Repro

Question 1

In Klinefelter’s, what would you expect the FSH, LH, Testosterone, and Sperm count to be?

Answer 1

It’s a hypgonadal state, but the HPO axis isn’t messed up. So LH and FSH should be elevated, Testosterone would be decreased, and no Sperm production. Remember, he’s XXY.

Question 2

One common treatment in prostate cancer is androgen-deprivation therapy (GnRH agonists, Androgen receptor competitors). What drug should be given to avoid the side effects of ADT?

Answer 2

Give Selective Estrogen Receptor Modulators (Tamoxifen, Raloxifene) to avoid gynecomastia in males.

Question 3

A woman wants to switch from progestin-only pills to combined oral contraceptives. What’s the difference?

Answer 3

Progestin-only pills thin the uterine lining and thicken the cervical mucus.
The combined oral contraceptives suppress GnRH and pituitary gonadotropin secretion (due to estrogen as well), thus inhibiting ovulation in general.

Question 4

A baby is born with sacral agenesis causing lower extremity paralysis and urinary incontinence. What is the diagnosis, and what is the cause?

Answer 4

Diagnosis: Caudal Regression Syndrome
Cause: Uncontrolled maternal diabetes.

Question 5

When does a child develop an understanding of the concept of gender?
When do they have a permanent sense of their own gender?
What differentiates exploration as opposed to gender dysphoria?

Answer 5

Understanding of gender=3-4
Permanent sense of gender=5-6
Gender dysphoria=prolonged and intense feelings that one’s gender does not match their birth sex.

Question 6

A girl has Turner Syndrome. What cardiac abnormality would you expect?

Answer 6

You would expect a bicuspid aortic valve (normal=tricuspid). You would also expect ovarian dysgenesis, preductal coarctation, webbed neck, widely spaced nipples, and a horseshoe kidney.
It’s the MOST COMMON cause of primary amenorrhea.

Question 7

A mother is Blood Type A, and her baby is BT B. Why is there no erythroblastosis fatalis?
Why would there be issues if mom is Type O?

Answer 7

For Type A and B, the mother’s possess the antibodies (anti-B or anti-A) as IgM immunoglobulins. IgM does not cross the placenta.
For Type O, the mother possesses anti-A&B in the form of IgG, which does cross the placenta and can create issues in the newborn.

Question 8

A baby is born with undescended testicles and hypospadias. His karyotype is 46 XY. What enzyme and hormone are most likely deficient?

Answer 8

5 alpha reductase and DHT.
5 alpha reductase converts testosterone into DHT. DHT in turn promotes formation of external genitalia, balding, and growth of prostate.

Question 9

A baby is shown to be 47 XX +21 as well as nuchal translucency. What would the alpha-fetoprotein levels be in the womb, and what is the baby at risk of developing?

Answer 9

Alpha fetoprotein would be low.

Baby is at risk of developing Duodenal atresia (most significant risk). Also at risk of Hirschsprung, imperforate anus,

Question 10

A baby is found to have no Sertoli cells but normal Leydig cells. What will their development look like?

Answer 10

Internally they will have both male and female organs (Sertoli cells released AMH/MIF to stop mullerian ducts from developing).
Externally they will have normal male genitalia (b/c Leydig cells secrete testosterone which promotes external genitalia development.

Question 11

Woman has heavy, painful menstrual bleeding with a uniformly large uterus. Diagnosis?

Answer 11

Adenomyosis (endometrial tissue growing within the myometrium). They will have normal appearing endometrium on biopsy.

Question 12

Someone is found to have a hydrocele. What anatomical structure is persistent, and what else are they at risk of developing?

Answer 12

The processus vaginalis is persistent. This makes it so that abdominal organs can pass through the opening, resulting in an INDIRECT inguinal hernia.

Question 13

A woman gives birth and then is bleeding like crazy. What artery should be ligated to stop the bleeding but maintain fertility?

Answer 13

The internal iliac artery. The uterine artery branches off of the internal iliac. All other structures that come from here have collateral flow.

Question 14

A child presents with developmental delay, a long narrow face, prominent chin and forehead, and large testes, along with hyperlaxity of the hand joints.
What is the diagnosis, and why isn’t it Ehler-Danlos syndrome?

Answer 14

This is Fragile X Syndrome.
Ehlers-Danlos syndrome is a CT issue and does not include intellectual disability and tends to have skin hyperelasticity and joint hyperlaxity.

Question 15

What are the hallmarks of an esophageal atresia with tracheoesophageal fistula, and what is the embryologic reason?

Answer 15

Hallmarks: Polyhydramnios in the womb (baby can’t swallow the fluid), significant drooling, choking, coughing and cyanosis while feeding, X-rays would show an air bubble in stomach.
Embryologically, the trachea and esophagus both develop from primitive foregut. Trachea should separate off, but if not there is often a fistula, along with esophageal atresia.
Diagnosis: failure to pass NG tube into stomach

Question 16

Distinguish between purpose of following in developing embryo:
MIH
Testosterone
DHT

Answer 16

MIH: Causes degeneration of Mullerian (paramesonephric) ducts.
Testosterone: Causes male internal genitalia development
DHT: Male external genitalia differentiation

Question 17

What ligment must be ligated during oophorectomy?

Answer 17

The suspensory ligament-it contains the artery, vein, and nerve that supply the ovary.

Question 18

In Down Syndrome (Trisomy 21), in what phase does nondisjunction typically occur?

Answer 18

Meiosis 1

Question 19

A little 3 year old kid has intellectual disability, and is found to have 226 CGG trinucleotide repeats on the X chromosome. What’s the cause?

Answer 19

Fragile X syndrome, defect that affects methylation and expression of the FMR1 gene. They will also have enlarged testes, large jaw, and mitral valve prolapse.

Question 20

What’s the common heart abnormality found in Turner Syndrome?

Answer 20

Bicuspid aortic valve

Question 21

What are the 2 main types of treatments for BPH, and how can you tell the difference between the 2 treatments?

Answer 21

Alpha adrenergic antagonists (-osins) and 5-alpha reductase inhibitors (ie finasteride).
The alphas work quickly but don’t affect prostate volume.
The 5-alpha reductase reduce volume but take 6 months to a year to take effect.

Question 22

What should point your towards and anterior urethral injury in a male?
Posterior?

Answer 22

Anterior: Straddle Injury
Posterior: Pelvic fracture, inability to void, high riding boggy prostate, feeling of bladder fullness. Don’t put in a Foley Catheter.

Question 23

What anatomical structure is typically involved in ovarian torsion?

Answer 23

The suspensory ligament (infundibulopelvic ligament).

Question 24

In what diseases is the genetic principle of anticipation more likely?
Which parent is likely to cause anticipation?

Answer 24

Diseases with trinucleotide repeats such as Huntington’s, Fragile X Syndrome, myotonic dystrophy, and Freidreich ataxia.
If a father passes it on it is more likely to have more repeats (due to spermatogenesis). This isn’t the same in mothers.