Developmental Biology of Sex, Errors In Sexual Determination & Differentiation , Congenital Anomalies Of Genital Tract

Question 1

What is the single most consistent determinant of maleness?

Answer 1

Presence of Y chromosome

Question 2

The Wolffian ducts can differentiate into which structures? (3)

Answer 2

1. Epididymis
2. Vas deferens
3. Seminal vesicles

Question 3

The Mullerian ducts can differentiate into which structures? (4)

Answer 3

Uterus
Fallopian tube
Cervix
Upper vagina 1/3

Question 4

Which hormone is responsible for the differentiation of Wollfian ducts?

Answer 4

Testosterone

Question 5

Which hormone is responsible for the differentiation of Mullerian ducts?

Answer 5

Mullerian Inhibiting Factor

Question 6

This error in gametogenesis occurs when chromosomes fail to separate during meiosis, leading to one of the daughter cells having both chromosomes, while the other has none.

Answer 6

Nondisjunction

Question 7

What condition leads to male pseudohermaphroditism ?

Answer 7

Androgen insensitivity

Question 8

What condition leads to female pseudohermaphroditism ?

Answer 8

Congenital Adrenal Hyperplasia

Question 9

Treatment of uterine septum?

Answer 9

Operative hysteroscopic septoplasty or metroplasty

Question 10

Syndrome where the patient is genetically male but with congenital absence of testes .

Answer 10

Swyer Syndrome / Pure Gonadal Agenesis 46 XY

Question 11

Syndrome where there is failure of the ovaries to respond to FSH and LH secondary to receptor defect.

Answer 11

Savage Syndrome

Question 12

Commonly associated with anomalies of the uterus? (2)

Answer 12

1. Inguinal hernias
2. Urinary Tract Anomalies
   - unilateral renal agenesis
   - horseshoe kidneys

Question 13

Condition commonly misdiagnosed as imperforate hymen ?

Answer 13

Vaginal atresia

Question 14

Reproductive structures arising from the Mullerian system? (3)

Answer 14

1. Fundus of the uterine corpus
2. Fallopian tubes
3. Endocervix

Question 15

Syndrome of Congenital absence of GnRH with associated anosmia?

Answer 15

Kallman Syndtome

Question 16

History shows glucose intolerance, hypertension, buffalo hump , central obesity.
What’s the Laboratory test and Treatment?

Answer 16

Dexamethasone suppression test
Surgical

Question 17

Rapid onset virilism with abdominal mass. Whats the diagnosis, appropriate lab test and management?

Answer 17

Adrenal tumor
DHEAS
Surgical

Question 18

Diagnosis and management. Patient with Ambiguous genitalia, hypotension and elevated 17-hydroxyprogesterone.

Answer 18

Congenital Adrenal hyperplasia
Replace cortisol and mineralocorticoid

Question 19

Onset since menarche, hirsutism , rarely virilization. Diagnosis and Lab findings?

Answer 19

Elevated LH-FSH ratio
PCOS

Question 20

Rapid onset, Hirsutism , virilism, adnexal mass. Diagnosis ,Lab finding , Treatment?

Answer 20

Sertoli-Leydig Cell Tumor
Elevated Testosterone lvls
Surgical