AI Article Synopsis

  • A thorough diagnostic strategy is essential for addressing primary amenorrhea and short stature in patients, as it can uncover underlying issues.
  • Karyotyping and imaging, such as pelvic ultrasounds, are vital tools that can identify chromosomal abnormalities and anatomical anomalies.
  • In the case of a 16-year-old girl with these conditions, tests showed a 46, XY chromosomal makeup and specific uterine structural issues, but after nearly a year of treatment, she achieved her first menstrual period and other signs of puberty.

Article Abstract

Key Clinical Message: A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasizing their value in this context.

Abstract: A 16-year-old girl with absent menstruation and short stature. Further examination revealed constitutional stunting and primary amenorrhea. Karyotyping revealed a 46, XY chromosomal abnormality, whereas pelvic ultrasonography showed uterine hypoplasia and a unicornuate uterus with a rudimentary horn. After 11 months of therapy, she experienced menarche and improved secondary sexual characteristics.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11327294PMC
http://dx.doi.org/10.1002/ccr3.9318DOI Listing

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