Pediatric Male/Female Reproductive System

Question 1

All sexually active women age [] should be screened for Chlamydia trachomatis and Neisseria gonorrhoeae.

e.g. nucleic acid amplification testing

Answer 1

All sexually active women age >24 should be screened for Chlamydia trachomatis and Neisseria gonorrhae.

e.g. nucleic acid amplification testing

Question 2

Congenital hydrocele occurs due to incomplete obliteration of the […] in infants.

Answer 2

Congenital hydrocele occurs due to incomplete obliteration of the processus vaginalis in infants.

Question 3

Do adolescents seeking pregnancy prevention options (e.g. OCPs, emergency contraception) need parental consent?

Answer 3

No

Question 4

Fetal macrosomia is associated with increased risk for shoulder […].

Answer 4

Fetal macrosomia is associated with increased risk for shoulder dystocia.

potential complications of shoulder dystocia include clavicle fracture, brachial nerve palsies, and perinatal asphyxia

Question 5

In […] syndrome a person is genotypically XY but has female external genitalia with male internal genitalia.

Answer 5

In androgen insensitivity syndrome a person is genotypically XY but has female external genitalia with male internal genitalia.

i.e. the presence of the lower vagina, clitoris, and labia with cryptorchid testes

Question 6

In androgen insensitivity syndrome a person is genotypically XY but has […] external genitalia with […] internal genitalia.

Answer 6

In androgen insensitivity syndrome a person is genotypically XY but has female external genitalia with male internal genitalia.

i.e. the presence of the lower vagina, clitoris, and labia with cryptorchid testes

Question 7

In 5α-reductase deficiency, a person is genotypically XY but has ambiguous […] genitalia with normal male […] genitalia.

Answer 7

In 5α-reductase deficiency, a person is genotypically XY but has ambiguous external genitalia with normal male internal genitalia.

due to lack of dihydrotestosterone, which is necessary for external genitalia development – at puberty, elevated levels of testosterone cause external genitalia growth

Question 8

In […] deficiency, a person is genotypically XY but has ambiguous external genitalia with normal male internal genitalia.

Answer 8

In 5α-reductase deficiency, a person is genotypically XY but has ambiguous external genitalia with normal male internal genitalia.

due to lack of dihydrotestosterone, which is necessary for external genitalia development – at puberty, elevated levels of testosterone cause external genitalia growth

Question 9

Kallmann syndrome presents as infertility in males and amenorrhea in females; […] may be present in both sexes.

Answer 9

Kallmann syndrome presents as infertility in males and amenorrhea in females; anosmia may be present in both sexes.

due to failure of GnRH migration (thus decreased FSH, LH, and testosterone) and olfactory bulb formation

Question 10

Klinefelter syndrome is characterized by a […],[…] karyotype.

Answer 10

Klinefelter syndrome is characterized by a 47,XXY karyotype.

Question 11

Maternal hyperglycemia is associated with macrosomia, secondary to fetal […].

Answer 11

Maternal hyperglycemia is associated with macrosomia, secondary to fetal hyperinsulinemia.

Question 12

Patients with Turner syndrome typically have […] levels of estrogen.

Answer 12

Patients with Turner syndrome typically have low levels of estrogen.

due to ovarian dysgenesis; results in high levels of FSH/LH due to lack of negative feedback

Question 13

Primary amenorrhea is defined as the absence of menarche by age […].

Answer 13

Primary amenorrhea is defined as the absence of menarche by age 15.

Question 14

Size and tenderness of a fibroadenoma of the breast typically increases prior to […].

Answer 14

Size and tenderness of a fibroadenoma of the breast typically increases prior to menstruation.

Question 15

Small for gestational age (SGA) infants have a birth weight that is below the […] percentile for gestational age.

Answer 15

Small for gestational age (SGA) infants have a birth weight that is below the 10th percentile for gestational age.

Question 16

What hematologic complication may be seen in a newborn with low birth weight and intrauterine growth restriction?

Answer 16

Polycythemia

due to increased erythropoietin secretion in response to fetal hypoxia; other complications include hypoglycemia, hypothermia, and hypocalcemia

Question 17

What is the first-line treatment for primary dysmenorrhea?

Answer 17

NSAIDs and/or OCPs

treatment preference depends if the patient is sexually active (OCPs) or sexually inactive (NSAIDs)

Question 18

What is the likely diagnosis in a macrosomic newborn with crepitus over the clavicle and asymmetric Moro reflex?

Answer 18

Clavicular fracture (secondary to shoulder dystocia)

diagnosis is confirmed with X-ray

Question 19

What is the likely diagnosis in a patient with pelvic cramping during the first few days of menses with a normal physical examination?

Answer 19

Primary dysmenorrhea

due to uterine contractions triggered by prostaglandin release from sloughing endometrium

Question 20

What is the likely diagnosis in a young girl that presents with breast development and a white, odorless vaginal discharge with an ovarian mass on ultrasound?

Answer 20

Granulosa cell tumor

white, odorless vaginal discharge is indicative of estrogen stimulation

Question 21

What is the likely diagnosis in an adolescent female that presents with amenorrhea with a non-palpable uterus and normal-size ovaries on ultrasound?

Answer 21

Mullerian agenesis (Mayer-Rokitanksy-Kuster-Hauser syndrome)

primary amenorrhea due to lack of uterine development; still have normal ovaries with normal axillary and pubic hair

Question 22

What is the likely diagnosis in an adolescent patient with a unilateral, mobile, well-circumscribed mass in the outer quadrant of the breast that becomes tender prior to menstruation?

Answer 22

Fibroadenoma

fibroadenoma is the most common cause of breast mass in an adolescent

Question 23

What is the likely underlying etiology of painless, irregular, heavy menses in an adolescent girl that started menstruation one year ago?

