Autoimmune Polyglandular Syndrome Type 2 in the Form of Carpenter Syndrome in a 16.5-Year-old Girl

Hanna Nowak, Dominika Szwacka,Marek Niedziela,Witold Stankiewicz,Monika Obara-Moszyńska

Pediatria Polska（2024）

Cited 0|Views13

Abstract

Autoimmune polyglandular syndrome type 2 (APS-2) is the coexistence of Addison disease and at least one of the disorders like autoimmune thyroid diseases and/or type 1 diabetes mellitus. We discuss the case of 16.5-year-old girl who had been diagnosed with APS-2 at the early age of 13.5 years. The girl presented recurrent abdominal pain and emesis for about 3 years, occurring about every 6 months. Moreover, in physical examination, characteristic skin hyperpigmentation furrows in the hands, nipples, and mucosa in the oral cavity were noticed. Due to the clinical picture and laboratory data, autoimmune thyroiditis and primary adrenal insufficiency were diagnosed. After initiating substitution treatment, the girl developed full-blown diabetes mellitus, probably masked earlier after primary adrenal insufficiency. It should be kept in mind that during the diagnosis of autoimmune disease, other autoimmune disorders may coexist; thus, such patients should be under specialists’ close supervision.

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Key words

carpenter syndrome,autoimmune polyglandular syndrome,girl.

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【要点】：本文报道了一名16.5岁女孩患有自身免疫多腺体综合征2型（APS-2），并以Carpenter综合征形式表现，创新点在于详细描述了APS-2在青少年中的不典型临床表现和诊断过程。

【方法】：通过病例报告的方式，详细记录了患者的病史、临床表现、体检发现、实验室检查结果以及治疗经过。

【实验】：无具体实验方法描述，主要依据临床观察和实验室检测。数据集为单个病例的临床资料。结果显示，通过替代治疗后，患者出现了完全性糖尿病，这可能是之前被原发性肾上腺功能不足所掩盖。

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