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14yo girl with no breast development, short stature and high FSH. dx? associated anomalies (3)? tx?

User GolfBravo
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Final answer:

A 14-year-old girl with the described symptoms may have Turner syndrome, a disorder where one of the XX chromosomes is missing or incomplete, leading to several anomalies including heart defects and kidney issues. Treatment often involves hormone therapies and management of associated health conditions.

Step-by-step explanation:

A 14-year-old girl with no breast development, short stature, and high Follicle Stimulating Hormone (FSH) levels may be diagnosed with Turner syndrome, which is a chromosomal disorder that affects only females. This condition occurs when one of the XX chromosomes is missing or partially missing.

Associated anomalies with Turner syndrome include:

  • Cardiovascular defects, such as bicuspid aortic valve or coarctation of the aorta
  • Lymphedema
  • Horseshoe kidney or other renal malformations

Treatment for Turner syndrome generally focuses on the specific symptoms that each individual experiences. This can include growth hormone therapy to increase stature, estrogen replacement to induce puberty, and regular monitoring and medical management for potential cardiac or renal issues.

User Kevinmm
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