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Case Discussion APS 29.07.1397

Problem list

A 23 Y/0 GIRL

Delayed puberty
hair loss & scant pubic hair & lack of axillary hair
high gonadotropins level
Infantile uterus and ovary
46 xx, inv 9 (11p 13q)

Diabetes
Hearing loss
Hypothyroidism
Low learning skills

Questions

  1. How can we approach to the patient?
  2. Can chromosomal inversion 9 cause morbidity?
  3. What is the differential diadnosis ?
  4. What can we do for the patient ?