Puberty, Disorders of Development, and Menstrual Disorders (Moulton)

Question 1

What refers to o the development of any sign of secondary sexual characteristics prior to an age 2.5 standard deviations earlier then the expected age of pubertal onset?

Answer 1

Precocious puberty

Question 2

__1__ precocious puberty is characterized by development of secondary sexual characteristics opposite those of anticipated phenotypic sex.

__2__ precocious puberty is characterized by premature sexual maturation that is appropriate for the phenotype of the affected individual.

Answer 2

1) Heterosexual

2) Isosexual

Question 3

What virilizing tumor can cause hetersexual precocious puberty, is exceedingly rare in childhood, and usually originates in the ovaries?

What do they secrete?

Answer 3

1) Sertoli-Leydig cell

2) Androgens

Question 4

Congenital adrenal hyperplasia which can cause heterosexual precocious puberty, most commonly results from defect of the the adrenal enzyme ____ leading to excessive androgen production.

Answer 4

21-hydroxylase

Question 5

True isosexual precocious puberty can be diagnosed with administration of exogenous __1__ and see a resultant rise in __2__ levels consistent with older girls who are undergoing normal puberty.

Answer 5

1) GnRH

2) LH

Question 6

What is the treatment for true isosexual precocious puberty?

This suppresses the pituitary release of?

Answer 6

1) GnRH agonist (leuprolide acetate)

2) FSH and LH

Question 7

Pseudoisosexual precocity results in increase __1__ levels and cause sexual characteristic maturation without activation of __2__.

Answer 7

1) Estrogen

2) HPO axis

Question 8

A cause of pseudoisosexual precocity is ____, which presents as multiple cystic bone defects, café au lait spots, and adrenal hypercortisolism.

Answer 8

McCune-Albright syndrome (Polyostotic fibrous dysplasia)

Question 9

A cause of pseudoisosexual precocity is ____, which is associated with a sex cord tumor that secretes estrogen, gastrointestinal polyposis, and mucocutaneous pigmentation.

Answer 9

Peutz-Jeghers syndrome

Question 10

What conditions can cause primary amenorrhea due to hypogonadotropic hypogonadism?

Answer 10

1) Anorexia nervosa

2) Kallmann syndrome

Question 11

Kallmann syndrome is characterized by a mutation of the KAL gene on the X chromosome that prevents the migration of the __1__ neurons into the __2__.

Answer 11

1) GnRH

2) Hypothalamus

Question 12

What condition can cause primary amenorrhea due to hypergonadotropic hypogonadism?

Answer 12

Turner syndrome (45 XO)

Question 13

Turner syndrome is the most common form of female ____.

Answer 13

Gonadal dysgenesis

Question 14

What are some findings associated with Turner’s syndrome?

Answer 14

1) Webbing of the neck
2) Broad flat chest
3) Short stature
4) Rudimentary streaked ovaries
5) Coarctation of the aorta

Question 15

What conditions can cause primary amenorrhea with breast development?

Answer 15

1) Androgen insensitivity syndrome (AIS)

2) Mullerian agenesis

Question 16

Androgen Insensitivity Syndrome is characterized by __1__ karyotype.

It causes male like levels of __2__.

Testes form in the abdominal wall and secrete normal amounts of __3__ hormones causing no uterus to form.

Normal external female genitalia is present but with absent to sparse __4__.

Answer 16

1) 46XY
2) Testosterone
3) Anti Mullerian
4) Pubic hair

Question 17

__1__ is the most common cause of primary amenorrhea in women with normal breast development.

It has __2__ karyotyping.

It has __3__ testosterone levels.

__4__ anomalies are common with this.

Answer 17

1) Mullerian agenesis (Meyer-Rokitansky-Kuster-Hauser syndrome)
2) 46XX
3) Normal
4) Renal

Question 18

Absence of a normal __1__ is known as mullerian agenesis (Meyer-Rokitansky-Kuster-Hauser syndrome).

It is characterized by failure of __2__.

Answer 18

1) Uterus

2) Mullerian ducts to fuse

Question 19

What should you suspect in adolescents if a vaginal bulge and midline cystic mass are found and they present complaining of monthly dysmenorrhea without vaginal bleeding?

What if they present with similar symptoms but do not have a vaginal bulge?

