Özet:

Sweyers syndrome or pure gonadal dysgenesis is characterised by primary amenorrhea , presence of female phenotype, female external genitalia and female internal genitalia with hypoplastic uterus and streak gonads. A 16 year old girl presented with secondary amenorrhoea, she attained menarche at 11 years and was followed by 4 months of regular cycles thereafter developed two years of amenorrhea. On examination she is phenotypically female with no secondary sexual characteristics, external genitalia is female. Laboratory investigations showed a high level of serum follicle stimulating hormone, Luteinising hormone which were consistent with hyper gonadotropic hypogonadism, pelvic ultrasound showed a hypo plastic uterus and hypo plastic ovaries, chromosomal analysis revealed XY Karyotype. Further she underwent alaparoscopic prophylactic gonadectomy and the histopathology confirmed hypo plastic ovaries. In conclusion we emphasise that Sweyers syndrome can present with secondary amenorrhoea with a functioning uterus with lining endometrium. The importance of timely diagnosis and gonadectomy forseeing a gonadoblastoma cannot be over emphasised.

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