ArticleJCEM case reports2026
Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by unresponsiveness to adrenocorticotropin (ACTH) with preserved mineralocorticoid secretion. We describe 2 patients who presented with FGD. The first patient was born to a third-degree consanguineous marriage, and suffered from global developmental delay and recurrent seizures since childhood. He presented to us at age 22 years with severe hyponatremia. Laboratory investigations showed subclinical hypothyroidism, low cortisol, high ACTH, and normal plasma renin activity. After exclusion of common causes of primary adrenal insufficiency (PAI), we undertook whole-exome sequencing (WES) that revealed 2 variants-a hemizygous deletion involving exons 10 to 21 of the
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