Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Gynecol Endocrinol. 2020 Jun;36(6):558-560. doi: 10.1080/09513590.2019.1707794. Epub 2020 Jan 3.
Type A insulin resistance syndrome (TAIRS) is a rare subtype of congenital insulin resistance (IR), which is characterized by specific clinical manifestations without clear diagnostic criteria and is easily misdiagnosed or overlooked. Herein we present a case of TAIRS with acanthosis nigricans (AN), severe IR, polycystic ovaries, hyperandrogenism and its consequence such as menstrual disturbances, acne and hirsutism. A heterozygous mutation, p.Arg1201Gln, in the insulin receptor (INSR) was detected. This mutation in the tyrosine kinase domain has been described before and shown to impair tyrosine kinase activity and is responsible for IR.
A型胰岛素抵抗综合征（TAIRS）是一种罕见的先天性胰岛素抵抗（IR）亚型，其特征为具有特定的临床表现，但缺乏明确的诊断标准，因此容易误诊或漏诊。本文报道了 1 例伴发黑棘皮病的 TAIRS 患者，其临床表现为严重的 IR、多囊卵巢、高雄激素血症及由此导致的月经紊乱、痤疮和多毛。检测到胰岛素受体（INSR）的杂合性点突变 p.Arg1201Gln，该突变位于酪氨酸激酶结构域，已被报道可损害酪氨酸激酶活性，导致 IR。
