A girl present with primary amenorrhea, sho stature ,widely spaced nipples. Karyotype of the girl would be :
Correct Answer: 45 xo
Description: Turner's syndrome In this syndrome, either the sho arm of X chromosome is deleted or the nucleus possesses only 45 chromosomes, i.e. XO. The absence of Y chromosome resembles the female, but these patients are, like males, chromatin negative, i.e. their nuclei contain no nuclear satellite body and no drumsticks in the neutrophils. It has also been called ovarian agenesis or gonadal dysgenesis because at laparotomy the gonad is found to consist of undifferentiated stroma with absence of sex cells, a mere strip of fibrous tissue attached to the back of the broad ligament like a pale strip, the so-called streak gonad. The follicles grow up to 20th week of fetal life but become atretic due to absence of one X sex chromosome. In some, germ cells fail to migrate to the genital ridge from the yolk sac. These ovaries do not contain Graafian follicles, so oestrogen is not produced. The patients are clinically of sho stature though not actual dwarfs, the trunk is muscular, the neck is sho and webbed, cubitus valgus is notable. The breasts are not developed and pubic, and axillary hair is scanty or absent. Exaggerated epicanthic folds may be present, one of the obvious defects first noticeable on examining the patient. The vagina and uterus, if present, are underdeveloped. Other gross congenital abnormalities are present such as coarctation of the aoa. Deformities of the digits are also seen. Other stigma of Turner's syndromes includes shield chest, high palate, low-set ears, lymphoedema of the extremities at bih and deafness. The stigma is due to chromosomal deficiency in the sho arm of X chromosome and is not always present (seen in 20%-30%), and the percentage of stigma depends on the percentage of abnormal X chromosome. The classical picture of Turner's syndrome as described should have a chromosomal pattern of XO. However, there are variants in which mosaicism of XO/XX or even XO/XY produce less clear-cut syndromes, e.g. a normal appearing female apa from gonadal dysgenesis. The young girl with Turner's syndrome presents with primary amenorrhoea. Serum follicle-stimulating hormone (FSH) is above 40 mIU/mL and E2 is below 25 pg/mL. Oestrogen therapy with intermittent progesterone is advised to prevent osteoporosis. Aificial vagina may be needed at a later date for sexual function. Administration of growth hormone 0.05 mg daily for 5 years near pubey will improve the height. A pregnancy can occur with the donor egg in IVF programme if the uterus is present. If few follicles persist after pubey, menstruation and pregnancy is possible (15%). Incidence of Turner's syndrome is 1:2000 to 1:5000 live born girls. About 70%-90% of pregnancies with XO chromosome abo in early weeks of gestation. Shaw's Textbook of Gynaecology 16th editon page 145,146
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Gynaecology & Obstetrics
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