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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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Autores principales: Eid, Mahfoud, Chreitah, Ahmad, Aljanati, Omar, Mohammed, Aria, Melhem, Ibrahim, Alkilany, Zeina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
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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
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author Eid, Mahfoud
Chreitah, Ahmad
Aljanati, Omar
Mohammed, Aria
Melhem, Ibrahim
Alkilany, Zeina
author_facet Eid, Mahfoud
Chreitah, Ahmad
Aljanati, Omar
Mohammed, Aria
Melhem, Ibrahim
Alkilany, Zeina
author_sort Eid, Mahfoud
collection PubMed
description 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.
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spelling pubmed-94866062022-09-21 A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report Eid, Mahfoud Chreitah, Ahmad Aljanati, Omar Mohammed, Aria Melhem, Ibrahim Alkilany, Zeina Ann Med Surg (Lond) 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 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. Elsevier 2022-08-18 /pmc/articles/PMC9486606/ /pubmed/36147172 http://dx.doi.org/10.1016/j.amsu.2022.104352 Text en © 2022 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Eid, Mahfoud
Chreitah, Ahmad
Aljanati, Omar
Mohammed, Aria
Melhem, Ibrahim
Alkilany, Zeina
A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
title A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
title_full A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
title_fullStr A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
title_full_unstemmed A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
title_short A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
title_sort rare case of allgrove syndrome associated with growth hormone deficiency in an 8-year-old child: a case report
topic Case Report
url 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
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