A Complex Clinical Situation in Polycystic Ovary Syndrome: Hair-An Syndrome ' Report

Abstract

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.