[08.26] Male Congenital Disorders V2.pdf

Male Congenital Disorders

What is the general term for conditions present at birth affecting the development and function of the male reproductive tract?

Testes, penis, urethra, seminal vesicles, and epididymis

Which five anatomical structures are mentioned as part of the male reproductive tract affected by congenital disorders?

Cryptorchidism

What is the medical term for the failure of one or both testes to descend into the scrotum?

Last trimester of pregnancy

During which stage of fetal development does the testis normally descend into the scrotum?

Infertility, testicular cancer, and hormonal imbalances

List three potential consequences if cryptorchidism is left untreated.

Orchiopexy

What is the name of the surgical procedure used to place the testes into the scrotum?

Before the child is 1 year old

At what age is orchiopexy often performed?

True undescended testis

Which type of cryptorchidism occurs when the testis arrests along the normal track of migration?

Ectopic testis

What is the term for a testis that wanders outside the path of migration from the abdomen to the scrotum?

Abdominal, inguinal, and suprascrotal

According to the diagram, what are the three locations for a true undescended testis?

Prepenile, superficial ectopic, transverse scrotal, femoral, and perineal

Name five sites where an ectopic testis might be found in cryptorchidism?

Hypospadias

What congenital condition involves the urethral opening being located on the ventral or underside of the penis?

Incomplete closure of the urethral folds

What developmental failure during fetal growth causes hypospadias?

Glandular, subcoronal, distal penile, midshaft, proximal penile, penoscrotal, scrotal, and perineal

Name the types of hypospadias based on the location of the urethral meatus.

Urine spraying or dribbling

What common difficulty with urination is seen in hypospadias?

Deposition of sperm into the partner

How can penoscrotal hypospadias specifically affect sexual reproduction?

Glandular type

Which type of hypospadias may not require surgical correction if urination and sexual function are normal?

Cosmetic reasons

Which reason for correcting hypospadias might not alone warrant surgery according to the doctor's notes?

Chordee

What term refers to the congenital curvature of the penis often associated with hypospadias?

Reposition the urethral opening and correct the chordee

What are the two primary goals of surgical correction for hypospadias?

Epispadias

What rare condition involves the urethral opening being located on the dorsal or upper side of the penis?

Bladder or pelvic floor abnormalities

With what other abnormalities can epispadias be associated?

Difficulty with urination, sexual dysfunction, and possible incontinence

List three symptoms or complications of epispadias.

Prune Belly Syndrome

Epispadias can be a part of which rare congenital condition also known as Eagle-Barrett Syndrome?

Urinary tract abnormalities, muscle underdevelopment, and undescended testis

What three characteristics define Prune Belly Syndrome?

Hypotonia

What term describes the muscle underdevelopment that causes the wrinkled appearance of the abdomen in Prune Belly Syndrome?

Testicular torsion

What condition occurs when the spermatic cord twists and cuts off blood flow to the testes?

Bell-clapper deformity

What congenital condition makes the testicles more mobile and prone to torsion?

Gubernaculum

In a bell-clapper deformity, which structure fails to properly anchor the testicle to the scrotum?

Trauma, rapid growth, cold weather, and previous torsion

Besides congenital factors, list four other causes of testicular torsion.

Cremasteric reflex

Which reflex causes the testicles to move upward in cold temperatures?

Medial rotation

In which direction does the testicle typically rotate in most cases of torsion?

Severe scrotal pain, swelling, and tenderness

What is the usual clinical presentation of testicular torsion?

Antibiotics and painkillers

What is the treatment for orchitis, which distinguishes its management from torsion?

Surgery

What is the necessary treatment for testicular torsion?

Scrotal ultrasound with doppler

Which diagnostic tool is used to visualize blood flow to the scrotum?

Ischemia or no blood flow

What does a Doppler ultrasound show in cases of testicular torsion?

Hyperemia

What does a Doppler ultrasound show in cases of orchitis?

Explore the scrotum

What action is taken if a physician is still in doubt about the diagnosis after diagnostics for suspected torsion?

Within 6 hours

What is the critical time window to correct testicular torsion to avoid permanent damage?

Orchiectomy or infertility

What are the two major risks of delaying treatment for testicular torsion?

Medical or surgical emergency

Testicular torsion is always considered what type of clinical event?

Manual detorsion

What non-surgical maneuver can be a viable emergency treatment for torsion?

Medial to lateral

In which direction should manual detorsion be performed?

Open the book

What is the analogy used to remember the direction of manual detorsion?

180 to 360 degrees

What is the typical degree of rotation needed for a single twist in detorsion?

720 degrees

Up to how many degrees of torsion might some cases require to resolve through repeated attempts?

Extra X chromosome

What is the genetic cause of Klinefelter Syndrome?

