A previously healthy 6 weeks old female infant is found unresponsive in her crib. In the emergency department, she is notedto be well developed and well nourished with normal blood pressure and appearance of the genitalia but with increased pigmentation other skin. Blood glucose level is 30 mg/dl.. The most likely diagnosis is:
Ans. b. Familial glucocorticoid deficiency Hypoglycemia, hyperpigmentation with normal BP and normal genitalia in a child points towards Familial glucocorticoid deficiency.Familial Glucocorticoid Deficiency* Familial glucocorticoid deficiency is a rare autosomal recessive condition.* It is characterized by adrenal insufficiency.Pathology:Pathological Examination of the Adrenal GlandZona glomerulosaWell preservedZona fasciculataAtrophiedZona reticularisAtrophiedThis causes low cortisol concentration because the zona fasciculata is primarily responsible for glucocorticoid production.* Zona glomerulosa is well preserved, mineralocorticoid action is usually unaffected.* Low circulating serum cortisol results in lack of feedback inhibition to the hypothalamus, which results in increased ACTH secretion from pituitary.Clinical features* Patients with familial glucocorticoid deficiency generally presents with signs and symptoms of''adrenal insufficiency" with the important distinction that mineralocorticoid production is always normal.* .VIC initial presenting sign is deep hyperpigmentation of the skin, mucous membrane or both as a result of the action of ACTH on cutaneous MSH receptors^.* The symptoms are compatible with glucocorticoid deficiency. May patients presents with recurrent hypoglycemia or severe infections.* In the neonatal period, frequent presenting signs include feeding problems, failure to thrive, regurgitation and hypoglycemia manifesting as seizures.
CAH due to 21-alpha hydroxylase deficiency
Familial glucocorticoid deficiency
Cushing syndrome
Insulinoma
Adrenal Gland