Abnormal descent of the perineum may be asymptomatic, but otherwise the following may feature:

- perineodynia (perineal pain)

- Colo-proctological symptoms, e.g. obstructed defecation, dyschesia (constipation), or degrees of fecal incontinence

- gynaecological symptoms, e.g. cystocele (prolapse of the bladder into the vagina) and rectocele (prolapse of the rectum into the vagina)

- lower urinary tract symptoms, e.g. dysuria (painful urination), dyspareunia (pain during sexual intercourse), urinary incontinence & urgency

Other researchers concluded that abnormal perineal descent did not correlate with constipation or perineal pain, and there are also conflicting reports of the correlation of fecal incontinence with this condition.

The condition mainly occurs in women, and it is thought by some to be one of the main defects encountered problem in perineology.

Obstructed defecation is one of the causes of chronic constipation. Obstructed defecation could be considered to be a type of bowel obstruction, where it may be classified under large bowel obstruction. Obstructed defecation frequently gives rise to a symptom called tenesmus. Constipation, bowel obstruction and tenesmus are therefore all closely related topics.

Outlet obstruction can be classified into 4 groups.

- Functional outlet obstruction

- Mechanical outlet obstruction

- Dissipation of force vector

- Impaired rectal sensitivity

Fecal incontinence to gas, liquid, solid stool, or mucus in the presence of obstructed defecation symptoms may indicate occult rectal prolapse (i.e. rectal intussusception), internal/external anal sphincter dysfunction, or descending perineum syndrome.

A perineal tear is a laceration of the skin and other soft tissue structures which, in women, separate the vagina from the anus. Perineal tears mainly occur in women as a result of vaginal childbirth, which strains the perineum. Tears vary widely in severity. The majority are superficial and require no treatment, but severe tears can cause significant bleeding, long-term pain or dysfunction. A perineal tear is distinct from an episiotomy, in which the perineum is intentionally incised to facilitate delivery.

Tears are classified into four categories:

- First-degree tear: laceration is limited to the fourchette and superficial perineal skin or vaginal mucosa

- Second-degree tear: laceration extends beyond fourchette, perineal skin and vaginal mucosa to perineal muscles and fascia, but not the anal sphincter

- Third-degree tear: fourchette, perineal skin, vaginal mucosa, muscles, and anal sphincter are torn; third-degree tears may be further subdivided into three subcategories:

- 3a: partial tear of the external anal sphincter involving less than 50% thickness

- 3b: greater than 50% tear of the external anal sphincter

- 3c: internal sphincter is torn

- Fourth-degree tear: fourchette, perineal skin, vaginal mucosa, muscles, anal sphincter, and rectal mucosa are torn

Perineal hernia is a hernia involving the perineum (pelvic floor). The hernia may contain fluid, fat, any part of the intestine, the rectum, or the bladder. It is known to occur in humans, dogs, and other mammals, and often appears as a sudden swelling to one side (sometimes both sides) of the anus.

A common cause of perineal hernia is surgery involving the perineum. Perineal hernia can be caused also by excessive straining to defecate (tenesmus). Other causes include prostate or urinary disease, constipation, anal sac disease (in dogs), and diarrhea. Atrophy of the levator ani muscle and disease of the pudendal nerve may also contribute to a perineal hernia.

In humans, a major cause of perineal hernia is perineal surgery without adequate reconstruction. In some cases, particularly surgeries to remove the coccyx and distal sacrum, adequate reconstruction is very difficult to achieve. The posterior perineum is a preferred point of access for surgery in the pelvic cavity, particularly in the presacral space. Surgeries here include repair of rectal prolapse and anterior meningocele, radical perineal prostatectomy, removal of tumors including sacrococcygeal teratoma, and coccygectomy. Perineal hernia is a common complication of coccygectomy in adults, but not in infants and children (see coccygectomy).

The standard surgical technique for repair of perineal hernia uses a prosthetic mesh, but this technique has a high rate of failure due to insufficient anchoring. Promising new techniques to reduce the rate of failure include an orthopedic anchoring system, a gluteus maximus muscle flap, an acellular human dermis graft, and an acellular pig collagen graft.

There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula.

The classical Wingspread classification was in low and high anomalies:

- A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.

- A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.

- A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and urinary tract are joined into a single channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.

PPSH usually consists of:

- a phallus midway in size between penis and clitoris,

- a chordee tethering it to the perineum,

- a urethral opening usually on the perineum (the hypospadias),

- and an incompletely closed urogenital opening, which resembles a small and shallow vagina.

Testes are often palpable in the scrotum or inguinal canals, and the karyotype is XY. In most cases there are no internal female structures such as a uterus or other Müllerian duct derivatives.

There are other forms of anorectal malformations though imperforate anus is most common. Other variants include anterior ectopic anus. This form is more commonly seen in females and presents with constipation.

Post-void dribbling or post-micturition dribbling is the where urine remaining in the urethra after voiding the bladder slowly leaks out after urination. A common and usually benign complaint, it may be a symptom of urethral diverticulum, prostatitis and other medical problems.

Men who experience dribbling, especially after prostate cancer surgery, will choose to wear incontinence pads to stay dry. Also known as guards for men, these incontinence pads conform to the male body. Some of the most popular male guards are from Tena, Depends, and Prevail. Simple ways to prevent dribbling include: strengthening pelvic muscles with Kegel exercises, changing position while urinating, or pressing on the perineum to evacuate the remaining urine from the urethra. Sitting down while urinating is also shown to alleviate complaints: a meta-analysis on the effects of voiding position in elderly males with benign prostate hyperplasia found an improvement of urologic parameters in this position, while in healthy males no such influence was found.

