A CASE OF FAMILIAL GLUCOCORTICOID RESISTANCE SYNDROME PRESENTING WITH HYPOKALEMIC PARALYSIS AND HYPERTENSION

Abstract

INTRODUCTION
Familial glucocorticoid resistance syndrome (FGRS) is a rare condition leading to compensatory ACTH hypersecretion and excess adrenal steroid production. Patients often present with mineralocorticoid and androgen excess but without features of Cushing’s syndrome.

CASE
A 17-year-old, male, Malay was referred for recurrent episodes of acute paralysis secondary to hypokalaemia and concomitant hypertension since the age of 7 years. Investigations showed persistent hypokalaemia with metabolic alkalosis. Clinically, he was not dysmorphic, taller for his age, increased skin pigmentation and was in pubertal with testicular volume of 6 ml and stretched penile length of 7 cm. Laboratory investigations showed a very marked increase in random serum cortisol of more than 2000 with elevated ACTH level. Luteinizing hormone-releasing hormone (LHRH) test confirmed a diagnosis of peripheral precocious puberty. Adrenal ultrasound did not show any suspicion of malignancy. He was started on oral dexamethasone and anti-hypertensive. He showed some improvement clinically and biochemically with no further history of paralysis and improvement in serum cortisol and potassium levels.

This patient presentation is consistent with FGRS where impaired cortisol signaling leads to compensatory increase in ACTH causing excess mineralocorticoid and sex hormones. Management focuses on reducing ACTH stimulation using high-dose dexamethasone and addressing complications such as hypertension and electrolyte imbalances.

CONCLUSION
Careful evaluation of a child presenting with unexplained hypertension, hypokalaemia and hyperpigmentation is very important. Early diagnosis is crucial for appropriate management and genetic counselling.