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A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report

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 othe...

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Detalles Bibliográficos
Autores principales: Eid, Mahfoud, Chreitah, Ahmad, Aljanati, Omar, Mohammed, Aria, Melhem, Ibrahim, Alkilany, Zeina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9486606/
https://www.ncbi.nlm.nih.gov/pubmed/36147172
http://dx.doi.org/10.1016/j.amsu.2022.104352
Descripción
Sumario: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.