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104 Cards in this Set

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What is another term for pretesticular causes of abnormal spermatogenesis?
Endocrine Causes.
From Hormone deficiency, hormone excess, or receptor abnormality.
Male infertility: Lab values for pituitary dysfunction
Testosterone: low or low normal
FSH/LH: low
**** Innappropriately normal LH value associated w/ very low serum testosterone is suggestive of pituitary dysfunction
** This is situation of hormone deficiency
Describe signs/symptoms of prepubertal onset of pituitary disease in males
-growth retardation
-delayed puberty
-adrenal and/or thyroid deficiency
- adrenarche: small amt., straight pubic hair (if adrenal axis intact).
-testes= small/soft
Describe signs/symptoms of postpubertal (adult) onset of pituitary disease in males
-Sx of H deficiency/excess
-mass effects (headache, visual)
-sx of underlying process (infection/infiltrative dz).
-NORMAL secondary sex characteristics
-testes small and firm (from fibrosis)
Name two congenital syndromes of hypogonadotropic hypogonadism.
1. Kallman Syndrome
2. Prader-Willi
Describe the mechanism of Kallmann Syndrome
-Failure of hypothalamic GnRH secretion=> secondary testicular failure
What are the genetics of Kallmann syndrome?
heterogenous (x-linked, auto-dom, auto-rec).
Most common= X-linked for KAL1 gene that encodes neuron adhesion molecule for migration of neurons that secrete GnRH to the medial basal hypothalamus
What are signs/symptoms of Kallmann syndrome?
-Anosmia (complete/partial lack of smell)
-Cryptorchidism
-Gynecomastia
-Micropenis
-Small testes

-craniofacial asymmetry, cleft lip/palate, color blindness, congenital deafness, renal anomalies.
-long arms/legs for height
What is the classic presentation of Kallmann syndrome?
Delayed puberty.
- Also long arms/legs for height b/c delwayed androgen-dependent epiphyseal closure
Name two congenital syndromes of hypogonadotropic hypogonadism.
1. Kallman Syndrome
2. Prader-Willi
Describe the mechanism of Kallmann Syndrome
-Failure of hypothalamic GnRH secretion=> secondary testicular failure
What are the genetics of Kallmann syndrome?
heterogenous (x-linked, auto-dom, auto-rec).
Most common= X-linked for KAL1 gene that encodes neuron adhesion molecule for migration of neurons that secrete GnRH to the medial basal hypothalamus
What are signs/symptoms of Kallmann syndrome?
-Anosmia (complete/partial lack of smell)
-Cryptorchidism
-Gynecomastia
-Micropenis
-Small testes

-craniofacial asymmetry, cleft lip/palate, color blindness, congenital deafness, renal anomalies.
-long arms/legs for height
What is the classic presentation of Kallmann syndrome?
Delayed puberty.
- Also long arms/legs for height b/c delwayed androgen-dependent epiphyseal closure
What are the signs/symptoms of Prader Willi Syndrome?
Obesity/hyperphagia, hypotonic musculature, mental retardation, short stature, hypogonadism.
What are the genetics for Prader Willi Syndrome?
Genetic Imprinting:
Sporadic deletion of 15q11-q13 on chromosome 15 inherited from FATHER.
What is the mechanism for Prader Willi Syndrome?
Lack of GnRH giving LH and FSH deficiencies.
Why is infertility not a problem in Prader-Willi Syndrome?
B/c so many other anomalies and cognitive impairment.
What syndrome is associated w/ anosmia?
Kallmann syndrome
Compare intra testicular testosterone levels to serum testosterone levels. What causes the discrepancy?
Intra testicular is 100 fold higher b/c local production
How does exogenous testosterone affect spermatogenesis?
Impairs spermatogenesis by lowering FSH and inhibits Leydig cell function by lowering LH----- This is via negative feedback on GnRH, and LH
Name two mechanisms for androgen excess
exogenous sources (anabolic steroid use) or endogenous production (androgen producing tumor)
What is the most common cause of endogenous androgen excess in males?