Answer 23

Immaturity of the hypothalamic-pituitary-ovarian axis

results in anovulatory cycles, which causes abnormal uterine bleeding

Question 24

What is the most common cause of vaginal bleeding in the neonatal period?

Answer 24

Maternal withdrawal of estrogen

typically manifests as a white vaginal discharge mixed with blood within the first 2 weeks of life

Question 25

What is the most effective emergency contraceptive?

Answer 25

Copper IUD copper IUD \> ulipristal pill \> levonorgestrel pill (plan B) \> OCPs

Question 26

What is the next step in management for a macrosomic newborn with a clavicular fracture secondary to shoulder dystocia?

Answer 26

Reassurance neonatal clavicular fractures usually heal spontaneously within 7 - 10 days

Question 27

What is the next step in management for a newborn male with a cystic testicular mass that is transilluminated with light?

Answer 27

Reassurance and observation most cases spontaneously resolve by 12 months of age; those that persist should be surgically removed to decrease the risk of inguinal hernia

Question 28

What is the next step in management for a newborn that presents with bilaterally enlarged mammary glands and whitish vaginal discharge?

Answer 28

Reassurance breast hypertrophy and leukorrhea are due to transplacental maternal estrogen exposure

Question 29

What is the next step in management for a young girl that presents with a foul-smelling vaginal discharge with a whitish foreign body inside the vaginal introitus on physical exam?

Answer 29

irrigation with warmed fluid or removal with a calcium alginate swab sedation and general anesthesia may be required if these techniques are unsuccessful or if the foreign body is large

Question 30

What is the next step in management for an adolescent female that presents with nausea/vomiting and RLQ abdominal pain with an unknown last menstrual period? ## Footnote [...]

Answer 30

Urine pregnancy testing (e.g. hCG) transvaginal ultrasound may help distinguish between different etiologies after pregnancy testing

Question 31

What is the next step in management for an adolescent girl that presents with primary amenorrhea and absent breast development with a uterus present on ultrasound?

Answer 31

Measure serum FSH level helps distinguish between central (low FSH) and peripheral (high FSH) causes; absent breast development indicates a lack of estrogen, thus estrogen levels do not need to be measured

Question 32

What is the next step in management for an adolescent girl with primary amenorrhea with a uterus present on ultrasound and high FSH levels?

Answer 32

Karyotyping high FSH is indicative of a peripheral cause, such as hypogonadotropic amenorrhea (e.g. Turner's syndrome)

Question 33

What is the next step in management for an adolescent girl with primary amenorrhea with a uterus present on ultrasound and low FSH levels?

Answer 33

Brain MRI low FSH is indicative of a central cause, such as hypothalamic or pituitary abnormalities

Question 34

What is the next step in management for an adolescent that presents with a tender breast mass a few days prior to menstruation?

Answer 34

Follow-up after menses if the breast mass decreases in size and/or tenderness, it is likely a fibroadenoma and the patient can be reassured

Question 35

What is the preferred imaging modality for the initial evaluation of a patient with primary amenorrhea?

Answer 35

Pelvic ultrasound useful for evaluating internal female anatomy (e.g. uterus, ovaries), which helps distinguish underlying etiologies

Question 36

What is the recommended treatment for a hemodynamically stable adolescent with heavy vaginal bleeding?

Answer 36

High-dose oral contraceptives or IV estrogen estrogen stabilizes the endometrium and stops menstrual bleeding, while progestin stabilizes the lining and prevents further proliferation; dilation and curettage and/or RBC transfusion may be needed in hemodynamically unstable patients

Question 37

What is the underlying cause of hand and foot swelling in a newborn patient with Turner syndrome?

Answer 37

Abnormal development of the lymphatic system (congenital lymphedema)

Question 38

What kidney abnormality is associated with Turner syndrome?

Answer 38

Horseshoe kidney

Question 39

What musculoskeletal pathology is associated with Turner syndrome?

Answer 39

Osteoporosis estrogen deficiency leads to increased bone resorption (estrogen typically inhibits osteoclast-mediated bone resorption)

Question 40

When should patients with androgen insensitivity syndrome have bilateral gonadectomy?

Answer 40

After puberty gonad-stimulated puberty helps attain adult height (the testes still produce testosterone); cryptorchid gonads have a small risk of developing into a dysgerminoma or gonadoblastoma after puberty and thus should be removed

Question 41

Which sex chromosome disorder is associated with gynecomastia, female hair distribution, tall/long extremities and eunuchoid body shape in a male?

Answer 41

Klinefelter syndrome (47,XXY)

Question 42

Which sex chromosome disorder is associated with short stature, primary amenorrhea, and absent thelarche in a female?

Answer 42

Turner syndrome other characteristic features include webbed neck, shield chest, cystic hygroma, horseshoe kidney, bicuspid aortic valve, and streak ovary

Question 43

[...] is the failure of the testicle to descend into the scrotal sac.

Answer 43

**Cryptorchidism** is the failure of the testicle to descend into the scrotal sac. if not descended by 6 months, orchiopexy is performed before 1 year of age to prevent testicular torsion, improve fertility, and decrease risk of testicular malignancy

Question 44

Kallmann syndrome is characterized by a defective migration of [...] cells and defective formation of the olfactory bulb.

Answer 44

Kallmann syndrome is characterized by a defective migration of **GnRH** cells and defective formation of the olfactory bulb. results in delayed/absent puberty and anosmia with a normal karyotype

Question 45

[...] syndrome is characterized by a defective migration of GnRH cells and defective formation of the olfactory bulb.

Answer 45

Kallman Syndrome