Abstract
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.
Highlights
Al Ali and colleague conduct a retrospective, hospital-based study, they found that Autoimmune polyendocrine syndrome (APS-1) is not uncommon in Saudi children [6]
Autoimmune polyglandular syndrome type 1 (APS-1) appears in children aged 3 - 5 years, with female to male ratio range between 0.8:1 and 2.4:1 indicate that is predominant among females [3]
Guo and colleague mention in their study that the median age of early disease onset was 3.5 years, and there is a tendency towards female preponderance, especially for some of the APS-1 manifestations such as autoimmune hepatitis, with a female to male ratio of 5:1 and hypergonadotropic hypogonadism of 7:1 [8]
Summary
This disorder results from defects in the autoimmune regulator (AIRE) gene. Patients can have other autoimmune disorders, such as alopecia, keratitis, gastritis, pernicious anemia, type 1 diabetes mellitus, autoimmune hypothyroidism, primary hypogonadism [1] [4], and autoimmune premature ovarian failure in the female which affects their fertility [2]. Management of this disorder needs collaboration among different specialties [1]. We report a 9-year-old girl who presented with universal alopecia and precocious puberty and on further evaluation was found to have APS type 1
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