CAH (21-OHase deficiency)
All forms of CAH are associated with what?
Excess ADRENAL androgen production and then LOW TESTICULAR testosterone production.
What enzyme is elevated in 21-OHase deficiency?
17hydroxyprogesterone
What will male newborns born with 21OHase deficiency present with? females?
males: adrenal crisis
females: ambigous genitalia (virilized in utero from adrenal androgens)
What is the treatment for 21 OHase deficeincy?
Glucocorticoid treatment to reduce ACTH and decrease adrenal androgen production...
then GnRH will increase, and testicular steroidogenesis can occur.
Name the signs and symptoms of an adrenal or testicular tumor that produces androgens:
Prepubertally: No testicular development (but will have 2ndary sex char.).
Neg. feedback to GnRH so testicular hypofunction.
Postpubertal: can get tubular/peritubular sclerosis (may be irreversible).
How does estrogen excess lead to male infertility?
Peripheral estrogens suppress GnRH. Excess estrogen can give hypogonatotropic hypogonadism.
What are causes of estrogen excess that lead to male infertility?
-Estrogen secreting tumors (Adrenal cortex, sertoli cells or leydig cells)
- Hepatic dysfunction
-Obesity!
How does obesity lead to male infertility?
Obesity can cause increased aromatasation of androgens to estrogens which will negatively inhibit GnRH secretion. (Aromatase is found in peripheral adipose tissue).
What are the signs/symptoms of estrogen excess in a male?
erectile dysfunction, gynecomastia, testicular atrophy.
What are the lab values of a male patient with estrogen excess?
Low FSH, LH, and testosterone. High estrogen.
What is the treatment of estrogen excess in a male with infertility?
Treat the underlying disease process.
What is associated with hyperprolactinemia in males?
Erectile dysfunction and male infertility.
What should be ruled out with hyperprolactinemia?
Hypothyroid--- TRH stimulates prolactin and TSH in equal amounts.
What is the recommended next step for patients with hyperprolactinemia?
Imaging of the pituitary... after hypothyroidism has been ruled out.
How does glucocorticoid excess lead to male infertility?
Excess glucocorticoids may suppress LH secretion.
** This is important for cushings syndrome, but not for pts receiving steroid therapy***
Name the three general classes of abnormalities of androgen action
Abnormality of androgen synthesis, conversion, or receptor
Explain the conversion of testosterone
Testosterone is converted to dihyrotestosterone by 5alpha reductase.
Deficiency in testosterone synthesis or conversion will result in_______.
Ambiguous genitalia.
Describe the genetics of Androgen Insensitivity Syndrome
X-linked recessive
What is the phenotype of pts with androgen insensitivity syndrome?
Variable. phenotypically female to male.
What are the lab values of patients with androgen insensitivity syndrome?
High LH and Testosterone.
FSH is normal or high.
What is the mechanism of androgen insensitivity syndrome?
mutations in the androgen receptor gene which mediates the effects of testosterone and dihydrotestosterone.
Describe the phenotype of a pt with COMPLETE androgen insensitivity syndrome
46XY, phenotypically female, but no mullerian or paramesonephric duct derived structures... Usually present with primary amenorrhea.
Describe the phenotype of a pt with MILD androgen insensitivity syndrome
46XY, pheno male, azoospermia/severe oligospermia.
What is the karyotype of Klinefelter Syndrome?
47, XXY
What is the classic description of Klinefelter's syndrome?
small firm testes, gynecomastia, elevated LH/FSH.
What is the prevalence of testicular atrophy and gynecomastia in patients with klinefelter's syndrome?
Almost all= testicular trophy.
gynecomastia in less than half.
What other signs and symptoms are present in pts with klinefelter's syndrome?
mental retardation and various psychiatric disturbances.
