Ovarian failure in a young woman with galactosaemia.

نویسندگان

R. J. Morrow

A. B. Atkinson

D. J. Carson

N. A. Carson

J. M. Sloan

A. I. Traub

چکیده

Case History. The patient presented at age four weeks with abdominal distension secondary to ascites and hepatosplenomegaly. She was not jaundiced. Reducing sugars were detected in her urine and the diagnosis of galactosaemia was confirmed by finding low levels in the erythrocytes of galactose -1 phosphate uridyl transferase (0.04 units/g Hb, normal range 14-25 units/g Hb) and an intermediate value in her parents (7.76 units/g Hb and 5.14 units/g Hb in mother and father respectively). A lactose-free diet was started at age six weeks. At age 17 she was referred to the gynaecological endocrine clinic complaining of primary amenorrhoea. On examination she was 160 cm tall, weighed 50 kg, had stage 1 breast development,1 stage 2 pubic hair development1 and infantile external genitalia. Serum gonadotrophins were high (LH 50U/1, FSH 85U/1) and serum oestradiol was below the detection limit for the assay (60 pmol/l). This pattern of hypergonadotropic hypogonadism was demonstrated on three occasions indicating ovarian failure as the cause of her hypogonadism. At

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