[Diagnostic value of particular symptoms in monosomy X. Evaluated on the basis of experiences with 34 own cases (author's transl)].
Ten cases of monosomy X and caryotype 45,X, and 24 cases of the disorder with various forms of mosaicism are reported. The diagnostic significance of particular stigmata is underlined, and the possibility stressed to demonstrate a hidden pterygium colli by declining the patient's head laterally. Moreover, several peculiarities of individual cases are shown: In three girls with mosaicism, spontaneous puberty was observed, however, in two of them, it was followed by precocious menopause at the age of 14 and 18 years, respectively. The necessity of caryotyping in growth-retarded girls with secondary amenorrhoea or with a ren arcuatus or unilateral solitary kidney is emphasized. High values of urinary gonadotropins in girls without signs of puberty or with precocious menopause, indicate the need for substitution. This therapy leads to the appearence of secondary sex phenomena and menstruation, and at the same time prevents osteoporotic changes.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000568:Amenorrhea / Q000209:etiology; D002648:Child; D004392:Dwarfism / Q000209:etiology; D005260:Female; D006062:Gonadotropins / Q000652:urine; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008593:Menopause; D009030:Mosaicism; D011627:Puberty; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D012730:Sex Chromosomes; D014960:X Chromosome
D006062:Gonadotropins
Diagnostischer Aussagewert von Untersuchungsbefunden bei der Monosomie X. Ermittelt an 34 eigenen Fällen.