ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)
Allgrove syndrome: a case report
Ines Mezghani 1 , Marrakchi Rim 1 , Hadjkacem Faten 2 , Boudaya Mariem 1 , Jammoussi Kamel 1 , Rekik Nabila 2 , Abid Mohamed 2 & Turki Mouna 1
1Hedi-Chaker University Hospital, Biochemistry Departement, sfax, Tunisia; 2Hedi-Chaker University Hospital, Endocrinology Departement, sfax, Tunisia
Introduction: Allgrove syndrome or Triple A (3A) syndrome is a rare autosomal recessive disease characterized by alacrima, esophageal achalasia and adrenocorticotropic hormone-resistant adrenal insufficiency.
Observation: A 3-year-old and 9 months patient, from a consanguineous marriage, consulted for melanoderma, with family history: sisters with an heterozygous mutation of the AAAS gene, two paternal cousins, 5 years and 22 years, followed for autism and profound encephalopathy with epilepsy, respectively. The diagnosis of Allgrove syndrome was based on the association of alacrima confirmed by the Schirmer test, adrenal insufficiency and achalasia following digestive exploration (TOGD and esophageal manometry). The genetic study revealed the IVS14 + 1G>A mutation of the AAAS gene: mutation of intron 14 of the AAAS gene (chromosome 12: 12q13). The child received hydrocortisone and Fludrocortisone. The neurological development was marked by microcephaly at (-3SD), distal wasting with bone deformation (pathological exaggeration of the arch of the foot), facial and bulbar deficiency with a nasal voice. The onset of a growth delay from -0.5 to -2.5 SD, G2 P1 puberty at the age of 14 years 9 months and school failure. The appearance of dysphagia required two esophageal dilations. Macroscopic hematuria appeared at the age of 10 due to calyx microstones.
Conclusions: Allgrove syndrome is a rare, serious and multi-systemic pediatric condition requiring multidisciplinary care and genetic counseling among siblings
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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