Биология ва тиббиёт муаммолари 2025, №2.1 (160)

Тема статьи

PRIMARY ADRENAL INSUFFICIENCY IN A CHILD: A CLINICAL CASE, DIFFERENTIAL DIAGNOSIS, AND THE ROLE OF GENETIC TESTING (130-132)

Авторы

Khalimova Zamira Yusufovna, Alimuhamedova Gulkuh Aybekovna, Mekhmanova Surayyo Otabekovna

Учреждение

Republican Specialized Scientific-and-Practical Medical Centre of Endocrinology named after academician Yo.Kh.Turakulov, Republic of Uzbekistan, Tashkent

Аннотация

Primary adrenal insufficiency (PAI) is a rare but serious endocrine disorder requiring timely diagnosis and treatment. This article presents a clinical case of PAI in a 4-year-old girl, manifested by weakness, weight loss, skin hyperpigmentation, arterial hypotension, and chronic mucosal candidiasis. A comprehensive examination revealed de-creased cortisol levels, elevated adrenocorticotropic hormone (ACTH), as well as concomitant hypoparathyroidism and candidiasis. Based on the clinical presentation, autoimmune polyendocrine syndrome type 1 (APS-1) was suspected. However, molecular genetic testing did not detect mutations in the AIRE gene, making this case atypical. Possible alternative genetic and autoimmune mechanisms of disease development are discussed, along with the need for further expanded molecular analysis. This clinical case highlights the importance of a comprehensive diagnostic approach, including laboratory, instrumental, and genetic methods, for the accurate determination of PAI etiology and optimization of patient management strategies.

Ключевые слова

primary adrenal insufficiency; Addison’s disease; autoimmune polyendocrine syndrome type 1; AIRE.

Литературы

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