U WORLD (STEP 1) – NEUROLOGY (EDUCATIONAL OBJECTIVES)

Last Updated: Mar 13 2020

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 EMBRYOLOGY

Klinefelter Syndrome

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• 47,XXY – MC genotype causing Klinefelter syndrome.
• Patients present with
✓ Tall stature
✓ Small, firm testes
✓ Azoospermia
✓ Gynecomastia
• Mild intellectual disability
✓ Seen in some patients
✓ Severity generally ↑ with each additional X chromosome

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• Klinefelter syndrome (47,XXY)
✓ Primary hypogonadism with
✓ ↓ Testosterone
✓ ↑ Gonadotropin (Fsh, Lh)
• In addition, ↑ estradiol results in the common finding of Gynecomastia

Mullerian Inhibitory Factor

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• Embryonic Testis secretes
✓ Testosterone
✓ Müllerian Inhibiting Factor (MIF)
• MIF
✓ Is responsible for regression of the paramesonephric (müllerian) ducts that normally give
rise to the internal genitalia in the female fetus.
• Testosterone
✓ Mediates development of male internal genitalia
• DHT
✓ Mediates development of the external genitalia.

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Sexual Differentiation

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• SRY gene on Y chromosome
✓ codes for the testes-determining factor,
✓ which differentiates the primitive gonads into testes.
• Sertoli cells
✓ Produce anti-Müllerian hormone,
✓ which causes
➢ Regression of the Müllerian ducts and
➢ Suppresses female internal reproductive organ development
• Leydig cells
✓ Produce testosterone,
✓ differentiating Wolffian ducts into internal male reproductive organs.
• Di Hydro Testosterone (DHT)
✓ Is required for differentiation of the external male genitalia.

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 PROSTATE

Benign Prostatic Hyperplasia (BPH)

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• Prostate
✓ Is located between pubic symphysis and anal canal
✓ Is visible on inferior sections of pelvis on CT scan
• BPH
✓ Common, age-related condition
✓ Causes Urinary Symptoms (eg, hesitancy, straining, incomplete voiding)
✓ It can be medically treated with
➢ α-adrenergic blockers
➢ 5-α reductase inhibitors

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5 α Reductase Inhibitors (Finasteride, Dutasteride)
• Block conversion of testosterone to DHT in prostate
• These drugs
✓ Reduce prostate volume in patients with BPH
✓ Relieve the fixed component of bladder outlet obstruction

Prostate Cancer

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Flutamide
• Non Steroid anti-androgen
• Acts as a competitive inhibitor of testosterone receptors
• It is used in combination with Long-Acting Gnrh Agonists for the treatment of prostate
cancer.

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Skeletal System
• The skeletal system is a common site of metastasis due to Hematogenous Seeding
• Cancers of the pelvis, including the prostate,
✓ spread to the lumbosacral spine via the vertebral venous plexus,
✓ which in turn communicates with a number of venous networks, including the Prostatic
Venous Plexus.

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 SCORTUM

Scrotum

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Lymphatic Drainage
• Due to its intra-abdominal origin, lymphatic drainage of Testis is to Para-Aortic Lymph Nodes
• Lymph drainage from Scrotum goes into the Superficial Inguinal Lymph Nodes

TESTES

Crypt Orchidism

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• In undescended testes, the Seminiferous Tubules Atrophy if uncorrected due to Higher
Body Temperatures, resulting in
✓ ↓ fertility
✓ ↑ risk for malignancy
• Orchio Pexy
✓ surgical placement of the testes in the scrotal sac
✓ can minimize damage and ↓ risk for testicular cancer

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• Superficial Inguinal Ring is a physiologic opening in External Abdominal Oblique
• Deep Inguinal Ring is a physiologic opening in Transversalis Fascia
• Surgical repair of an undescended testicle lodged in inguinal canal involves moving the
testes through the superficial inguinal ring & fixing it in scrotum (Orchio Pexy)

Epididymitis

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• Epididymitis
✓ Acute testicular pain
✓ Tenderness
✓ Pyuria
• It is caused by retrograde passage of organisms from the urethra into Ejaculatory Duct and
Vas Deferens
• Microbiology is largely influenced by patient age:
✓ In Young Men is usually due to sexually acquired infections
(Chlamydia trachomatis, Neisseria gonorrhoeae)
✓ In Older Men (age >35) it is usually due to gram-negative colonic flora.

