Endocrine Abstracts

Introduction: Allgrove syndrome is a rare autosomal recessive disorder characterized by a Lacrima, achalasia, adrenal Insufficiency and Neurologic disorders. Mutation in (AAAS) gene on chromosome 12q13, has been implicated.

Case report: Eighteen-year-old male referred to the Endocrinology clinic for evaluation of suspected adrenal insufficiency. The patient reported generalized weakness, fatigue, anorexia recurrent fainting attacks, and progressive hyperpigmentation of the skin for 6 months. Regarding his past history. His mother noticed absence of tears since early childhood for which he was diagnosed as alacrimia and given tear substitutes. At the age of 12 he presented with progressive dysphagia more for liquids than solids. Clinical findings included; Weight: 38.5 kg, height: 163 cm, BMI: 14.5 kg/M². Pluse: 80/min, blood pressure was 80/60 with no postural variation. Dark pigmentation generalized more in back, side of chest and face. Neurological examination revealed wasting of thenar and hypothenar muscles, bilateral partial claw hand, he has generalized wasting but normal tone, power and reflexes, with preserved superficial and deep sensation, nasal twang of voice. pubic hair Tanner stage 4, peins (8 cm), and testis (5×3×2 cm). Baseline investigations revealed normal complete blood counts, serum creatinine and normal electrolytes (serum Na,137 mmol/L; serum K, 4.14 mmol/L). TSH: 3.7 μIU/ml (normal: 0. 33–5.5), free T4; 1.2 ng/dl (0.8–1.9), Free T3: 2.3 pg/ml. Basal serum cortisol (8:00 AM) was very low (0.5 μg/dL) normal range (10–20 μg/dL). Plasma ACTH levels were markedly elevated (1,250 pg/mL; normal range, 9 to 52 pg/mL). CT abdomen and pelvis were normal with no definite adrenal mass. Diagnosis of primary adrenal insufficiency was established. Barium swallow showed dilated thoracic oesophagus above the lower oesophageal. sphincter and bird beak appearance. Esophageal manometry showed; lower esophageal resting pressure was 27 mmHg,incomplete relaxation with swallows of 56% (N: 85–100%). The average amplitude of the distal esophageal body was low of 16 mmHg (N: 40–120 mmHg) confirming the diagnosis of achalasia cardia. Nerve conduction tests revealed radiculoneuropathy. On the basis of primary adrenal insufficiency (with normal mineralocorticoid balance), alacrimia, achalasia cardia, and peripheral neuropathy a diagnosis of Allgrove syndrome was established.

Conclusion: Allgrove syndrome is a multisystem disease and the cardinal manifestations may appear at any time from infancy to adulthood. Patients are likely prone to complications like Addisonian crisis, recurrent aspiration and failure to thrive.