T/F: Pts with klinefelter's may have normal testosteron levels
True, although they'll likely have elevated LH/FSH.
When do pts with Klinefelter's syndrome develop secondary sexual characteristics?
At a normal/appropriate time
Describe puberty in pts with Klinefelter's
Starts normally, but completion is often delayed...
eunuchism, gynecomastia, or sexual dysfunction may prompt the dx.
Infertility may prompt dx if complete virilization occurs
Describe the sperm/testicles of pts with klinefelter's syndrome
Azoospermia.
Seminiferous tubular sclerosis
(may have occassional tubules w/ sertoli cells and sperm).
small, firm testes.
Describe the endocrine findings in Klinefelter's
MARKEDLY ELEVATED FSH from seminiferous tubular injury.
LH elevated or normal
Testosterone usually decreased
Estradiol usually increased
SHBG increased (stim. by estradiol); thus decreased estrogen to testosteron ratio
What is responsible for the gynecomastia seen in Klinefelter syndrome pts?
Increased estrogen to testosterone ratio
How is Klinefelter's syndrome diagnosed?
Barr body analysis= quick, reliable screening.
Chromosome analysis confirms dx. (47XXY OR less common mosiac 46XY/47XXY.... note: rarely 48, XXXY can occur!)
What is the fertility treatment of Klinefelter's syndrome pts?
No therapy to improve spermatogenesis.
Some can have IVF with ICSI if have some sperm in ejaculate.
Or can do TESE (testicular sperm extraction) and then IVF/ICSI.
Describe the chromosomes of the SPERM of pts with Klinefelter's syndrome. What is the imprication of this?
Most are normal! They can do IVF and not worry about passing it on.
Describe XYY syndrome signs/symptoms
Tall pts.
Severe oligospermia or azoospermia.
aggressive/criminal behavior.
-lower intellegence (?)
Describe the fertility/treatment of XYY syndrome pts
Most=infertile.
no Tx to improve spermatogenesis, but can do IVF/ICSI.
What should always be done before beginning IVF/ICSI?
Genetic counseling.
Describe Noonan syndrome signs/symptoms
Similar to that of Turner syndrome:
short stature.
hypertelorism (distance between eyes)
webbed neck
low-set ears
cubitus valgus (elbows turned in)
ptosis (droopy eyelids)
cardiovasc abnormalities
learning disabilities/mild mental retardation
cryptorchidism and testicular atrophy.

elevated gonadotropins.
(low test/sperm)
What is the treatment for Noonan syndrome?
Give androgens to complete virilization, but no treatment for the fertility abnormality.
Describe Y Chromosome microdeletions:
1.What do they lead to?
2.Where do they occur?
3.How are they inherited?
4.What is the phenotype?
5.What is the treatment?
1. azoospermia or severe oligospermia
2. In nonoverlapping regions of long arm of Y chromosome; either AZFa (proximal), AZFb AZFc (distal) (will be in one of three of these). AZFc is most common in men with azoospermia and severely oligospermic.
3. NOT inherited; occur de novo (rare vertical trans)
4. Phenotype: normal- but bad spermatogenesis
5. TESE/IVF/etc. But it WILL be transmitted.
When should karyotypic analysis be offered?
To male partners of women with recurrent miscarriages (other chromo abnormalities that can occur are robertsonian, ring chromosomes, isodicentric chromos, meiotic abnormalites w/ normal peripheral chromos)
Bilateral Anorchia:
1. What is another name for it?
2. What is their karytype?
3. What is the pathogenesis of this?
4. What are their signs/symptoms?
5. What are their hormone levels?
6. Treatment?
1. Vanishing testis syndrome
2. 46XY
3. In utero had both androgens and mullerian inhibiting substance; testes lost in utero by infection, vascular injury, or torsion.
4. Non-palpable testes. Pre-pubertal male phenotype
5. Low testosterone, elevated gonadotropin levels.
6. Need exogenous testosterone for virilizing during puberty and lifetime maintenance.
In absnence of any testicular tissue; infertility is not treatable.
