Endocrine Abstracts

Introduction: Allgrove syndrome or triple A syndrome is a rare genetic disorder of autosomal recessive inheritance combining in its complete form: esophageal achalasia, alacrymia and adrenal insufficiency.

Observation: Patient aged 16, 3rd of 4 siblings from a consanguineous marriage, followed for allograve Sd with megaesophagus operated on in 2016, alacrymia with artificial tears and neurological impairment. As part of the follow-up of his pathology, an 8-hour cortisolaemia was performed, showing low cortisolaemia with high ACTH. The patient was started on hydrocortisone 30 mg and received several therapeutic education sessions. Genetic counseling of siblings was requested.

Discussion and conclusion: Allgrove syndrome is a rare disorder (97 published cases) of autosomal recessive inheritance, characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrymia, autonomic dysfunction and neurodegeneration. The gene responsible for the disease, located on chromosome 12, codes for the ALADIN protein (for alacrima-achalasia-adrenal insufficiency neurologic disorder). The exact role of this protein in Triple A syndrome is not yet known. The incidence of the condition is unknown and difficult to determine, due to the clinical variant of the disease and the infant mortality due to attacks of adrenal insufficiency, hence the importance of a careful anamnesis in search of a history of mortality in siblings. Allgrove affects both males and females, regardless of race (rational sex = 1). Achalasia and alacrymia are the first signs of the disease and may appear from birth, whereas adrenal insufficiency attacks may be discovered in adulthood, during the 2nd decade, or may never appear at all, which justifies regular monitoring and the importance of genetic counseling in siblings.