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Self-Assessment Questions

Pediatric Endocrinology

Answer 4
  1. Turner’s syndrome. Amenorrhea in a patient with short stature and the presence of pubic hair but not breast development should raise suspicion of Turner’s syndrome, a genetic abnormality of females in which all or part of one X chromosome is missing. Affected patients have growth problems as well as delayed and incomplete sexual development, and are generally infertile. Characteristic physical findings of Turner’s syndrome, such as widely spaced nipples, makes evaluation with a karyotype determination imperative. Patients with polycystic ovarian disease may have amenorrhea but generally also have hirsutism and acne. Hypothyroidism is less likely given normal mental functioning, and the patient has no symptoms, such as headache, that would suggest a central nervous system tumor.

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