Endocrine Abstracts

Introduction: Primary adrenal insufficiency (PAI) is a rare disease with a prevalence of 82–144 cases/milion. The etiology of PAI is represented primarily by autoimmune adrenalitis, followed by tuberculosis and less common by fungal infections, HIV, hemorrage in adrenal glands, certain drugs and by some genetic disorders such as Triple A syndrome (AAA), Adrenoleukodystrophy (ALD), congenital adrenal hypoplasia, congenital adrenal hyperplasia, etc.

Case presentation: A 19-years old male diagnosed with moderate mental retardation is admitted to our clinic complaining about the appearence of few dark spots on his tongue and chronic dysphagia for both solids and liquids. He has a sister with subclinical hypothyroidism and his mother, with type 2 diabetes mellitus, suffered a myocardial infarction at 40 years old. Clinical findings included: BMI = 17.9 kg/m², generalized hyperpigmentation of teguments and darken patches on the dorsal surface of his tongue, normal body and facial hair, important muscular hypotrophy on lower limbs, bilateral pes cavus and hammer toes. Blood pressure was 100/60 mmHg with no postural variation. Adrenal insufficiency was confirmed by low 0800 h serum cortisol (1.92 µg/dl; normal values: 6-22 µg/dl) with high ACTH (1320 pg/ml; normal values: 16-65 pg/ml), low-normal aldosterone level in upright position (25.3 pg/ml) and normal renin. Thyroid function, antithyroglobulin and anti-TPO antibodies, 17-OH progesterone, testosterone, LH, FSH, PTH and electrolytes were in the normal range. Abdominal computed tomography revealed enlarged left adrenal gland. The patient started replacement therapy with 20 mg hydrocortisone and 0.1 mg fludrocortisone per day. We excluded tuberculosis. Neurological examination revealed peripheral axonal sensorimotor polyneuropathy. The MRI of the brain showed a 9.5 mm arachnoid cyst, no signs of demyelination and no imagistic arguments for leukodystrophy. Further investigations, 21-hydroxylase antibody, very long chain fatty acids (VLCFA) levels and esophageal manometry, are needed in order to establish the etiology of PAI.

Conclusion: Even though the primary etiology of PAI is autoimmune, in some patients additional testing should be performed in order to exclude genetic causes. Early diagnosis of these conditions may reduce morbidity and improve quality of life in these patients.