Small testes, low testosterone, and infertility

What three reproductive tract abnormalities are associated with Klinefelter Syndrome?

Tall stature and learning difficulties

Name two non-reproductive symptoms of Klinefelter Syndrome.

Broader hips, longer legs, and larger breasts

What physical traits are characteristic of the Klinefelter body type?

Weaker bones, lower energy, and less facial/body hair

List three systemic signs of Klinefelter Syndrome mentioned in the signs diagram.

Testosterone replacement therapy

What is the primary hormonal management for Klinefelter Syndrome?

IVF with sperm retrieval

What assisted reproductive technology can help men with Klinefelter seeking children?

Congenital Bilateral Absence of the Vas Deferens (CBAVD)

What condition is identified when the tubes that carry sperm are absent on physical exam?

Cystic fibrosis

CBAVD is often strongly associated with which genetic disease?

Idiopathic

What term is used when CBAVD occurs with no known cause?

The female partner seeks medical evaluation for infertility

Who is usually the first to seek medical help in cases of CBAVD?

Azoospermia

What is the medical term for the total absence of sperm in the semen?

Shooting blanks

What is the informal term mentioned for azoospermia in CBAVD?

TESE

Which acronym refers to the technique used to retrieve sperm directly from the testis?

ICSI

What acronym refers to the direct injection of a sperm into an egg?

Micropenis

What is the term for a penile size that is significantly small relative to age?

Less than 2.5 standard deviations below the mean

How is micropenis defined relative to the mean for age?

1.9 cm or 0.75 inches

What is the cutoff length for micropenis in a term infant?

9.3 cm or 3.67 inches

What is the cutoff length for micropenis in an adult?

Low testosterone during fetal development

What hormonal imbalance can cause micropenis?

Psychological distress and issues with sexual function

List two complications of micropenis.

Hormonal therapy

What is a non-surgical treatment for micropenis using testosterone?

Prader Willi Syndrome

Which genetic disorder involves the loss of function of genes on chromosome 15?

Hypogonadism, infertility, and obesity

What are the three main clinical features of Prader Willi Syndrome?

Underdeveloped genitalia and poor sexual function

How does Prader Willi affect the male reproductive tract?

Insatiable appetite

What symptom related to feeding is characteristic of Prader Willi Syndrome?

Testosterone patch

Which form of testosterone treatment is mentioned as not available in the Philippines?

Prader Willi affects brain/feeding; Prune Belly affects abdominal muscles/urinary system

Contrast the primary systems affected by Prader Willi versus Prune Belly Syndrome.

Persistent Mullerian Duct Syndrome (PMDS)

What condition involves XY males having remnants of female reproductive structures like a uterus?

MIS gene mutation

A mutation in which gene causes PMDS?

Halts female development for those born male

What is the normal role of the MIS gene located on the Y chromosome?

Male phenotypically and male XY karyotype

What is the typical phenotype and karyotype of a patient with PMDS?

Uterus and fallopian tubes

Which two specific female structures are mentioned as remnants in PMDS?

Vagina

Which female reproductive structure is specifically absent in PMDS?

Inguinal hernias and undescended testes

What two clinical findings can be associated with PMDS remnants?

Hysterectomy with gonadectomy

What is the name of the surgical procedure to remove both the uterus and the unidentifiable gonad?

Gonad

What term is used for a reproductive organ when it is unidentifiable as a testis or ovary?

Lifelong testosterone replacement therapy

What is required after a gonadectomy or orchiectomy in PMDS management?

Hernia

In the clinical correlation, what was the patient with PMDS initially misdiagnosed with?

Androgen Insensitivity Syndrome (AIS)

Which genetic condition results in an XY male developing female physical traits due to hormone resistance?

Androgen receptor gene mutation

What is the specific genetic cause of AIS?

Short or blind-ending vagina

Describe the vaginal opening in a patient with AIS.

Uterus and cervix

Which two internal female structures are absent in AIS?

Internal testes

Where are the testes usually located in a patient with AIS?

Genitoplasty

What surgical intervention is mentioned for genital reconstruction in AIS?

DSD

What is the acronym for disorders of sexual differentiation like AIS?

Penetrate during coitus and deposit sperm into the vagina

According to the source, what two abilities determine a male's ability to sexually reproduce?

Karyotyping

Which diagnostic tool is specifically noted as unable to diagnose PMDS due to a normal XY result?

Ventral surface

What is the synonym for the underside of the penis in hypospadias?

Dorsal surface

What is the synonym for the upper side of the penis in epispadias?

Blastocyst

In IVF, what is placed inside the female after the egg grows?

Ischemia

What lack of blood flow term is the Doppler finding for torsion?

Hyperemia

What excess blood flow term is the Doppler finding for orchitis?