6 weeks old female baby found unconscious suddenly in the crib. She was previously healthy. Normal blood pressure, hyperpigmentation of genitals, blood glucose 30 mg/dl. Diagnosis is aEUR'
Familial glucocoicoid deficiency Familial glucocoicoid deficiency is a rare autosomal recessive condition. It is characterized by adrenal insufficiency. The pathological examination of the adrenal gland reveals that:- This causes low coisol concentration because the zona fasciculata is primarily responsible for glucocoicoid production. Because the zona glomerulosa is well preserved mineralocoicoid action is usually unaffected. Low circulating serum coisol results in lack of feedback inhibition to the hypothalamus which results in increased ACTH secretion from pituitary. Clinical features Patients with .familial glucocoicoid deficiency generally presents with signs and symptoms of adrenal insufficiency with the impoant distinction that mineralocoicoid production is always normal. The most common initial presenting sign is "deep hyperm,ementation" of the skin, mucous membrane or both as a result of the action of adrenocoicotrophic hormone (ACTH) on cutaneous melanocyte stimulating hormone (MSH) receptors. The symptoms are compatible with glucocoicoid deficiency. Many patients presents 4vith 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 glucocoicoid deficiency
Cushing syndrome
Insulinoma