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"The Missing X" - profile of a 25-year old with turner syndrome : a case report / Beatriz Carmela R. Glorioso.

Contributor(s): Language: english Publication details: Fairview, Quezon City: Department of Obstetrics and Gynecology, FEU-NRMF, 2021.Description: 31 pages: illustrations, tables, photos; ( in folder) + with flash drive (soft copy)Content type:
  • text
Media type:
  • unmediated
Carrier type:
  • volume
Subject(s): LOC classification:
  • OB 2021 0007
Summary: Abstract: Turner Syndrome is the most common sex chromosomal abnormality presenting as primary amenorrhea found in phenotypic females. It is a condition in which one X chromosome is intact and the second sex chromosome is absent completely or partially in association with the clinical manifestations. The incidence of Turner Syndrome is about 1 in 2,000 to 3,00 live births, and are found in all of spontaneous abortions of approximately 15%. This is a case of a 25-year old, Nulligravid, who presents with primary amenorrhea, underdeveloped secondary sexual characteristics, with an infantile uterus on transrectal ultrasound and with other comorbidities such as cardiovascular and metabolic complications. Karyotype analysis was done revealing a 45, X karyotype, hence, confirming a diagnosis of Turner Syndrome. The goals of management in patients with Turner Syndrome are specific to the symptoms apparent to each individual and require a multidisciplinary team to manage the case holistically. Early detection and continuous monitoring from the diagnosis until adulthood is important to initiate the appropriate management and address the possible complications that may arise at any point. Counselling as part of psychological management and support is also an important aspect in improving the quality of life in patients with Turner syndrome.
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Item type Current library Call number Status Notes Date due Barcode
Room Use Far Eastern University - Nicanor Reyes Medical Foundation Research OB 2021 0007 (Browse shelf(Opens below)) Available with flash drive (soft copy) R000894
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Includes appendices and bibliographical references.

Abstract: Turner Syndrome is the most common sex chromosomal abnormality presenting as primary amenorrhea found in phenotypic females. It is a condition in which one X chromosome is intact and the second sex chromosome is absent completely or partially in association with the clinical manifestations. The incidence of Turner Syndrome is about 1 in 2,000 to 3,00 live births, and are found in all of spontaneous abortions of approximately 15%. This is a case of a 25-year old, Nulligravid, who presents with primary amenorrhea, underdeveloped secondary sexual characteristics, with an infantile uterus on transrectal ultrasound and with other comorbidities such as cardiovascular and metabolic complications. Karyotype analysis was done revealing a 45, X karyotype, hence, confirming a diagnosis of Turner Syndrome. The goals of management in patients with Turner Syndrome are specific to the symptoms apparent to each individual and require a multidisciplinary team to manage the case holistically. Early detection and continuous monitoring from the diagnosis until adulthood is important to initiate the appropriate management and address the possible complications that may arise at any point. Counselling as part of psychological management and support is also an important aspect in improving the quality of life in patients with Turner syndrome.

Research - Department of Obstetrics & Gynecology

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