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Endocrine > Puberty-Infertility > Flashcards

Flashcards in Puberty-Infertility Deck (32)
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1
Q

What is the most common cause of infertility in males?

A

Varicocele - “bag of worms”

– Too much blood in the scrotum causing the newly created sperm to become nonfunctional.

2
Q

What is the first step in evaluating infertility in males?

A

– Thorough History –

Then Seman Analysis

3
Q

How should you read a semen analysis report?

A
  • -Concentration should be 20mil/mL+

- -Motility needs to be 50%+

4
Q

After intervening in fertility, how long until the changes take effect?

A

Approximately 90 days

  • -70 days for development
  • -20 days for traveling through the spermatocord
5
Q

If there is a central pathology causing abnomrally low levels of LH, what might be the physiologic effect be?

A

– Low Testosterone

LH binds to Leytig Cells inducing steroidogenesis

6
Q

If upon physical exam there seems to be a missing vas deferens, what might also be present?

A
  • -Cystic Fibrosis Gene copy

- -5T-Allele

7
Q

Do patients with CF still produce sperm normally?

A

– Spermatogenesis is not affected, but they do not produce as much fluid

8
Q

If the patient is missing a vas deferens, but tested negative for any CF gene copies, what else might be going on?

A
  • Renal Agenesis
    Check for a missing kidney using Ultrasound!
    -Can be completely asymptomatic before discovering they are infertile.
9
Q

What are the two causes of premature puberty?

A

Gonadotropin-Dependent Prematurity
–unknown cause of early maturity of hypothalamic gonadal-axis
Gonadotropin-Independent Prematurity
–Excessive secretion of sex hormones from somewhere int he body

10
Q

What are common associations with Gonadotropin-Dependent Prematurity?

A
  • -Females
    • Can be CNS tumor secreting gonadotropin or abnormality affecting the pituitary gland.
    • Hydrocephalus, Trauma, CNS inflammation, etc
  • -Hamartoma
11
Q

What are the gene associations with GDPP?

A

Upregulation of:

  • -Kisspeptin-1
  • -KISS-IR
12
Q

If you are seeing a 6 year old female in the office and suspect she is undergoing premature puberty and you initially test her LH levels resulting in a borderline elevated level, if you give GnRH and it elevates LH levels, what is her diagnosis?

A

GDPP – this is because the hypothalamic-pituitary steroidal axis has been activated and is elevating LH levels.

13
Q

If you are seeing a 6 year old female in the office and suspect she is undergoing premature puberty and you initially test her LH levels resulting in a borderline elevated level, if you give GnRH and it has no effect on LH levels, what is her diagnosis?

A

GIPP – this is because the sex hormones are being secreted from somewhere else in the body independent of LH levels.

14
Q

If you are seeing a 6 year old female of suspected early onset puberty and notice she has a several centimeter cafe au lait spot on her chest, what might be your concerns?

A
McCune Albright Syndrome
Triad includes:
- Premature Puberty
- Cafe au Lait spots
- Fibrous Dysplasia of Bone
15
Q

How is GIPP different from incomplete premature puberty?

A

Incomplete Premature Puberty, is isolated to only male sexual characteristics.
GIPP - is full blown puberty

16
Q

What are the most important exams to perform when evaluating for premature puberty?

A
    • Fundoscopic – to look for CNS abnormals (hydrocephalus or tumor increasing pressure)
    • Visual Field – optic nerve interruption
    • Dermatologic – cafe au lait
    • Tanner Staging/Bone Age
17
Q

What is the overarching cause of GIPP?

A
    • over expression of sex hormones from gonads, andrenal, or ectopic production of gonadotropin
    • inducing pre-mature puberty
18
Q

What can be a common cause of both male and female premature puberty?

A

Leydig/Theca Cell tumors
– secrete hormones without LH stimulation
hCG secreting germ cell tumors (anywhere located)

19
Q

What are the common adrenal pathologies associated with GIPP?

