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  • Title: Clinical and Radiological Findings in Mayer-Rokitansky-Küster-Hauser Syndrome Type 2: Case report.
    Author: Odhaib SA, Mohammed MJ, Al-Ali AJH, Mansour AA.
    Journal: Sultan Qaboos Univ Med J; 2021 Nov; 21(4):635-638. PubMed ID: 34888086.
    Abstract:
    Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or Müllerian agenesis represents uterovaginal aplasia or hypoplasia of unknown aetiology in young women with usual 46,XX karyotype and normal secondary sexual characteristics. We report a 15-year-old female patient who presented to a specialised diabetes endocrine and metabolism centre in Basrah, Iraq, in 2019 with primary amenorrhoea and normal pubertal secondary sexual characteristics, hormonal workup and clinical examination. Abdominopelvic magnetic resonance imaging (MRI) revealed cervical and uterine agenesis with the absence of the proximal thirds of the vagina. Both kidneys were fused in the right iliac fossa with oval lobulated appearance and crossed fused ectopia. The ovaries were normal and located bilaterally. The diagnosis of MRKHS type 2 was confirmed based on clinical, biochemical and radiological findings. The correct clinical and radiological diagnosis of MRKHS by MRI is crucial for long-term management.
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