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September 23, 2025European Journal of EndocrinologyOpen Access

P44 - A strange case of primary amenorrhea

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Authors

ASAlberico SorgatoEPElena PaginCSChiara Sabbadin

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Overview

Case report identifies primary amenorrhea and microdeletion in a 16-year-old patient, indicating MRKH syndrome.

Key Points

  • Primary amenorrhea was diagnosed in a 16-year-old with a complex medical history, presenting a challenging case.
  • Pelvic ultrasound revealed microfollicular ovaries and reduced uterine volume, supporting the diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome.
  • Genetic testing identified a microdeletion in the 16p11.2 region, emphasizing the genetic aspect of this condition.
  • Correct classification of primary amenorrhea is essential to detect syndromic conditions for timely intervention.

Cite This Study

Sorgato et al. (2025) studied this question.

synapsesocial.com/papers/68d4724f31b076d99fa6abddhttps://doi.org/10.1093/ejendo/lvaf168.107
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A rare case of Mayer–Rokitansky–Küster–Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report2026
  2. 2Mayer-Rokitansky-Küster-Hauser Syndrome as a Cause of Primary Amenorrhea: A Case Report2024
  3. 3Six-year diagnostic delay in a married woman with Mayer–Rokitansky–Küster–Hauser syndrome: a case report2026
  4. 4An Atypical Presentation of Turner Syndrome in an Adolescent Female2026
  5. 5A RARE CASE OF OVARIAN AGENESIS AND HYPOPLASTIC UTERUS IN A PREPUBERTALGIRL WITH NORMAL 46, XX KARYOTYPE2024