A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report. (September 2022) - Eid, Mahfoud
Abstract: Introduction and importance: Triple A (Allgrove) syndrome is an autosomal recessive multi-organ disease, caused by a mutated gene on chromosome 12q13 in most cases, characterized by the classic triad of Alacrimia, Achalasia and Adrenal insufficiency; along with neurologic abnormalities and many other manifestations in some cases. While short stature is not a rare manifestation in the context of this syndrome, it remains without identifiable cause. Case presentation: Here we described an 8-year-old female who had feeding difficulties, recurrent vomiting, hyperpigmentation and short stature. She was diagnosed with Allgrove syndrome after confirmation of adrenal insufficiency, Achalasia, and Alacrimia. Despite correcting these disorders, we did not notice an improvement in the patient's height, which promote us to further investigations, which eventually led to the diagnosis of growth hormone deficiency as a cause of short stature. The treatment consisted of Hydrocortisone, artificial tears, pneumatic balloon dilation, Nifedipine and Recombinant growth Hormone with a great improvement of her condition. Conclusion: This case found an unusual association between Allgrove syndrome and growth hormone deficiency, a treatable cause of short stature, which in turn is a frequent manifestation of unknown etiology in this syndrome. Highlights: Allgrove syndrome is a rare multiorgan disorder with a wide range phenotypes. Adrenal insufficiency is is the main cause of morbidity and mortality in patient with Allgrove syndrome. Short stature may be either a variant of normal growth or caused by a disease. Growth hormone deficiency may be isolated or combined with other pituitary hormones deficiency.