Congenital Anomalies

Question 1

What is true hermaphroditism?

Answer 1

Intersex condition in which both testicular and ovarian tissue are present

One testicle underneath ovary or both ovotesticular tissue present

It is non functioning

Question 2

What is the karyotype of true hermaphroditism

Answer 2

47XXY
46XX/46XY
46XX/47XXY

Question 3

What is the condition of external genitali in true hermaphroditism?

Answer 3

Ambiguous
Depends on level of testosterone produced at 8- 16 weeks of gestation

Question 4

Pseudo hermaphroditism

Answer 4

Secondary sexual characteristics (phenotype) are different from the gonad tissue
External sex organs look intermediate between clitoris or penis

Question 5

What is aphallia

Answer 5

Agenesis of the penis due to absence of genital tubercle
Associated with other GU, cardiopulmonary and MSK disorders

Question 6

What is diphallia

Answer 6

Double penis
Associated with hypospadias, bifid scrotum, renal agenesis and bladder duplication

Question 7

What is hypospadias

Answer 7

Urethral opening on the ventral surface of the penis
MAMLD1 gene mutation
Associated with undescended testes

Question 8

What is phimosis

Answer 8

Orifice of prepuce is small that it doesn’t retract from the penis