Term
| What is the definition of primary amenorrhea? |
|
Definition
| Absence of menses by age 13y in the absence of secondary sexual development, or by age 15y in the presence of secondary sexual development. |
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|
Term
| Which area of the hypothalamus secretes GnRH and at what rate? |
|
Definition
| The arcuate nucleus releases pulses of GnRH into the hypophyseal portal system approximately every hour. |
|
|
Term
| Define the female athlete triad |
|
Definition
| Amenorrhea, eating disorder, osteopenia |
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|
Term
| What is the inheritance pattern of congenital GnRH deficiency? |
|
Definition
>60% of cases are sporadic
Other cases may be autosomal dominant or X-linked recessive |
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Term
| Name 3 causes of acquired pituitary dysfunction resulting in amenorrhea. |
|
Definition
1. Sheehan's syndrome
2. Iatrogenic - surgery, irradiation
3. Hemosiderosis - e.g. due to thalassemia major |
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|
Term
| What four groups of psychiatric medications may cause hyperprolactinemia? |
|
Definition
SSRI
MAO-I
TCA (tricyclic antidepressants)
Anti-psychotics |
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|
Term
| What is the most common cause of primary amenorrhea? |
|
Definition
| Gonadal dysgenesis: Swyer's syndrome (46,XY), Turner's syndrome (45,X0) or Turner variants. |
|
|
Term
| What is Savage's syndrome? |
|
Definition
| Ovarian resistance syndrome - elevated LH & FSH, and the ovaries contain primordial germ cells. Persumed cause is a defect in cell receptor mechanisms. |
|
|
Term
| What is the definition of premature ovarian failure (POF)? |
|
Definition
|
|
Term
| What is the phenotypic difference between androgen insensitivity syndrome and Swyer's syndrome (pure gonadal dysgenesis)? |
|
Definition
| Patients with androgen insensitivity syndrome will develop breasts, whereas Swyer's syndrome patients will not. |
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|
Term
| What is the work-up of a patient with primary amenorrhea with secondary sexual characteristics and a uterus? |
|
Definition
| Evaluate possible outflow obstuction; if negative - evaluate as per secondary amenorrhea. |
|
|
Term
| What is the work-up of a patient with primary amenorrhea with secondary sexual characteristics and without a uterus? |
|
Definition
| Karyotype analysis to differentiate between 46,XY (androgen insensitivity) and 46,XX (Müllerian agenesis) |
|
|
Term
| What is the work-up of a patient with primary amenorrhea without secondary sexual characteristics? |
|
Definition
| Measure FSH/LH to differentiate between hyper- and hypo-gonadotrophic hypogonadism. |
|
|
Term
| What is the workup for the patient with primary amenorrhea and hypogonadotrophic hypogonadism? |
|
Definition
Karyotype analysis to differentiate between:
46,XY - Swyer's syndrome
46,XX - Premature ovarian failure
46,X0 - Turner's syndrome |
|
|
Term
| What genetic anomaly is associated with premature ovarian failure? |
|
Definition
| Fragile X syndrome - 10-20% of patients will develop POF |
|
|
Term
| What is the differential diagnosis of a hirsute patient with amenorrhea who bleeds in response to a progestin challenge? |
|
Definition
PCOS
Hyperthecosis
Mild adult-onset congenital adrenal hyperplasia |
|
|
Term
| What is the mechanism of amenorrhea in a patient that does not respond to estrogen + progesterone challenge? |
|
Definition
|
|
Term
| What is the next step in evaluating a patient with secondary amenorrhea that bleeds in response to a estrogen + progesterone challenge? |
|
Definition
| FSH & LH levels to differentiate between: ovarian failure (high levels), and hypogonadotrophic hypogonadism. |
|
|
Term
| What percentage of patients will menstruate normally after surgical removal of a pituitary macroadenoma? |
|
Definition
|
|
Term
| What is the one cause of primary ovarian failure (POF) that may respond to therapy? |
|
Definition
| Autoimmune oophoritis may respond to steroid therapy. |
|
|
Term
| What is the first-line treatment of patients with hypoestrogenic hypothalamic amenorrhea (progestin-challenge negative)? |
|
Definition
| Injections of exogenous gonadotropins |
|
|
Term
| What is the first-line treatment of patients who bleed in response to progestin challenge? |
|
Definition
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