E1: Menstrual Disorders Flashcards
What is the average age of menarche?
Average age of menopause?
Menarche: 12-13
Menopause: 51
What are the 3 things that regular and spontaneous menstruation requires?
1) a functional hypothalamic-pituitary-ovarian axis
2) an endometrium competent to response to steroid hormone stimulation
3) an intact outflow tract from internal to external genitalia
What is primary amenorrhea?
Failure to reach menarche
-absence of messes by age 15 with normal growth and secondary sexual characteristics OR absence of menses by age 13 without secondary sexual characteristics
What is secondary amenorrhea?
- Cessation of menses
- absence of menses for more than 3 cycle intervals or 6 consecutive months in women who were previously menstruating
What are the etiologies of primary amenorrhea and which is most common?
- Ovarian dysfunction (gonadal dysgenesis and PCOS) is MOST COMMON
- Disruption of hypothalamic or pituitary function
- anatomic defects in outflow tract
- receptor abnormality or enzyme deficiency
What are the two conditions that gonadal dysgenesis can cause that are associated with primary amenorrhea?
- Turner syndrome
- 46 XY gonadal dysgenesis
What happens in Turner syndrome?
- 46, XO
- ovaries are unable to response to gonadotropins
- results in premature depletion of oocytes and follicles
Patient presents with have a short stature, shield chest, and widely spaced nipples. Patient also has streaked ovaries and sexual infantilism. What condition do they most likely have?
Turner syndrome
What happens in 46, XY gonadal dysgenesis?
- Mutation of the SRY gene
- fibrous streak gonad cannot secrete AMH or testosterone, resulting in indifferent gonads failing to differentiate into testes
- Lack of AMH, testosterone, and DHT results in female internal and external genitalia
What is PCOS?
- Ovulatary dysfunction resulting in anovulation (rarely a cause of primary amenorrhea)
- androgen excess
- symptoms of hyperandrogenism
- String of pearls appearance on US
What is functional hypothalamic amenorrhea?
- primary amenorrhea from the HPO axis being suppressed due to an a energy deficit stemming from stress, weight loos, excessive exercise or disordered eating (female athlete triad)
- leads to abnormal GnRH secretion, absent follicular development and ovulation, and low estradiol secretion
- FSH levels are often normal, with low LH
What is the female athlete triad?
Insufficient calorie intake with or without eating disorder, amenorrhea, and low bone density/osteoporosis
What is idiopathic hypogonadotropic hypogonadism?
- Congenital GnRH deficiency, Kallmann syndrome if anosmia is present
- cause of primary amenorrhea
What are the two pituitary causes of primary amenorrhea?
- Micro/macroadenomas (cushings, prolactinoma, etc)
- Hyperprolactinemia (though more commonly causes secondary amenorrhea)
What are the outflow tract disorders that can cause primary amenorrhea?
- Mullerian agenesis
- imperforate hymen or transverse vaginal septum
**these are common causes of primary amenorrhea
What is mullerian agenesis?
- 46 XX with congenital absence of the oviducts, uterus, and upper vagina
- normal gonadal function (estrogen= breast development)
What are the symptoms associated with imperforate hymen and transverse vaginal septum?
Cyclic pelvic pain and perirectal mass from sequestration of blood in the vagina
What are the receptor/enzyme abnormalities than can result in primary amenorrhea?
- Androgen insensitivity syndrome
- 5-alpha-reductase deficiency
- 17-alpha-hydroxylase deficiency
What is Androgen Insensitivity syndrome (AIS)?
- 46 XY with female phenotype and high serum testosterone
- Testes make testosterone and AMH but the body is not response to testosterone or DHT due to complete or partial androgen receptor insensitivity
What is the clinical presentation of AIS?
- Presents with breast development, absence of acne/voice changes at puberty, absent/sparse axillary and pubic hair
- Absent upper vagina, uterus, and Fallopian tubes on pelvic US
- testes remain intra-abdominal or partially descended and should be removed due to increased risk of testicular cancer
What is 5-alpha-reductase deficiency?
- 46 XY unable to convert testosterone to DHT, resulting in no differentiation of male genitalia during fetal development and ambitious genitalia at birth
- Undergoes virtualization at puberty, but no enlargement of external genitalia or prostate
What is is 17-alpha-hydroxylase deficiency?
- decreased cortisol synthesis and lack of sex steroids
- high ACTH leads to overproduction of aldosterone
- Results in a phenotypic female or male with HTN and lack of pubertal development
What conditions that cause primary amenorrhea have high FSG?
Hypergonadotropic Hypogonadism (turner, 46 XY gonadal dysgenesis, and primary ovarian insuffiency
What are the possible etiologies of secondary amenorrhea and what is the most common?
- Pregnancy is MOST COMMON
- ovarian dysfunction
- hypothalamic dysfunction
- pituitary dysfunction
- uterine dysfunction
What are the three types of ovarian dysfunction that cause secondary amenorrhea?
PCOS, primary ovarian insufficiency, and hyperandrogenism
What is primary ovarian insufficiency and what causes it?
- Depletion of oocytes before age 40, resulting in clinical menopause
- caused by Turner syndrome, FMR1 gene mutation (Fragile X), autoimmune ovarian destruction, radiation, or chemo