Primary Amenorrhea with Autoimmune Thyroiditis in an Adolescent Female: A Suspected Turner’s Syndrome

Abstract

Introduction: Turner syndrome is a chromosomal disorder caused by partial or complete absence of one X chromosome and is commonly associated with short stature, gonadal dysgenesis, and endocrine abnormalities. Primary amenorrhea is a frequent presenting feature in adolescent females. Individuals with Turner syndrome are also at increased risk of developing autoimmune disorders, particularly autoimmune thyroid disease. Early recognition is essential to prevent long-term complications and ensure appropriate management. Case Presentation: A 17-year-old adolescent female presented with cough, fever, decreased appetite, and facial puffiness, along with a history of primary amenorrhea. Clinical evaluation and laboratory investigations revealed anemia, inflammatory markers elevation, gonadal hormone abnormalities, and thyroid dysfunction. Imaging studies demonstrated absence of the uterus, and ultrasonography of the neck was suggestive of Hashimoto’s thyroiditis. Based on the clinical, hormonal, and radiological findings, a diagnosis of suspected Turner syndrome was considered. Karyotyping was advised for definitive confirmation during the next follow-up visit. Discussion: Primary amenorrhea with absent uterus and associated autoimmune thyroiditis strongly suggests Turner syndrome. Autoimmune thyroid disease is the most common autoimmune condition associated with Turner syndrome, attributed to X-chromosome haploinsufficiency and immune dysregulation. Delayed diagnosis, especially in patients lacking classic phenotypic features, is common and may lead to missed opportunities for early hormonal intervention and surveillance of comorbidities. Conclusion: This case emphasizes the need to consider Turner syndrome in adolescent females presenting with primary amenorrhea and autoimmune thyroid disease, even in the absence of classical physical features. Early clinical suspicion, timely cytogenetic evaluation, and a multidisciplinary approach are crucial for optimal management and improved quality of life.