Describe Crytorchidism:
1. Prevalence
2. Unilateral vs. Bilateral
3. Timing
4. Sperm count
5. Fertility
1. 3%-4% of full term males; 1-1.6% of one year old males.
2. Two thirds are unilateral
3. If not descended by 6mos, unlikely to descend on own.
4. Low sperm count in 50% of bilat, and 25% of unilateral;
5 HINT: direct relationship between testicular position and fertility position!!!! After surg. correction; 80-90% fertility in unilat and 30-50% for bilat!
Testicular torsion:
1. When does it occur
2. Incidence
3. Mech
4. Severity related to
5. Fertility/testicle function
1. Adolescence
2. 1 in 4000 males under 25 yrs.
3. Anatomic abnormality of narrow mesenteric attachment from the spermatic cord onto the testis ("Ball clapper deformity")
4. Duration of torsion
5. If prepubertal, fertility not affected. Bilat test torsion can cause testicular failure
Varicocele:
1. Define
2. Prevalence/Incidence
3. Location... Why?
4. Effect
5. Mechanism
6. Associations
7. treatment results
8. fertility
1. tortuosity/dilatation of testicular veins w/in spermatic cord.
2. 15-20% (rarely dx before age 10), prevalence=40-50% of infertile men.
3. Left sided (a. drainage b. valves c. compression of l. renal vein- sup. mesenteric art and aorta--- 'nutcracker phen')
HINT: Unilateral right suggests IVC thrombosis/occlusion or situs inversus.
4. unilateral can give bilat effect on spermatogenesis.
5. Temperature= most likely. (or renal/adrenal metabolite reflux, dec blood flow, hypoxia)
6. small ipsi testes. dec. sperm conc and motility
7. Repair==> catch up growth and size to normal.
8. Most are fertile b/c modest effect and have good reserve.
What is the most common cause of correctable male infertility?
Varicocele
Sertoli Cell-only Syndrome:
1. Define
2. Fertility
3. Causes
4. Pt presentation
5. Hormone levels
1. Semineferous tubules w/ sertoli cells but no germ cells (sperm).
2. They are sterile, but testicular retrieval works.
3. Y Chromo microdeletions, karyotypic abnormalities, cryptorchidism, orchitis, chemo, radiation, estrogen tx, most are IDIOPATHIC.
4. small to normal testes, azoopermic semec specimens.
Phenotypically normal.
5. FSH often elevated. LH, testosterone= normal.
Orchitis:
1. relationship w/ mumps
2. unilateral or bilateral?
3. Sequelae
4. other dzs giving mumps
5. mech
6. prevalence, why?
7. treatment
1. If get after puberty, 30% get orchitis.
2. bilat 10-30% of time
3. Permanent testicular atrophy may occur mos to yrs after infection
4. syphilis, gonorrhea, leprosy, mono
5. interstitial edema and mononuclear infiltration==> sem. tub. atrophy.
Severe bilat may give hypergonado hypogonadism.
6. uncommon since mumps vaccine; still occurs in dev nations.
7. long-acting GnRH analogs=effective.
TESE w/ IVF/ICSI can be done.
Sertoli Cell-only Syndrome:
1. Define
2. Fertility
3. Causes
4. Pt presentation
5. Hormone levels
1. Semineferous tubules w/ sertoli cells but no germ cells (sperm).
2. They are sterile, but testicular retrieval works.
3. Y Chromo microdeletions, karyotypic abnormalities, cryptorchidism, orchitis, chemo, radiation, estrogen tx, most are IDIOPATHIC.
4. small to normal testes, azoopermic semec specimens.
Phenotypically normal.
5. FSH often elevated. LH, testosterone= normal.
Orchitis:
1. relationship w/ mumps
2. unilateral or bilateral?
3. Sequelae
4. other dzs giving mumps
5. mech
6. prevalence, why?
