NBME 10. 82Q - Klinefelter syndrome (and others)

Question 1

Seminiferous tubule dysgenesis (Klinefelter) syndrome is caused by an karyotype + what in semen?

Answer 1

XXY genotype with symptoms secondary to decreased testosterone production and absent sperm production in the setting of fibrotic seminiferous tubules and Leydig cells.

Question 2

Klinefelter.
Phenotypic variability occurs, but the common presentation includes cryptorchidism or small testes, learning disabilities or behavioral issues, delayed pubertal development, signs of androgen deficiency (eg, gynecomastia), and infertility, often in a patient who is tall with a disproportionate leg-to-arm length.

Answer 2

.

Question 3

Klinefelter. LF, FSH, testosterone?

Answer 3

increased follicle-stimulating hormone (FSH) and luteinizing hormone (LH) with low testosterone.

Question 4

Klinefelter. Dx?

Answer 4

Diagnosis is made through karyotype analysis.

Question 5

Klinefelter. Tx?

Answer 5

Treatment is supportive with testosterone supplementation and counseling.

Question 6

Kiti ats. Constitutional delay of puberty (Choice B) is a normal variant of puberty that occurs as a result of a ……?

Answer 6

a transient defect in the production of gonadotropin-releasing hormone with resultant delay in the stimulation of pituitary production of FSH and LH.

Question 7

Kiti ats. Constitutional delay of puberty (Choice B). Hx of what?

Answer 7

It is frequently seen in patients with a familial history of delayed puberty.

Question 8

Kiti ats. Incomplete androgen insensitivity syndrome (Choice C). phenotypes?

Answer 8

phenotypes, including a female phenotype with virilization to a male phenotype with lack of secondary sexual characteristics or infertility.

Question 9

Kiti ats. Incomplete androgen insensitivity syndrome (Choice C). If phenotypic male, CP?

Answer 9

The phenotypically male patients commonly have a micropenis, hypospadias, gynecomastia, and minimal body hair.

Question 10

Kiti ats. Normal variant of puberty.
Physiologic pubertal gynecomastia is a benign proliferation of glandular breast tissue in boys aged …?

Answer 10

12 to 14 years.

Question 11

Kiti ats. Normal variant of puberty.
physiologic pubertal gynecomastia in what tanner?

Answer 11

most commonly during Tanner stage 3 of puberty.

Question 12

UW. Klinefelter syndrome (47,XXY) causes primary ….. + LH and testosterone levels?

Answer 12

causes primary hypogonadism, which is characterized by low testosterone and elevated LH. This patient has low LH and signs of excess androgen.