A 15-year-old girl is brought in by her parents to her pediatrician with concerns that their daughter still has not had her first menstrual cycle. The parents report that the patient has had no developmental issues in the past. She was born full term by vaginal delivery and has met all other milestones growing up. Based on chart review, the patient demonstrated breast bud development at 10 years of age. The patient is not self conscious of her appearance but is concerned that something may be wrong since she has not yet had her first period. The patient’s temperature is 97.9°F (36.6°C), blood pressure is 116/70 mmHg, pulse is 66/min, and respirations are 12/min. On exam, the patient appears her stated age and is of normal stature. She has Tanner 5 breast development but Tanner 2 pubic hair. On gynecologic exam, external genitalia appears normal, but the vagina ends in a blind pouch. Lab studies demonstrate that the patient has elevated levels of testosterone, estrogen, and luteinizing hormone. Which of the following is the most likely karyotype for this patient?
A46, XX
B47, XXY
C45, XO
D46, XY
E47, XYY
A 16-year-old girl is brought to the physician because she has not attained menarche. There is no personal or family history of serious illness. She is 165 cm (5 ft 5 in) tall and weighs 60 kg (132 lb); BMI is 22 kg/m2. Breast development is Tanner stage 4, and pubic hair development is Tanner stage 1. Pelvic examination shows a blind vaginal pouch. This patient is most likely to have which of the following karyotypes?
A47,XYY
B46,XY
C47,XXY
D46,XX
E45,XO
A 3-year-old girl is brought to the physician by her parents for complaints of breast development and pubic hair growth for the past 6 months. She has no significant birth or medical history. The temperature is 37.0°C (98.6°F), the pulse is 88/min, and the respirations are 20/min. Physical examination shows enlarged breasts at Tanner stage 3 and pubic hair at stage 2. Height and weight are in the normal range. On GnRH stimulation testing, a luteinizing hormone (LH) response of < 5 IU/L is detected. What is the most appropriate next step in diagnosis?
APerform leuprolide stimulation test to measure testosterone
BMeasure baseline estradiol levels and perform pelvic ultrasound
CMeasure FSH levels to evaluate pituitary function
DCalculate LH:FSH ratio from previous GnRH test
ERepeat GnRH stimulation test to confirm LH response
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