosis of FGD1 was established by genetic analysis; Whole Exome Sequencing "WES", which, confirmed the diagnosis and showed a pathogenic variant consistent with MC2R, NM_000529.2:c.760T> G (p.Tyr254Asp). To our knowledge, this variant has not previously been reported in association with MC2R-related conditions; and it may have adversely affected the protein structure and/or function and is potentially responsible for the adrenal crisis in this FGD patient. Once the hydrocortisone replacement therapy was started, the patient's dark skin returned to normal color as her parents, and her symptoms significantly improved. We conclude that early recognition of the symptoms and sings of FGD and confirmation by paired investigation of serum cortisol and ACTH levels as well as genetic analysis is essential to establish the diagnosis and start early treatment with hydrocortisone to prevent its-related morbidity and mortality.
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