Answer 19

1) Imperforate hymen

2) Transverse vaginal septum

Question 20

Secondary amenorrhea is defined as absence of menstruation for how long?

Answer 20

6 months

Question 21

In the diagnostic evaluation of a patient with secondary amenorrhea, what labs do you want to draw?

Answer 21

1) Urine hCG
2) TSH
3) Prolactin

Question 22

Galactorrhea is the most common symptom of?

Answer 22

Hyperprolactinemia

Question 23

When prolactin levels are really high (> 100ng/mL) why would you want to order a head MRI?

Answer 23

Evaluate for prolactinoma (pituitary adenoma) and empty sella syndrome

Question 24

What is the most common cause of secondary amenorrhea associated with normogonadotropic hypogonadism?

Answer 24

Polycystic ovarian syndrome

Question 25

When working up a diagnosis for secondary amenorrhea, a negative estrogen/progesterone challenge test indicates? A positive test estrogen/progesterone challenge test with elevated FSH & LH (hypergonadotropic hypogonadism) indicates? A positive test estrogen/progesterone challenge test with normal or low FSH & LH (hypogonadotropic hypogonadism) indicates?

Answer 25

1) Outflow tract obstruction 2) Abnormality the ovaries 3) Abnormality with the hypothalamic-pituitary axis

Question 26

What are some anatomic causes of secondary amenorrhea?

Answer 26

1) Asherman syndrome | 2) Cervical stenosis

Question 27

Amenorrhea can occur in Nonclassic Congenital Adrenal Hyperplasia which do not present with genital abnormalities. What levels are elevated with this condition?

Answer 27

17-hydroxyprogesterone

Question 28

Amenorrhea can occur in __1__ syndrome which presents as central obesity, moon-like face, buffalo hump, and HTN. __2__ levels are elevated.

Answer 28

1) Cushing's | 2) Cortisol

Question 29

What is the leading cause of female anovulatory infertility?

Answer 29

Polycystic ovarian syndrome (PCOS)

Question 30

In 60-70% of PCOS patients ____ sensitivity is decreased leading to ____ hypersecretion.

Answer 30

Insulin

Question 31

With PCOS, the elevated insulin and androgen levels reduce the hepatic production of sex hormone binding globulins leading to an increase in circulating? The LH to FSH ratio will be?

Answer 31

1) Testosterone | 2) 2:1

Question 32

The presentation of an obese female patient, anovulation, hirsutism, and acanthosis nigricans points to?

Answer 32

PCOS

Question 33

Because PCOS can lead to chronic anovulation, this increases the risk for ___ cancer.

Answer 33

Endometrial

Question 34

What are treatment options for PCOS?

Answer 34

1) Weight loss 2) OCPs 3) Clomiphene citrate (induce ovulation) 4) Spironolactone (competes for testosterone-binding sites)

Question 35

24 hr free urinary cortisol or an overnight dexamethasone suppression test can be ordered to rule out?

Answer 35

Cushing syndrome

Question 36

17-hydroxyprogesterone levels are ordered to exclude?

Answer 36

Congenital Adrenal Hyperplasia (21 hydroxylase-deficient)

Question 37

DHEA-S levels in excess of 7000ng/ml you should suspect? Total testosterone > 200ng/dl you should suspect?

Answer 37

1) Adrenal androgen producing tumor | 2) Ovarian androgen producing tumor

Question 38

__1__ is characterized by no menstruation by 13 y/o without secondary sexual development OR by the age of 15 years with secondary sexual characteristics. __2__ is characterized by the absence of menses for 6 months or more. __3__ is characterized by abnormally frequent menses at intervals at < 21 days. __4__ is characterized by excessive and/or prolonged bleeding (>80mL and > 7 days) occurring at normal intervals. __5__ is characterized irregular episodes of uterine bleeding __6__ is characterized heavy and irregular uterine bleeding __7__ is characterized scant bleeding at ovulation for 1 or 2 days __8__ is characterized menstrual cycles occurring >35 days but less then 6 months.

Answer 38

1) Primary Amenorrhea 2) Secondary Amenorrhea 3) Polymenorrhea 4) Menorrhagia (hypermenorrhea) 5) Metrorrhagia 6) Menometrorrhagia 7) Intermenstrual bleeding 8) Oligomenorrhea