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Testicular Cancer

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Human Chorionic Gonadotropin (HCG)
• Has a structure similar to TSH
• Patients with Testicular Germ Cell Tumors or Gestational Trophoblastic Disease
✓ May develop very high serum hCG concentrations,
✓ which can stimulate TSH receptors and cause Paraneoplastic Hyperthyroidism.

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• Lymph from Testes drains through lymph channels directly back to Para-Aortic lymph nodes.
• Lymph from the Scrotum drains to the Superficial Inguinal lymph nodes.

15804
Testicular Cancer
• Painless, Solid Scrotal Mass should be considered testicular cancer until proven otherwise.
• Examination:
✓ Solid, Firm or Fixed Nodule in tunica albuginea
✓ Ovoid in shape
✓ Painless to palpation
• Testicular tumors Do Not Illuminate

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Germ Cell Tumors
• Most cases of testicular cancer are either
✓ Seminomatous Germ Cell Tumors or
✓ Non Seminomatous Germ Cell Tumors
• Non Seminomatous Germ Cell Tumors
✓ Composed of partially differentiated germ cells,
✓ which often retain the ability to secrete HCG & AFP (serum tumor markers).
✓ Serum lactate dehydrogenase (LDH), a marker of tissue injury & cell turnover, is also
frequently ↑.

Testicular Torsion

11658
• Testicular torsion
✓ Due to twisting of the testis around the spermatic cord (containing the gonadal artery),
✓ which can eventually lead to ischemia.
• Gonadal Artery arises from the abdominal aorta.
• Right Gonadal Vein drains directly into IVC
• Left Gonadal Vein drains into left renal vein

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 VAS DEFERENS

Cystic Fibrosis

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Congenital Bilateral Absence of Vas Deferens (CBAVD)
• CFTR gene mutations – MCC of CBAVD
• Patients with CBAVD
✓ Have azoospermia and infertility
✓ But normal levels of FSH, LH, Testosterone
• ↑ Sweat Chloride Levels are diagnostic of cystic fibrosis.

Contraception

8468
• After Vasectomy, viable sperm remain in the portion of the vas deferens distal to the
ligation.
• Patients can still have viable sperm in the ejaculate
✓ For 3 months and
✓ At least 20 ejaculations

SPERM

Bronchi Ectasis

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Primary Ciliary Dyskinesia
• Results from an AR mutation in the proteins responsible for normal flagellar and ciliary
structure and function (eg, dynein, assembly proteins).
• Clinical manifestations
✓ Situs inversus
✓ Chronic sinusitis
✓ Bronchiectasis
✓ Infertility

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 URETHRA

Urethral Injury

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• Injury to Posterior Urethra is a/w Pelvic Fractures
• Anterior Urethra is MC damaged in Straddle Injuries

• Suggestive of urethral injury, particularly in the presence of a Pelvic Fracture

Hypo Spadias

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• In males, incomplete fusion of the urethral (urogenital) folds results in Hypospadias,
✓ an abnormal opening of the urethra
✓ proximal to the glans penis along the ventral shaft of the penis.

PENIS

Erectile Dysfunction

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• Psychogenic Causes of erectile dysfunction
✓ Performance anxiety
✓ Depression
✓ Sexual trauma
✓ Relationship problems
✓ Stress
• Important clues
✓ Sudden-onset
✓ Normal nocturnal erections

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• Prostatic Plexus
✓ Lies within the fascia of the prostate
✓ Innervates the corpus cavernosa of the penis, which facilitates penile erection.
• As a result, Prostatectomy or Injury To Prostatic Plexus can cause erectile dysfunction.

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Hydrocele

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• Communicating Hydroceles and Indirect Inguinal Hernias are caused by an incomplete
obliteration of the processus vaginalis.
• The resultant connection between the scrotum and abdominal cavity can allow for
✓ Fluid leakage (hydrocele) or
✓ Passage of abdominal contents (indirect inguinal hernia)

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Communicating Hydrocele
• Results when serous fluid accumulates within the Tunica Vaginalis in the setting of a patent
processus vaginalis.
• It presents as a Painless Swelling that Transilluminates on examination.