7. treatment
1. If get after puberty, 30% get orchitis.
2. bilat 10-30% of time
3. Permanent testicular atrophy may occur mos to yrs after infection
4. syphilis, gonorrhea, leprosy, mono
5. interstitial edema and mononuclear infiltration==> sem. tub. atrophy.
Severe bilat may give hypergonado hypogonadism.
6. uncommon since mumps vaccine; still occurs in dev nations.
7. long-acting GnRH analogs=effective.
TESE w/ IVF/ICSI can be done.
Chemo and spermatogenesis:
1. affects what? why? depend on?
2. CA w/ high sterility from treatment
3. Hormone levels during chemo/after
3.
1. spermatogonia, spermatocytes; b/c actively dividing. Depends on drug combos, dose, age of pt at tx.
2. Hodgkins w/ alkylating agents (80-100% sterility)
3. High FSH during; normal FSH post tx= better outcomes.
Describe the effect of chemo on spermatogenesis
No inc risk of birth defects to children born AFTER'.
If DURING, then sex chromosomal and autosomal aneuploidy.
HINT: Sperm bank BEFORE chemo.
How long should contraception be used after chemo?
6-24 mo.
Describe the relative resistance of spermatids to spermatogonia to spermatocytes during radiation.
Spermatids more resistant than spermatogonia or spermatocytes.
Describe testosterone levels during radiation... why?
normal... leydig cells are radioresistant.
Describe FSH during radiation tx.
Increased after radiation, but back to normal after return of spermatogenesis. (length corresponds to dose--- high doses can be 5 yrs)
Describe the infertility risk of radiation tx for tesicular CA
One fourth become permanently infertile from radiation tx.
How long should pts use contraception post radiation?
6-24 mos. Sperm bank BEFORE, not during tx.
no greater risk after tx for offspring.
Describe the effect of heat on spermatogenesis. Examples of heat.
Detrimental (inc. time to cenception)
(saunas, hottub, testes in inguinal canal during day)
How do environmental toxins and occupational exposures affect spermatogenesis?
Adverse effect. impaired semen quality.
organic solvent exposure==> elevated serum FSH levels.
Describe the controversial theory of environmental toxins and occupational exposure
Sperm counts are declining in men because of prenatal exposure to environmental toxicants (endocrine disruptors); that have estrogenic effects on embryo.
Describe the 'street' drugs that affect spermatogenesis. How?
Marijuana- dec testosterone, gynecomastia, dec sperm conc, pyospermia
Cocaine- dec sperm count
Describe the medications that can affect spermatogenesis
Sprinolactone (antiandrogen),
Calcium channel blockers (rev. func. sperm defect),
DES (epididymal cysts, cryptorchidism)
antibiotics- nitrofurantoin (chronic high does=> sperm maturation arrest)
sulfalazine (sperm conc and motility)
cimetidine (germ cell degeneration)
Name three drugs that DO NOT affect spermatogenesis
Finasteride (hair loss drug), 5-aminosalicylic acid (altho sulfalazine does), ranitidine (altho cimetidine does).
Name three drugs that are unknown in their effects on fertility
cyclosporine,
statins
opiods (altho dec testosterone and hypogonado hypogonadism and sexual dysfunction).
Describe the effect of alcohol on fertility
No evidence that MODERATE alcohol impairs fertility.
Describe the general effects of alcohol on male testes.
Testicular atrophy, peritubular fibrosis, reduced germ cells, reduced free testosterone, erectile dysfunction, gynecomastia.
Describe the effects of tobacco on fertility
Conflicting. Most likely is detrimental. Delay in conception, carcinogens in sperm, dec. IVF success.
Describe the effect of caffeine on fertility
No consistant direct effect of caffeine.
Of the patients w/ abnormal semen analysis, how many are idiopathic (no known cause)
25%. likely associated w/ multitude of causes.
