FemaleReproductive7-11

Question 1

What is the medical term for excess male pattern hair growth in a woman?

Answer 1

Hirsutism

Question 2

What is the most common cause of hirsutism?

Answer 2

Polycystic ovary syndrome (PCOS)

Question 3

Treatment:

Hirsutism in a female with PCOS

Answer 3

Combination oral contraceptives are the preferred treatment for hirsutism particularly when due to PCOS.

Question 4

What diagnostic marker is common to each of the following:

1. Multiple gestations
2. Open neural tube defects
3. Abdominal wall defects

Answer 4

Increased alpha-fetoprotein levels

Question 5

Describe the expected results of a quadruple screen for a fetus with Down Syndrome (Trisomy 21).

Maternal serum alpha-fetoprotein
Unconjugated estriol
Beta-hCG
Inhibin A

Answer 5

Maternal serum alpha-fetoprotein –> Low
Unconjugated estriol –> Low
Beta-hCG –> High
Inhibin A –> High

Question 6

The complete or paritial loss of an X Chromosome usually results from

Answer 6

paternal meiotic nondisjunction

Question 7

Which type of nondisjunction results in Klinefelter syndrome, Turner’s syndrome and triosmies 13, 18 and 21?

Answer 7

Meiotic nondisjunction

Question 8

Pathogenesis:

Turner’s syndrome

Answer 8

1. loss of paternal X chromosome leads to missing SHOX gene
2. Missing SHOX gene results in dysfunctional long bone growth
3. Turner’s patients end up with short stature

Question 9

What clinical symptomology is associated with a balanced, reciprocal translocation?

Answer 9

A balanced, reciprocal translocation is clinicallly silent because it does not result in an excess or shortage of genetic material. However, a parent with a balanced translocation is at risk for having a child with an unbalanced translocation.

Question 10

What is an acrocentric chromosome?

Answer 10

A chromosome where the centromere is very close to one end.

Question 11

Diagnosis:

Lymphedema + neck mass with cyst filled spaces (cystic hydroma)

Answer 11

Turner’s Syndrome

Also: aortic abnormalities (no lower extremity pulses), primary amenorrhea, low set ears, high arched palate, low hairline, webbed neck, widely spaced nipples, cubitus valgus, streak ovaries, short stature.

Question 12

Diagnosis:

Newborn female child with a posterior neck mass, arms swollen bilaterally, decreased femoral pulse.

Answer 12

Turner’s Syndrome

posterior neck mass –> cystic hygroma
bilaterally swollen arms –> lymphedema; this will decrease with age
decreased femoral pulse –> suggest coarctation of the aorta

Question 13

Why should you monitor the beta-hCG levels of a female post evacuation of a hydatidiform mole?

Answer 13

Persistently elevated or rising levels of beta-hCG may indicate: (1) invasive mole or (2) choriocarcinoma.

Question 14

Most common congenital breast anomaly?

Answer 14

Accessory nipple

Question 15

A mutation in which gene(s) increases the risk of developing breast and ovarian cancer?

Answer 15

BRCA1 & BRCA2 (DNA repair genes)

Question 16

Why might both a young female with recent menarche and an elderly perimenopausal female experience spotting outside of the normal period and variable menstruation cycles?

Answer 16

Anovulation

Question 17

Diagnosis:

Your patient is 8 weeks postpartum and presents with (1) SOB (2) hemoptysis and (3) abnormal vaginal bleeding. Upon examination you find that she has (4) increased _-hCG and (5) a bulky intrauterine mass.

Answer 17

Choriocarcinoma

These are aggressive tumors that commonly metastasize to the lung and present after abortion, ectopic pregnancy, normal pregnacy or evacuation of a hydatidiform mole. The tumor cells consists of proliferations of cytotrophoblasts and syncytiotrophoblasts.