Syndromes

Question 1

What is the karyotype of GONANDAL DISEASE?

Answer 1

XX or XY

Question 2

What is the phenotype of GONADAL DYSGENESIS?

Answer 2

Female w no secondary sexual characteristics; streak gonads if XX or XY

But mosaic have variable phenotype

Question 3

What are the eponyms of Gonadal dysgenesis?

Answer 3

Swyer syndrome

Prepubertal castrate syndrome

Question 4

What is the defect that results from cessation of MIS and testosterone production before full masculinization of the fetus?

Answer 4

Testicular regression

Question 5

What is the karyotype if testicular regression?

Answer 5

XY

Question 6

What is the eponym of testicular regression?

Answer 6

Anorchia

Question 7

What is the phenotype of testicular regression?

Answer 7

Male w no secondary sexual characteristics

Question 8

What is the karyotype of Turner’s Syndrome aka ovarian regression in utero?

Answer 8

XO or XO/XX Mosaic

Question 9

Results from a defect in androgen receptor but MIS and testosterone are present

Answer 9

Testicular feminization or Androgen insensitivity syndrome

Question 10

What is the karyotype of Testicular feminization or Androgen insensitivity syndrome?

Answer 10

XY

Question 11

What is the phenotype of Testicular feminization or Androgen insensitivity syndrome?

Answer 11

Female with breast development

Blind vaginal pouch

Scany pubic hair

Absence of cervix and vagina