Abstract
BackgroundFamilial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS) is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.Case presentationAn eight month old boy presented with increased genital pigmentation. Initial investigation revealed that he was glucocorticoid deficient and was started on hydrocortisone and fludrocortisone with a diagnosis of primary adrenal insufficiency. Later fludrocortisone was withdrawn and he was diagnosed to have isolated glucocorticoid deficiency. He later developed focal segmental glomerulosclerosis for which he underwent renal transplantation at the age of five years. Now at the age of twelve years, this boy is doing well on hydrocortisone treatment. His two siblings and a first degree cousin also had isolated glucocorticoid deficiency. One of the above two siblings died due to renal failure secondary to focal segmental glomerulosclerosis.ConclusionPatients with familial glucocorticoid deficiency should be carefully followed for development of features of nephrotic syndrome.
Highlights
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level resulting from Adrenocorticotrophic hormone (ACTH) resistance [1]
We present here a rare case of a patient with FGD associated with familial Focal segmental glomerulosclerosis (FSGS)
Later the diagnosis of primary adrenal insufficiency was re-visited based on laboratory results, when off fludrocortisone and hydrocortisone his serum cortisol decreased with highly elevated ACTH level but normal electrolytes and plasma rennin activity
Summary
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level resulting from ACTH resistance [1]. Hydrocortisone and fludrocortisone was started which he took for around 7–8 years His diagnosis was reviewed later in view of low serum cortisol, high ACTH level with normal plasma rennin activity and electrolytes when he was off medicines. Patient’s mother noticed same increased pigmentation on genitals of her nephew; his lab workup was consistent with isolated glucocorticoid deficiency and was started on steroid replacement He is 3 years of age with no evidence of nephrotic syndrome so far. In view of patient and siblings clinical presentation with low serum cortisol and high ACTH level with normal plasma renin activity, biopsy proven FSGS in both of them and consanguineous marriages, diagnosis of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis has been made
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