Endocrine Abstracts

Many patients with Turner's and Klinefelter's syndromes develop osteoporosis. We present the cases of three patients with osteoporosis and chromosomal abnormalities.

Case 1: A 65 year old women requested evaluation of osteoporosis because of multiple fractures of hip, elbow and vertebrae. She was kyphoscoliotic, having lost 6 cm from her peak height o 1.76 m. Aged 12 she was told that she lacked female reproductive organs and underwent surgery including vaginoplasty. FSH/LH were elevated, testosterone 1.6 nmol/l. Karyotype, 46XY confirmed testicular feminisation.

Case 2: A 55 year old man, treated since 1975 with Cyproproterone Acetate for sexual offences, and lately also with Sulpiride. In 2000 (after a fit) a meningioma was resected. He was kyphotic with severe ostoporosis, having lost 7.5 cm from his peak height of 1.78 m. Clinically hypogonadal with gynaecomastia and tiny testes. FSH/LH and prolactin were raised, testosterone 1.7 nmol/l, TSH 8 mU/l. Karyotype, 47 XXY confirmed Klinefelter's syndrome.

Case 3: A 67 year old woman worried that she had osteoporosis. Her sister already had it and she avoided dairy produce. She had primary amenorrhoea and aged 19 was told that she had a hypoplastic uterus. She was 1.48 m in height. Unopposed oestrogen was started at the age of 58. Ultrasound confirmed minimal tissue at the vaginal vault. She had confirmed osteoporosis. Karyotype revealed 8% of 45X Turner mosaic.

Conclusions: These cases suggest that karyotype assessment should be readily undertaken in patients with osteoporosis and features of abnormal sexual development.