Diagnose eines Ullrich-Turner-Syndroms im Rentengutachten

Le résumé fourni par la source

A 56-year-old woman of short stature (148 cm) was medically examined after applying for a disability pension on account of chronic back-pain. She gave a history of primary amenorrhoea (not examined further), slowly increasing deafness, type IIb diabetes mellitus, hyperlipoproteinaemia, hypothyroidism and osteoporosis. Physical examination showed hypoplasia of both breasts, shield chest and slight webbing of the neck. Ultrasonography of the thyroid revealed late stage of Hashimoto thyroiditis. Vaginal ultrasonography confirmed absence of uterus and adnexae. All these findings were compatible with the diagnosis of Turner's syndrome, which was confirmed by chromosomal examination of 50 analysable metaphases showing chromosomal mosaic 45,X/46,X, i(Xq), as well as two cells with 47 chromosomes, two with isochromosomes for the long arm of the X-chromosome. Treatment consisted of administration of L-thyroxin (75 micrograms/d) and oestrogen. There was no follow-up.

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