Is Tangier disease a rare cause of premature ovarian insufficiency?: A case report

Babayeva A., CERİT E. T., KAYHAN G., Inan A., AKTÜRK M. Y.

Journal of Clinical Lipidology, cilt.19, sa.4, ss.1158-1163, 2025 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 4
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1016/j.jacl.2025.03.011
  • Dergi Adı: Journal of Clinical Lipidology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, Food Science & Technology Abstracts, MEDLINE
  • Sayfa Sayıları: ss.1158-1163
  • Anahtar Kelimeler: ABCA1 mutation, Hypolipidemia, Infertility, Premature ovarian insufficiency, Tangier disease
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Tangier disease (TD) is a rare inherited disorder of lipoprotein metabolism, characterized by the accumulation of cholesterol esters in various tissues, resulting from a marked deficiency or absence of high-density lipoproteins (HDL). There is limited information in the literature regarding the impact of TD on reproduction. We present the case of a 34-year-old female patient who was diagnosed with TD 9 years ago with extremely low concentrations of HDL cholesterol (0.7 mg/dL), low-density lipoprotein cholesterol (5 mg/dL) and apolipoprotein A1 (0.02 mg/dL). Genetic analysis revealed a homozygous c.4218delC (p.Asn1406Lysfs*95) pathogenic variant in the ABCA1 gene causing TD. She presented with a mild clinical course that included gastrointestinal involvement and mild thrombocytopenia. Despite being clinically stable for a long time, the patient, who desired to become pregnant, was diagnosed with premature ovarian insufficiency according to the hormone profile (follicle stimulating hormone: 58.7 mIU/mL, luteinizing hormone: 37.1 mIU/mL, estradiol: 34.8 pg/mL, anti-Mullerian hormone: 0.08 ng/mL) after experiencing amennorrhea during follow-up.