Allgrove Syndrome Associated with Somatotropic Axis Impairment: A Case Report

Background: Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by the triad of alacrima, achalasia, and adrenal insufficiency. Its clinical presentation is often variable and progressive, which may delay diagnosis. In addition to the classical triad, neurological and endocrine manifestations have also been described. Case presentation: We report the case of an 18-year-6-month-old male patient, born to first-degree consanguineous parents, referred for evaluation of severe short stature in the setting of primary adrenal insufficiency. His medical history included severe dry eye consistent with alacrima, achalasia confirmed by upper gastrointestinal endoscopy, recurrent school failure, micropenis previously treated with testosterone injections, and fungal esophagitis. On examination, he had marked short stature, low body weight, cutaneous hyperpigmentation suggestive of melanoderma, and advanced pubertal development. Hormonal investigations revealed low morning cortisol with mildly elevated ACTH, supporting the diagnosis of primary adrenal insufficiency. Growth evaluation showed delayed bone age, low IGF-1 levels, and abnormal growth hormone stimulation tests, with an inadequate response to glucagon–propranolol and a partial response to L-DOPA, suggesting impairment of the somatotropic axis. Pituitary MRI demonstrated a normal-sized anterior pituitary gland and an incidental small pineal cyst, with no other abnormalities. The association of alacrima, achalasia, and primary adrenal insufficiency strongly supported the diagnosis of Allgrove syndrome, accompanied in this case by somatotropic axis dysfunction. Hydrocortisone replacement, education on emergency steroid use, and vitamin D supplementation were initiated, and recombinant growth hormone therapy with Genotropin was started. Conclusion: This case underlines the importance of recognizing the association of alacrima, achalasia, and adrenal insufficiency in adolescents presenting with growth failure. It also suggests that somatotropic axis dysfunction may contribute to short stature in some patients with Allgrove syndrome, supporting a more comprehensive endocrine assessment in affected individuals.