A 16-year-old girl presents because she has not begun to menstruate. Also, breast development and pubic hair have not developed. She is 59 in. (150 cm) tall and weighs 115 lbs (52 kg). On examination, her vital signs are normal. She has skin folds on the lateral sides of her neck. She has evidence of cubitus valgus. Breasts are Tanner stage 1 and the nipples appear to be spaced wider than average. Pubic hair is Tanner stage 1. The external genitalia are normal. The vagina is of normal depth and a small cervix is seen on speculum examination. The uterus is present but small. There are no adnexal masses.Which of the following is the most likely diagnosis?
Answer(s): C
The delayed puberty, short stature, web neck, increased carrying angle (cubitus valgus), widely spaced nipples are classic signs of Turner syndrome, gonadal dysgenesis. Women with anorexia nervosa are of normal height and have a history of weight loss below 15% of ideal body weight. Androgen insensitivity syndrome is not a consideration because these women lack a uterus and cervix, and have a short vagina.The Müllerian ducts develop to form the Fallopian tubes, uterus, cervix, and upper vagina. The presence of a cervix and uterus excludes this diagnosis. Strictly, gonadal dysgenesis is a type of premature ovarian failure, developing before the age of puberty to result in primary amenorrhea. However, premature ovarian failure is most often a postpubertal event and these women usually menstruate for a variable period of time.
A 16-year-old girl presents because she has not begun to menstruate. Also, breast development and pubic hair have not developed. She is 59 in. (150 cm) tall and weighs 115 lbs (52 kg). On examination, her vital signs are normal. She has skin folds on the lateral sides of her neck. She has evidence of cubitus valgus. Breasts are Tanner stage 1 and the nipples appear to be spaced wider than average. Pubic hair is Tanner stage 1. The external genitalia are normal. The vagina is of normal depth and a small cervix is seen on speculum examination. The uterus is present but small. There are no adnexal masses.What is the most likely karyotype of this 16 year old?
The short stature and other features of Turner syndrome are strong presumptive evidence of a 45,X karyotype. A46,XX and a 46,XY karyotype may be found in women with gonadal dysgenesis. Their clinical presentation is absence of pubertal events, but lack of the physical features of Turner syndrome. Most helpful in excluding either of these karyotypes is the short stature: those with 46,XX or 46,XY gonadal dysgenesis are of normal height. There is nothing in the clinical presentation to suggest 47,XX trisomy 21.The phenotype of those with a 47,XXY karyotype is male, Klinefelter syndrome.
A 16-year-old girl presents because she has not begun to menstruate. Also, breast development and pubic hair have not developed. She is 59 in. (150 cm) tall and weighs 115 lbs (52 kg). On examination, her vital signs are normal. She has skin folds on the lateral sides of her neck. She has evidence of cubitus valgus. Breasts are Tanner stage 1 and the nipples appear to be spaced wider than average. Pubic hair is Tanner stage 1. The external genitalia are normal. The vagina is of normal depth and a small cervix is seen on speculum examination. The uterus is present but small. There are no adnexal masses. Which of the following is the treatment of choice for this patient?
Answer(s): B
The streak gonads of women with gonadal dysgenesis will never secrete sex hormones. Combined estrogen plus progestin is the correct choice to stimulate pubertal development. Estrogen alone,in long term, increases the risk that these women will develop endometrial adenocarcinoma. Clomiphene and Follistim are fertility-promoting agents used to stimulate ovulation in anovulatory women who have ovarian follicles. Women with Turner syndrome have few or no follicles and oocytes. Gonadectomy is necessary only when a Y chromosome is present in a woman with gonadal dysgenesis.
Select the ONE best lettered option that is the most likely diagnosis of vaginal bleeding in pregnancy. Each lettered option may be selected once, more than once, or not at all.A 28-year-old pregnant woman at 32 weeks' gestation suddenly begins profuse, painless vaginal bleeding. Her prenatal care began at 7 weeks and had been uncomplicated. She last had sexual intercourse 7 days ago. She denies abdominal trauma. Her uterus is soft and nontender, and the fetal heart rate is 132 BPM.
Answer(s): D
Painless vaginal bleeding in the third trimester is most often due to a placenta previa. The diagnosis is easily confirmed by abdominal ultrasound. No vaginal/cervical examination or vaginal ultrasound should be done because these may damage the placenta and cause further bleeding and fetal compromise. Delivery is by cesarean section.
Select the ONE best lettered option that is the most likely diagnosis of vaginal bleeding in pregnancy. Each lettered option may be selected once, more than once, or not at all.A 23-year-old pregnant woman at 16 weeks' gestation begins to have light vaginal bleeding several hours after sexual intercourse. She has no abdominal discomfort. Her prenatal course has been uneventful and fetal heart tones were heard at 12 weeks. Her uterus is midway between her symphysis pubis and umbilicus, and is soft and nontender. Fetal heart tones are now 148 BPM. Her cervix is undilated.
Light vaginal bleeding following sexual intercourse is likely of cervical origin because of the increased blood flow to the pelvic organs in pregnancy and eversion of the endocervix that occurs as a result of the increased estrogen production. The absence of abdominal pain and tenderness, the appropriate size of the uterus and the spotting rather than overt bleeding tend to exclude threatened abortion as the cause of this woman's bleeding.
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