Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2002) 4 P7

SFE2002 Poster Presentations Clinical case reports (21 abstracts)

Osteoporosis as the presentation of chromosomally-related endocrinopathy

KC Lewandowski 1 , C Chu 2 , J Barth 3 & PE Belchetz 1

1Department of Endocrinology Leeds Teaching Hospitals NHS Trust; 2Department of Clinical Genetics Leeds Teaching Hospitals NHS Trust; 3Department of Chemical Pathology Leeds Teaching Hospitals NHS Trust.

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.

Volume 4

193rd Meeting of the Society for Endocrinology and Society for Endocrinology joint Endocrinology and Diabetes Day

Society for Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.