Office-Reproductive endocrinology Flashcards
What is the most common cause of ambiguous genitalia?
Congenital adrenal hyperplasia
What is the most common cause of congenital adrenal hyperplasia?
21 hydroxylase deficiency
What is the pathophysiology behind congenital adrenal hyperplasia?
There is a deficiency of the enzyme 21 hydroxylase which blocks the production of cortisol. Since cortisol is not produced it cannot in turn provide negative feedback to switch off ACTH. This backs up the steroidogenesis pathway leading to more production of androgens
How does congenital adrenal hyperplasia affect the newborn?
- Ambiguous genitalia
- Shock due to lack of cortisol
- Salt wasting due to lack of aldosterone
What is the chronological order for puberty?
- Growth spurt
- Breast
- Pubarche
- Adrenarche
- Menarche
How long does it take for cycles to become regular after menarche?
Up to 6 years
When can you expect menarche?
2-3 years after breast budding
When should you evaluate amenorrhea in a adolescent?
- Amenorrhea with no secondary sexual development by age 13
- Amenorrhea with hirsutism at age 14
- Amenorrhea at age 15
- > 90 days without menses in a menstruating adolescent
When do you see precocious puberty?
Age 7 in white girls
Age 6 in black girls
What is precocious puberty?
Puberty that happens early
What is the lifecycle of a hair follicle?
Anagen- growth phase
Catagen- transition phase
Telogen- resting phase
What is the differential for hirsutism?
- PCOS
- CAH
- Tumor (ovary, adrenal)
- Drugs (androgens, danazol)
- Familial
How do you workup hirsutism?
17OHP
Total testosterone
DHEAS
What is the treatment for hirsutism?
OCP
Spironolactone
Finasteride
Flutamide
Eflornithine
Cosmetic depilation
What is the definition of primary amenorrhea?
- No menses by age 13 in absence of secondary sexual characteristics
- Delayed puberty
- No menses by age 15 or 4 years after onset of puberty
How do you classify the causes of primary amenorrhea?
Divide into the presence or absence of breast and uterus
What is the potential causes of amenorrhea if uterus and breast are present?
Presence of breast means estrogen is present and the cause of amenorrhea is secondary
What are secondary causes of amenorrhea?
Hypothalamic causes
Pituitary causes
Ovarian causes
Uterine causes
What is the potential causes of amenorrhea if uterus is present but breast is absent?
Absent breast mean absent estrogen
Primary amenorrhea
What are causes of primary amenorrhea with uterus present and breast absent?
Gonadal failure - Hypergonadotropic hypogonadism
CNS-hypothalamic-pituitary: hypogonadtropic hypogonadism
What are causes of primary amenorrhea with uterus absent and breast present?
- Uterovaginal agenesis (Mullerian agenesis)
- normal pubic hair - Androgen insensitivity
- sparse pubic hair
What are causes of primary amenorrhea with uterus absent and breast absent?
- 17,20 desmolase deficiency
- Agonadism
- 17 alpha hydroxylase deficiency
What is the definition of secondary amenorrhea?
No menses x 6 months or 3 missed cycles
What are causes of secondary amenorrhea?
- Pregnancy
- Hypothyroidism
- Hyperthyroidism
- PCOS
- CAH
- Stress or exercise
- Weight loss/anorexia
- medications
- Premature ovarian failure
- Androgen secreting tumors
- ACTH/GH secreting tumors
- Hypothalamic lesions
- Asherman syndrome
How do you start evaluation of primary amenorrhea?
- Exclude pregnancy
- History
- Physical exam
- Lab workup
What is important on medical history for evaluation of primary amenorrhea?
Stress
Nutritional factors
Symptoms of hypo estrogen
What is important of physical exam for evaluation of primary amenorrhea?
Determine if there is a normal vagina and cervix.
If there is a short or blind vagina on physical exam in evaluation of primary amenorrhea what should you think of?
- Mullerian agenesis
- Androgen insensitivity
- Total testosterone an karyotype
- Vaginal agenesis/atresia
- Vaginal septum
- Cervical atresia
If there is a normal vagina and cervix on physical exam in evaluation of primary amenorrhea what should you do?
Lab workup
1. TSH/Prolactin
2. FSH and estradiol
3. Progesterone withdrawal challenge
What are the concepts of progesterone withdrawal challenge?
Helps to determine if the issue is progesterone from anovulation or estrogen deficiency or uterine outflow obstruction.
Patient is given a 10 day course of progesterone
If positive bleed and normal labs= anovulation
If no bleed and normal labs= Go to E+P challenge
What is an estrogen + progesterone challenge?
Patient did not have a withdrawal bleed from progesterone challenge
Give conjugated estrogen 1.25mg x 14 days then estrogen + progesterone x 10 days
If positive bleed= not making enough estrogen
If negative bleed= abnormal outflow tract (Asherman, anomaly)
What are normal levels for FSH/LH?
FSH= 5-30
LH= 5-20
What are high FSH/LH levels?
FSH= >30
LH=>20
What are low FSH/LH levels?
FSH=<5
LH=<5
What does a high FSH/LH level correspond to?
Primary ovarian insufficiency
What does a low FSH/LH level correspond to?
Hypothalamic/pituitary issues
What is considered a low estradiol level?
<50pg/ml
How do you diagnose primary ovarian insufficiency?
- Two random tests at least one month apart of FSH/LH and estradiol levels,
- Negative pregnancy test
- Normal prolactin and thyroid test
What is primary ovarian insufficiency?
Cessation of menses by age 40
What are the mullerian ducts?
Embryonic structures that develop into the female genital tract
Uterus, vagina, Fallopian tubes
What is mullerian agenesis?
Failure of development of the uterus, Fallopian tubes or vagina
Can have a partial or absent vagina
Can have a partial or absent uterus
Can have absent Fallopian tubes
What is another name for mullerian agenesis?
Mayer-Rokitansky-Kuster Hauser syndrome
What is androgen insensitivity syndrome?
Genetic male (XY) who is resistent to male hormones and therefore is genetic male but phenotypically female
What causes androgen insensitivity syndrome?
Defects on the X chromosome making it unable to respond to male hormone androgens
What do you have to worry about with androgen insensitivity syndrome?
Testicles need to be removed after puberty take place because of increase risk of cancer
What is 17,20 desmolase deficiency?
Genetic disorder that causes lack of production of estrogens and androgens leading to genetically male with male testes but female external genitalia or genetically female with ovaries and external male genitalia
What is 17 hydroxylase syndrome?
Genetic condition that causes decreased production of cortisol and sex steroids and increased production of mineralcorticoids
How does 17 hydroxylase syndrome present ?
Ambiguous genitalia in men
Nonfunctional ovaries in females
Hypokalemic hypertension
Low cortisol
