摘要
Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation. Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation.
Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation. Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation.
作者
Aida Al Jabri
Aminah Al Essa
Sakinah Al Shaib
Aida Al Jabri;Aminah Al Essa;Sakinah Al Shaib(Department of Pediatrics, King Abdulaziz Hospital, Ministry of the National Guard-Health Affairs, Al-Ahsa, Saudi Arabia;King Abdullah International Medical Research Center, Al-Ahsa, Saudi Arabia;King Saud Bin Abdulaziz University for Health Sciences, Al-Ahsa, Saudi Arabia;Department of Pediatrics, Maternity and Children Hospital, Al-Ahsa, Saudi Arabia)
