Mohammad Noor, Shahid Abdullah, Sultan Mahmood.
Gomal J Med Sci Jan ;5(1):33-7.
20 years old lady presented with primary infertility. History also revealed primary amenorrhea. Findings on her physical examination included short stature, cubitus valgus, slightly webbed neck, poorly developed secondary sexual characters, broad chest with widely spaced nipples, absence of pubic and axillary hair, short metacarpals and metatarsals. Except for the above, her systemic examination was unremarkable. A gynecological examination failed to reveal any abnormality. Ultrasound abdomen revealed streak gonads with small atrophic uterus. Plasma FSH and LH were high with low estrogen levels i.e. hypergonadotrophic hypogonadsim. Karyotyping confirmed the diagnosis of Turner’s syndrome with mosaicism: 45 X/46 Xi).
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