PROLONGED ASTHENIA AND LATE-ONSET ADRENAL INSUFFICIENCY IN CHILDHOOD: NOT ALWAYS AUTOINMUNE
O. PEREZ-RODRIGUEZ *
Departament of Pediatric Endocrinology, San Carlos University Hospital, Madrid, Spain.
MARTINEZ-DEL RIO
Departament of Pediatric Endocrinology, San Carlos University Hospital, Madrid, Spain.
R. OANCEA-IONESCU
Clinical Genetics Unit, San Carlos University Hospital, Madrid, Spain.
F. J. LOPEZ-SEOANE
Departament of Pediatric Endocrinology, San Carlos University Hospital, Madrid, Spain.
D. LOPEZ-DE LARA
Departament of Pediatric Endocrinology, San Carlos University Hospital, Madrid, Spain.
A. BODAS-PINEDO
Departament of Pediatric Gastroenterology, San Carlos University Hospital, Madrid, Spain.
*Author to whom correspondence should be addressed.
Abstract
Triple A syndrome is a rare genetic disorder characterized by cardinal features of adrenal failure, achalasia, and alacrimia. It was first reported by Allgrove in 1978 and less than 200 cases have been reported worldwide. This case presentation is a seven year old girl born full term with severe congenital bilateral sensorineural hearing loss confirmed at 6 months, who was referred for evaluation of asthenia and hyperpigmentation and was first diagnosed as Addison's disease and treated as such. One month later, in the context of symptomatic hypokalemia, it was observed that primary adrenal insufficiency was selective for glucocorticoids and did not associate saline loss so Allgrove syndrome came to mind. Being specifically asked about it, the family confirmed the absence of tears when crying. The diagnosis was confirmed by massive sequencing (homozygous pathogenic variant c.1087 + 1G> A in the AAAS gene). In conclusion a high degree of suspicion for clinical clues of syndromic manifestation is needed, as early diagnosis can reduce the morbidity and mortality.
Keywords: Triple A syndrome, bilateral sensorineural hearing, diagnosis, morbidity