A
    • 11 Beta-hydroxylase deficiency
    • 3 Beta-hydroxysteroid dehydrogenase
    • Hexose 6 phosphate dehydrogenase
    • PAPss2 Deficiency
  • *Glomerulusa Reticularis Adenoma
20
Q

How can you confirm a diagnosis of gonadotrophin dependent premature puberty?

A
    • Look for elevated FSH / LH

- - If you give GnRH, then will elevate LH

21
Q

How is the testing and plan of treatment for GIPP different from GDPP?

A

You are testing to see if the hypothalamus is the cause, if not then you are looking for the source in the body somewhere of the steroid hormone production.

22
Q

If GDPP is confirmed with elevated LH levels, then what do you do next?

A
    • You need to figure out if the other pituitary hormones are imbalanced as well. Test for TSH, Estrogen, T4
    • Pituitary MRI to look for tumor causing it
23
Q

How do you treat GDPP after diagnosis has been confirmed and there is no tumor?

A

Goal is to have patient is normal height in adulthood

  • -Antagonize GnRH = Leuprilide (downregulates receptors)
  • -Treat patient until they are appropriate to resume puberty, which occurs 17 months after stopping treatment
    • Give dose of Leuprolide every 3 months, adjust dose if puberty is not being suppressed.
24
Q

Once a diagnosis of GIPP has been confirmed what are the next steps to be taken?

A
    • Locate the primary cause of the symptoms
    • Aromatase Inhibitors
    • Spironolactone
    • Ketoconazole (inhibits androgen synthesis, hepatotoxicity though)
25
Q

Upon diagnosing a patient with premature puberty their LH/FSH are suppressed, but their testosterone is elevated. What other tests might you perform to help narrow your diagnosis?

A
    • Test for Cortisol levels
    • hCG levels
    • DHEA/DHEAS , 17hydroxyprogesterone
26
Q

If you diagnose a patient with GIPP due to low LH levels, then discover they have elevated hCG, what might you be suspicious of?

A
    • Can be Choriocarcinoma, check the mediastinum region, if that is location — Karotype the patient
    • Could be Klinefelter’s (XXY)
27
Q

What is the most common cause of delayed onset puberty?

A

– inadequate steroid secretion due to low LH/FSH or GnRH

28
Q

If you are seeing a 15 year old male who has not undergone any puberty changes and you test his LH/FSH and its HIGH, what might be the next step?

A

Karotype

    • if chromosomal abnormalities - XXY/ XX-male / XO
    • if Normal 46 XY, then something more primary like adrenal insufficiency or testis dysfunction
  • *The body is trying to make more steroids, but is unable to for some reason or another**
29
Q

If you are seeing a 15 year old male who has not undergone any puberty changes and you test his LH/FSH and its Low along with low testosterone, what might be the next step?

A

If LH/FSH is low, Family History (watchful waiting?)

  • -Could be Chronic Illness / Anorexia preventing the body from turning on puberty until its ready
    • Elite Atheletes
    • Enzyme deficiency?
30
Q

If you are evaluating a 16 year old patient who has not undergone puberty. Testing indicates normal levels of FSH/LH, but low testosterone levels, what is the next step?

A

– MRI Head
With low testerosterone, FSH/LH should NOT be normal or Low at that. (inappropriately normal)
There is likely a central process occurring that is preventing increased secretion of FSH/LH

31
Q

A patient is known to have a 5-alpha reductase deficiency, what might be the clinical presentation of the patient?

A

– ambiguous or small genitalia for a male
due to being unable to produce DHT, but at puberty there will be an increase in size of the genitalia since testosterone is increased more

32
Q

If a male is diagnosed with a prolactinoma, what might be some sexual side effects experienced by the patient?

A

–Prolactin suppresses LH/FSH secretion, so the patient would be lowered testosterone and sexual dysfunction