A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
- PMID: 36147172
- PMCID: PMC9486606
- DOI: 10.1016/j.amsu.2022.104352
A rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report
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.
Keywords: Achalasia; Adrenal insufficiency; Alacrimia; Growth hormone deficiency; Triple A syndrome.
© 2022 The Authors.
Conflict of interest statement
All of the authors declare that they have no competing interests.
Figures
Similar articles
-
Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley.Endocrinol Metab (Seoul). 2015 Dec;30(4):604-6. doi: 10.3803/EnM.2015.30.4.604. Epub 2015 Sep 10. Endocrinol Metab (Seoul). 2015. PMID: 26354489 Free PMC article.
-
Triple A Syndrome-A Rare Hereditary Cause of Achalasia.ACG Case Rep J. 2025 Apr 25;12(5):e01686. doi: 10.14309/crj.0000000000001686. eCollection 2025 May. ACG Case Rep J. 2025. PMID: 40291601 Free PMC article.
-
Triple A syndrome (Allgrove syndrome) - A journey from clinical symptoms to a syndrome.J Family Med Prim Care. 2020 May 31;9(5):2531-2534. doi: 10.4103/jfmpc.jfmpc_237_20. eCollection 2020 May. J Family Med Prim Care. 2020. PMID: 32754538 Free PMC article.
-
Triple-A syndrome.Adv Exp Med Biol. 2010;685:1-8. doi: 10.1007/978-1-4419-6448-9_1. Adv Exp Med Biol. 2010. PMID: 20687490 Review.
-
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.Hormones (Athens). 2021 Mar;20(1):197-205. doi: 10.1007/s42000-020-00217-7. Epub 2020 Jul 22. Hormones (Athens). 2021. PMID: 32700293 Review.
Cited by
-
Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency.Turk Arch Pediatr. 2025 May 2;60(3):258-267. doi: 10.5152/TurkArchPediatr.2025.24339. Turk Arch Pediatr. 2025. PMID: 40353455 Free PMC article.
-
Very early and severe presentation of Triple A syndrome - case report and review of the literature.Front Endocrinol (Lausanne). 2024 Sep 24;15:1431383. doi: 10.3389/fendo.2024.1431383. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39387047 Free PMC article. Review.
References
-
- Huebner A., Yoon S.J., Ozkinay F., et al. Triple A syndrome–clinical aspects and molecular genetics. Endocr. Res. 2000;26(4):751–759. - PubMed
-
- Huebner A., Elias L.L., Clark A.J. ACTH resistance syndromes. J. Pediatr. Endocrinol. Metab. 1999;12(Suppl 1):277–293. - PubMed
-
- Weber A., Wienker T.F., Jung M., Easton D., Dean H.J., Heinrichs C., et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum. Mol. Genet. 1996;5:2061–2066. - PubMed
Publication types
LinkOut - more resources
Full Text Sources