Ductal Obstruction:
1. Incidence
2. Bilat or unilat.... consequence of this?
3. etiology
1. 7% to 12% of infertile men (more common in azoospermin men)
2. either, and mult locales. unilat= no problem unless contralat torsion, varicocele or cryptorchidism.
3. congenital (malformation or CBAVD) or acquired (infection, iatrogenic injury, vasectomy)
What are the two most common causes of obstructive azoospermia
1. vasectomy!
2. CBAVD.
CBAVD:
1. Genetic correlation
2. Most common finding
3. Signs/sx.
4. fertility/tx.
1. CFTR GENE!!!! Associated w/ absence of vas deferens. (most CF pts are azoospermic)... most men w/ CBAVD will have CFTR mutation despite not having CF.
2. Caput epididymis WITHOUT remainder of epididymus/vas deferens present.
3. Absent seminal vesicles, renal anomalies (altho more common w/ wolffian duct probs), LOW VOL ACIDIC EJACULATES.
Normal spermatogenesis tho...
4. Sperm removal (surg or percutaneous); IVF/ICSI after genetic testing/CF counseling.
Bilateral complete ejaculatory duct obstruction gives what pathognomonic clinical findings:
Acidic, fructose-negative, low-volume ejaculate azoopsermia.
What is the most common cause of epididymal or vas deferens ductal obstruction?
Describe semen volume.
Describe Tx.
Elective sterilization. Snip snip!
Normal.- testis and epididymis don't contribute a ton of vol.
reconstruction or sperm retrival combined w/ IVF/ICSI.
Ejaculatory problems:
1. Mech (two general)
2. When to suspect.
3. How to dx
4. Causes.
5. Most common cause.
6. Tx, success?
1. prob w/ peristaltic func of vas deferens, or bladder neck closure===> failed emission or retrograde.
2. Low vol/absent ejaculate. Must differentiate from anorgasmia!
3, For retrograde= exam post-ejaculate urine for sperm.
4. Retrograde- anatomic (bladder neck surg, transurethral resection --> neither respond to medicine) neurologic (DM, MS, retroperitoneal surg--> MAY respond to medicine)
5. Spinal Cord Injury
6. Penile Vibratory Stimulation (70% success of spinal cord inj pts.). Works best w/ upper motor neuron lesion (i.e. >T10)
Rectal Probe Ejaculation (electrical current) (Ejaculation in 75%)
--- Preg. can be acheived but usually must do IVF/ICSI. ----
Describe two approaches for treatment of immunologically mediated infertility:
1. Corticosteroids (Not very effective--- only improves fertility in minority of pts.)
2. Select spermatozoa w/o Abs, or remove them for IVF. HINT: if doing ICSI- don't need to remove the antibodies--- so very effective tx.
Ultrastructural Abnormalities of Sperm:
1. Locations of defects.
2. Axonemal defect description.
3. Kartagener's syndrome (describe and inheritance)
4. Dysplasia of the fibrous sheath (describe, another name for it)
5. Sperm head probs
6. Connecting piece probs.
7. Tx:
1. Outer dense fibers, microtubules, mitochondria, connecting piece, acrosome.
2. Flagellum- gives immotile but viable sperm. Commonly associate w/ defects of cilia in the respiratory tract. aka primary ciliary dyskinesia or immotile cilia syndrome. Chronic sinus infections, bronchiectasis are common.
3. Situs inversus plus immotile cilia syndrome; auto rec inheritance.
4. Absent or low sperm molitlity. (With partial form, 20-30% of sperm= normal). the affected sperm have thick short flagella- thus "stump tail syndrome).
5. Globozoospermia- round headed sperm from absence of acrosome and ansence of cytoskel protein (calicin); unknown inheritance; preg=unlikely naturally)
6. Separation of head from tail-- headless motile flagella ("pin-headed sperm-- they don't have any nuclear material attached so they are acephalic sperm)
7. No cure, but can use IVF w/ ICSI- altho can pass the trait on.