Premature Ovarian Insufficiency in a Young Woman with Hypothyroidism, Chromosome 9 Inversion, and Cavernous Angioma: A Case Report of an Unusual Presentation and Literature Review
Year: 2025
Type: article
Study design: Case Report
Abstract: Premature ovarian insufficiency (POI) in a young unmarried woman was detected in association with hypothyroidism, chromosome 9 (Inv 9, p12q13) inversion, and cavernous angioma. A 27-year-old unmarried female presented with complaints of infrequent cycles only after undergoing withdrawal treatment for menstruation for the past 11 years. She was diagnosed with hypothyroidism and was subsequently prescribed thyroid replacement therapy. On examination, bilateral galactorrhoea was identified. Oestradiol and anti-Mullerian hormone values were low, whereas her follicle-stimulating hormone value was elevated. Her brain magnetic resonance imaging revealed a solitary cavernous angioma, and her karyotype indicated 46 XX and Inv(9) p12q13. POI in a young woman is a devastating condition affecting both physical and emotional well-being. Chromosomal aberrations should be ruled out in such cases. Life-long oestrogen replacement therapy and alternate options for infertility issues such as ovum donation or adoption can be considered.
Authors: Vibha Rani Pipal, Shikha Seth, Aradhana Singh, Preeti Bala, Preeti Priyadarshani, Dharmendra Kumar Pipal
Institution: All India Institute of Medical Sciences Gorakhpur
Language: English
Subfield: Reproductive Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4409205353