Presentation
Primary amenorrhea.
Patient Data
Laboratory results revealed:
FSH = 61.86 IU/L (normal range: 0.3 to 10.0 IU/L) - elevated
LH = 23.8 IU/mL (normal range <15 IU/mL) - elevated
E2 = 5 (normal range 30 to 400 pg/mL) - reduced
Normal TSH and testosterone levels.
Karyotyping showed trisomy of the X chromosome (47, XXX), consistent with triple X syndrome.
Case Discussion
The patient was first suspected to have Turner syndrome, as an ultrasound (not uploaded) showed streaked ovaries and a hypoplastic uterus. Interestingly, the patient is tall, unlike the known feature of short stature in Turner syndrome. Karyotyping was requested that showed trisomy of the X chromosome (47, XXX), consistent with triple X syndrome.
Common features of triple X syndrome include tall stature, learning disability, hypotonia, subfertility, and minor neurocognitive and behavioral difficulties 1.
Laboratory findings usually show elevated LH and FSH and reduced estradiol (E2) levels due to reduced gonadal function 2.
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