Endocrine Abstracts

Introduction:

Adrenocorticotropic hormone (ACTH) deficiency can occur either due to decreased or absent production of the hormone by the pituitary gland. A decline in the production of ACTH can result in adrenal insufficiency. The exact etiology of ACTH deficiency is unknown. A defect in the hypothalamus or pituitary gland may be the cause. This can also be congenital involving mutations of the TBX19 gene (also referred to as TPIT) on the long arm of chromosome one (1q23-q24) and the corticotropin releasing hormone (CRH) gene on the long arm of chromosome eight (8q13). The inheritance pattern is thought to be autosomal recessive.

Case report

The case report discusses the presentation of 66-year old lady with generalized weakness, blurred vision and diaphoresis. She presented twice to the emergency department with almost same symptoms or complaints. At first presentation, her hypoglycemic event was treated and considered as secondary to her poor oral intake. She was admitted on her second presentation and continued to have recurrent hypoglycemia during her hospital stay requiring emergency management. Her serum cortisol and ACTH levels were significantly low, but other pituitary hormone levels were within normal range. Short synacthen test showed adequate adrenal response, however; long synacthen test was inconclusive. Computed tomography (CT) of the adrenal glands was normal.

Treatment/Outcome

She recovered symptomatically with hormone replacement therapy with cortisol initially through intravenous route and later orally. She was advised follow-up with out-patient magnetic resonance imaging of pituitary gland and possible genetic testing.

Conclusion:

Isolated ACTH deficiency presents with general symptoms that sometimes delay the diagnosis or it is missed entirely. Early consideration of this entity is anticipated to facilitate making an early diagnosis.