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2022 REI Written Boards > Amenorrhea > Flashcards

Amenorrhea Flashcards

1
Q

What are the 3 most common causes of amenorrhea?

A

1) Hyper-hypo (gonadal dysgenesis)
2) Mullerian Agenesis
3) Congenital AIS

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2
Q

Etiology of MRKH

A

Activating (gain of fxn) mutation in AMH or AMH-R; association with GALT mutation?

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3
Q

Presentation of MRKH

A

Normal therlarche and pubarche
Short vagina without symptoms of obstructed menses
Some with skeletal and urologic abnormalities

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4
Q

What percentage of MRKH women have concomitant urologic abnormalities?

A

15-40%

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5
Q

Imaging of choice for MRKH eval

A

MRI

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6
Q

Treatment for MRKH

A

Creation of fxnl vagina (dilators, McIndoe, Vecchieti); gestational carrier

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7
Q

Anatomy of congenital defect in urogenital sinus development

A

Agenesis of lower vagina
Imperforate hymen

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8
Q

2 etiologies of intrauterine adhesions

A

Asherman syndrome
TB endometritis

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9
Q

3 categories of anatomic abnormalities leading to amenorrhea

A

Congenital abnormalities of Mullerian development (MRKH, AIS, 5-alpha reductase def)
Congenital defect in urogenital sinus development
Intrauterine adhesions

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10
Q

3 categories of disorders of HPO axis leading to amenorrhea

A

Hypothalamic dysfunction
Pituitary dysfunction
Ovarian dysfunction

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11
Q

Pathophysiology of Kallman’s syndrome

A

Failure of olfactory and GnRH neuronal migration from olfactory placode

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12
Q

Genetics of Kallman’s syndrome

A

X-linked (most common): Anosmin 1 – males only!
 Encoded by KAL1 gene on X chromosome (short arm)
 Part of fibronectin family, responsible for cell adhesion and protease inhibition
Autosomal:
 Fibroblast growth factor receptor (FGF-1 R/KAL2) – autosomal dominant;
female with amenorrhea/anosmia
 Prokinecticin (PROK2) – autosomal recessive; can be normosmic or anosmic

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13
Q

Mechanism of anovulation in anorexia

A

CRH-mediated opioid suppression of GnRH

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14
Q

Metabolic abnormalities with anorexia

A
  • Decreased: FSH, LH, E2, IGF-1, leptin, T3
  • Increased: cortisol, reverse T3, ghrelin, GH, NPY
  • Normal: PRL, TSH, T4
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15
Q

3 main categories of hypothalamic dysfunction

A

Isolated GnRH deficiency (Kallman’s)
Functional hypothalamic amenorrhea (ie eating d/o, stress, excessive exercise)
Brain tumors, cranial radiation, TBI

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16
Q

% of non-functional pituitary tumors that derive from gonadotrophs

A

80-90%

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17
Q

Pathophys of how gonadotroph tumors affect HPO axis

A

Stalk compression

  • Interrupt GnRH
  • Block dopamine –> increase prolactin
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18
Q

LH, FSH, TSH, HCG structure

A

Common alpha subunit, different beta subunit

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19
Q

Messenger system for GnRH stimulation of LH and FSH production

A

G protein second messenger, calcium dependent system

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20
Q

Rate limited step in synthesis of LH and FSH

A

Synthesis of beta subunits of each gonadotropin (prior question: alpha subunits common and secreted with non-functional tumors)

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21
Q

Clinical presentation of gonadotropin adenomas

A

 Markedly supranormal FSH level associated with a subnormal LH concentration
 A serum free alpha subunit concentration that is supranormal when intact FSH and LH are not
 Markedly elevated serum estradiol concentration and an FSH concentration that is not suppressed, associated with endometrial hyperplasia and polycystic ovaries (a la OHSS); even a “normal” FSH is not appropriate when the estradiol is markedly elevated and the LH suppressed.

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22
Q

Ddx of pituitary dysfunction leading to amenorrhea (4)

A

Hyperprolactinemia
Pituitary tumors
Empty sella syndrome
Pituitary infarct of apoplexy

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23
Q

Most common chromosomal abnormality in gonadal dysgenesis

A

Turner syndrome

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24
Q

Most frequent abnormal karyotype in SABs

A

45X

25
Q

Genetics of Turner Syndrome

A

 Deletion in SHOX (short stature homeobox-containing gene located on the psuedoautosomal region (PAR) at the distal end of Xp -> haploinsufficiency of SHOX
 Other genes located on Xp (mental retardation, X-linked Icythosis, Kallman’s syndrome

26
Q

Mosaic Turner syndrome presentation

A

Visible (non-streak) ovaries + spontaneous breast development/uterine growth

27
Q

Autoimmune disorders seen with Turner syndrome

A

Thyroiditis (hypothyroidism), type 1 DM, autoimmune hepatitis

28
Q

Fragile X mutation

A

FMR1 (Fragile X Mental Retardation -1) gene = (terminal end) of long arm of X chromosome

