Clinical and Medical Case Reports

Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University,, Al-Qunfudah, Makkah Province, Saudi Arabia

Publications

• Case Report   
  A Female Infant with Familial Glucocorticoid Deficiency Type 1 (FGD1) Presented with Adrenal Crisis in Southwestern Saudi Arabia: A Case Report
  Author(s): Somaya Alzelaye*, Elnazeer Huien, Thowiba Awad, Mosad Odah, Ashraf Ewis and Mohamed Ehefny
  
  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 associa.. Read More»
  DOI: 10.37421/2684-4915.2022.6.201

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