Early diagnosis in familial glucocorticoid deficiency

ABSTRACT

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips. A low cortisol concentration, elevated ACTH level and normal electrolytes and aldosterone level all supported the diagnosis of primary glucocorticoid deficiency. Parents were counseled about the diagnosis, management and the lifelong requirement of steroids. FGD is an easily treatable disease when recognized but frequently missed due to a non-specific presentation. FGD is a treatable disease, delayed diagnosis and treatment can lead to significant morbidity.

KEYWORDS:

• glucocorticoid deficiency
• hyperpigmentation
• hypoglycemia
• mental disabilities
• seizure

Abbreviations

AAA	=	Allogrove or Achalasia-Addisonianism-Alacrimia syndrome
ACTH	=	adrenocorticotropic hormone
FGD	=	Familial glucocorticoid deficiency
MC2R	=	melanocortin 2 receptor gene
NNT	=	nicotinamide nucleotide transhydrogenase genes

Disclosure of potential conflicts of interest

No potential conflicts of interest were disclosed.

Acknowledgments

I would like to express my very great appreciation to Dr Tawfiq Hen, Jaishen Rajah, and Rajendran Nair for their support that without it this report was not reach here. Special thanks to Dr. Jaishen Rajah, his willingness to give his time so generously has been very much appreciated.