29
Q

% sporadic and familial POF with Fragile X

A

1-7% sporadic
14% familial

30
Q

Amino acid repeat sequence in fragile X

A

CGG

31
Q

Repeats for normal, premutation, and fragile X

A

Normal = 30
Premutation = 55-200
Fragile X Syndrome = >200

32
Q

Most common genetic cause of mental retardation and autism

A

Fragile X

33
Q

Pathophysiology of Fragile X

A

 trinucleotide repeat expansion
 hypermethylation of gene
 gene silencing
 no production of FMR protein (a translational inhibitor)
 overproduction of mRNAs

34
Q

Two syndromes in Fragile X

A

Fragile X-associated tremor/ataxia syndrome
Premature ovarian insufficiency

35
Q

Fragile X-associated tremor/ataxia syndrome: persons affected

A

Primarily male pre-mutation carriers, usually after age 50

36
Q

Fragile X-associated tremor/ataxia syndrome phenotype

A

Intention tremor, ataxia, autonomic dysfunction, cognitive deficits, behavioral abnormalities, peripheral neuropathy

37
Q

Galactosemia genetics

A

Very rare; autosomal recessive deficiency of galactose 1-phosphate uridyl transferase

38
Q

Galactosemia fertility finding

A

Low AMH, POI

39
Q

POI Ddx (7)

A

Gonadal dysgenesis, Fragile X, Turner’s, galactosemia, chemotherapy/raditation, autiommune, receptor abnormalities/enzyme deficiencies, idiopathic

40
Q

+anti-thyroid (TPO) antibodies

A

Hashimonto’s

41
Q

% women with POI with Hashimoto’s

A

14-27%

42
Q

name of condition: +anti-adrenal (21-OH) antibodies

A

Auto-Immune oophoritis

43
Q

% women with POI with auto-immune oophoritis

A

2-10%

44
Q

Eval for adrenal insufficiency in setting of POI

A

Check for 21-OH antibodies
→ If positive, AM cortisol level
→ high: (>18) excludes adrenal insufficiency; low AM cortisol → ACTH stim test
• 0.25 mg cosyntropin → check cortisol level before and 1 hour after
• stimulated cortisol level > 18 ug/dL is a normal response

45
Q

Genetics of 17-alpha hydroxylase deficiency

A

Deficiency of the product of the CYP17 gene, which is an enzyme that has both 17-hydroxylase and 17,20-lyase activities
 Can occur in 46,XX or 46,XY patients

46
Q

17-alpha hydroxylase deficiency: cortisol, ACTH, corticosterone, and deoxycorticosterone levels

A

Cortisol decreased
ACTH, corticosterone, deoxycorticosterone overproduced

47
Q

17-alpha hydroxylase deficiency: adrenal and gonadal sex steroids

A

Not produced

48
Q

17-alpha hydroxylase deficiency phenotype

A

Phenotypic females with hypertension (due to mineralocorticoid excess), lack of pubertal development, and either female (if 46,XX) or incompletely developed (if 46,XY) external genitalia

49
Q

What is BMP15?

A

Oocyte specific growth factor that stimulates (+) folliculogenesis and granulosa cell proliferation (TGF-B superfamily)

50
Q

BMP15 mutation inheritance?

A

Heterozygous (on X-chromosome)

51
Q

BMP15 mutation implications for fertility

A

Identified in a small number of women with idiopathic POI

52
Q

What is FOXL-1/2?

A

Forkhead box transcription factor = required for normal granulosa cell function

53
Q

FOXL-1/2 mutation inheritance?

A

Autosomal dominant

54
Q

What does FOXL-1/2 mutation cause?

A

Blelpharophimosis/ptosis/epicanthus inversus syndrome (BPES)

55
Q

Name 3 steroidogenic enzyme defects that cause amenorrhea/POI

A

 StAR enzyme (congenital lipoid adrenal hyperplasia)
 CYP 17A1 (17 hydroxylase) mutation
 CYP 19A1 (aromatase)

56
Q

Diagnosis of inactivating FSH or LH B subunit mutation?

A

Normal level of one gonadotropin/undetectable level of other gonadotropin

57
Q

Ddx receptor abnormalities and enzyme deficiencies leading to POI (8)

A
  1. 17-alpha hydroxylase def
  2. P450 oxidoreductase (POR) deficiency
  3. Estrogen resistance
  4. BMP15 mutations
  5. FOXL-1/FOXL-2 mutation
  6. Steroidogeneic enzyme defects
  7. Inactivating FSH or LH B subunit mutation
  8. FSH receptor or LH receptor mutations
58
Q

PCOS, hyper/hypo-thyroidism, uncontrolled DM, and exogenous androgen use can all lead to what fertility outcome?

A

POI

2022 REI Written Boards (21 decks)

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