Gheshlagh Ramin Alizadeh, Topsakal Senay
Faculty of Medicine, Pamukkale University, Denizli, Türkiye.
Faculty of Medicine, Department of Endocrinology and Metabolism, Pamukkale University, Denizli, Türkiye.
Case Rep Med. 2025 Apr 29;2025:5825601. doi: 10.1155/carm/5825601. eCollection 2025.
Hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN) syndrome is a distinct and uncommon form of polycystic ovarian syndrome. It manifests through hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN), along with symptoms like acne, hirsutism, irregular menstruation, and other androgen-related issues. A 17-year-old female with a history of childhood obesity and irregular menstrual cycles presented with weight gain and amenorrhea. Previously assessed for hirsutism with a Ferriman-Gallwey score of 14, she was found to have hepatic steatosis, ovarian cysts, and IR. She was advised to lose weight and prescribed metformin but did not adhere to the treatment. Four years later, she returned with further weight gain and hirsutism and was diagnosed with androgenetic alopecia. The presence of AN, HA, and severe IR led to a diagnosis of HAIR-AN syndrome, and she was placed under observation. We used next-generation sequencing (NGS) to screen 70 genes for mutation and identify relevant genetic variations. The investigation targeted all exons and exon-intron junctions in genes, including ACOX1, GM2A, ACSF3, and others. Bioinformatics tools and in silico algorithms were used to assess the impact of the variants. No significant mutations associated with the patient's symptoms were identified. HAIR-AN syndrome can present in various forms and should be considered in cases of unexplained AN and menstrual irregularities. Early detection, diagnosis, and treatment of HAIR-AN syndrome can alleviate symptoms and improve patients' quality of life. This case presentation aims to evaluate the findings of a HAIR-AN syndrome that became very severe due to treatment noncompliance.
高雄激素血症、胰岛素抵抗和黑棘皮症（HAIR-AN）综合征是多囊卵巢综合征的一种独特且不常见的形式。它通过高雄激素血症（HA）、胰岛素抵抗（IR）和黑棘皮症（AN）表现出来，同时伴有痤疮、多毛、月经不规律以及其他与雄激素相关的问题。一名17岁女性，有儿童期肥胖和月经周期不规律的病史，出现体重增加和闭经。之前因多毛症接受评估，费里曼-高尔韦评分14分，发现她有肝脂肪变性、卵巢囊肿和胰岛素抵抗。建议她减肥并开了二甲双胍，但她未坚持治疗。四年后，她因体重进一步增加和多毛症复诊，被诊断为雄激素性脱发。黑棘皮症、高雄激素血症和严重胰岛素抵抗的存在导致诊断为HAIR-AN综合征，她被置于观察之下。我们使用下一代测序（NGS）筛选70个基因以寻找突变并识别相关的基因变异。研究针对包括ACOX1、GM2A、ACSF3等基因的所有外显子和外显子-内含子连接区。使用生物信息学工具和计算机算法评估变异的影响。未发现与患者症状相关的显著突变。HAIR-AN综合征可呈现多种形式，在不明原因的黑棘皮症和月经不规律的病例中应予以考虑。HAIR-AN综合征的早期检测、诊断和治疗可缓解症状并改善患者生活质量。本病例报告旨在评估因治疗依从性差而变得非常严重的HAIR-AN综合征的研究结果。