Most cases involve a small and bifid penis, which requires surgical closure soon after birth, often including a reconstruction of the urethra. Where it is part of a larger exstrophy, not only the urethra but also the bladder (bladder exstrophy) or the entire perineum (cloacal exstrophy) are open and exposed on birth, requiring closure.

Despite the similarity of name, an epispadias is not a type of hypospadias, and involves a problem with a different set of embryologic processes.

Women can also have this type of congenital malformation. Epispadias of the female may occur when the urethra develops too far anteriorly, exiting in the clitoris or even more forward. For females, this may not cause difficulty in urination but may cause problems with sexual satisfaction. Frequently, the clitoris is bifurcated at the site of urethral exit, and therefore clitoral sensation is less intense during sexual intercourse due to frequent stimulation during urination. However, with proper stimulation, using either manual or positional techniques, clitoral orgasm is definitely possible.

Odynorgasmia, or painful ejaculation, is a physical syndrome described by pain or burning sensation of the urethra or perineum during or following ejaculation. Causes include infections associated with urethritis, prostatitis, epididymitis, as well as use of anti-depressants.

It is considered a form of 5-alpha-reductase deficiency involving SRD5A2.

Retrograde ejaculation occurs when semen, which would, in most cases, be ejaculated via the urethra, is redirected to the urinary bladder. Normally, the sphincter of the bladder contracts before ejaculation forcing the semen to exit via the urethra, the path of least resistance. When the bladder sphincter does not function properly, retrograde ejaculation may occur. It can also be induced deliberately by a male as a primitive form of male birth control (known as "coitus saxonicus") or as part of certain alternative medicine practices.

Many other less common conditions can lead to testicular pain. These include inguinal hernias, injury, hydroceles, and varicoceles among others. Testicular cancer is usually painless. Another potential cause is epididymal hypertension (also known as "blue balls").

Testicular torsion usually presents with an acute onset of diffuse testicular pain and tenderness of less than 6 hrs of duration. There is often an absent or decreased cremasteric reflex, the testicle is elevated, and often is horizontal. It occurs annually in about 1 in 4000 males before 25 years of age, is most frequent among adolescents ( 65% of cases presenting between 12 – 18 years of age ), and is rare after 35 years of age. Because it can lead to necrosis within a few hours, it is considered a surgical emergency. Another version of this condition is a chronic illness called intermittent testicular torsion (ITT) which is characterized by recurrent rapid acute onset of pain in one testis which will temporarily assume a horizontal or elevated position in the scrotum similar to that of a full torsion followed by eventual spontaneous detortion and rapid solution of pain. Nausea or vomiting may also occur.

Bloody show is the passage of a small amount of blood or blood-tinged mucus through the vagina near the end of pregnancy. It can occur just before labor or in early labor as the cervix changes shape, freeing mucus and blood that occupied the cervical glands or cervical os. Bloody show is a relatively common feature of pregnancy, and it does not signify increased risk to the mother or baby . A larger amount of bleeding, however, may signify a more dangerous, abnormal complication of pregnancy, such as placental abruption or placenta previa. Large amounts of bleeding during or after childbirth itself may come from uterine atony or laceration of the cervix, vagina, or perineum.

Three common signs of the onset of labor are:

1. A bloody show

2. Rupture of membranes ("Water breaking")

3. Onset of tightenings or contractions

However, these may occur at any time and in any order. Some women neither experience a bloody show nor have their "water break" until well into advanced labor. Therefore, neither bloody show nor rupture of membranes are required to establish labor.

Chronic idiopathic constipation is similar to constipation-predominant irritable bowel syndrome (IBS-C); however, people with CIC do not have other symptoms of IBS, such as abdominal pain. Diagnosing CIC can be difficult as other syndromes must be ruled out as there is no physiological cause for CIC. Doctors will typically look for other symptoms, such as blood in stool, weight loss, low blood count, or other symptoms.

To be considered functional constipation, symptoms must be present at least a fourth of the time.

Possible causes are:

- Anismus

- Descending perineum syndrome

- Other inability or unwillingness to control the external anal sphincter, which normally is under voluntary control

- A poor diet

- An unwillingness to defecate

- Nervous reactions, including prolonged and/or chronic stress and anxiety, that close the internal anal sphincter, a muscle that is not under voluntary control

- Deeper psychosomatic disorders which sometimes affect digestion and the absorption of water in the colon

There is also possibility of presentation with other comorbid symptoms such as headache, especially in children.

Depending on the level of obstruction, bowel obstruction can present with abdominal pain, swollen abdomen, abdominal distension, vomiting, fecal vomiting, and constipation.

Bowel obstruction may be complicated by dehydration and electrolyte abnormalities due to vomiting; respiratory compromise from pressure on the diaphragm by a distended abdomen, or aspiration of vomitus; bowel ischemia or perforation from prolonged distension or pressure from a foreign body.

In small bowel obstruction, the pain tends to be colicky (cramping and intermittent) in nature, with spasms lasting a few minutes. The pain tends to be central and mid-abdominal. Vomiting may occur before constipation.

In large bowel obstruction, the pain is felt lower in the abdomen and the spasms last longer. Constipation occurs earlier and vomiting may be less prominent. Proximal obstruction of the large bowel may present as small bowel obstruction.

Saddle anesthesia is a loss of sensation (anesthesia) restricted to the area of the buttocks, perineum and inner surfaces of the thighs.

It is frequently associated with the spine-related injury cauda equina syndrome. It is also seen in conus medullaris, the difference is that it is symmetrical in conus medullaris and asymmetric in cauda equina.It may also occur as a temporary side-effect of a sacral extra-dural injection:

A malfunctioning bladder sphincter, leading to retrograde ejaculation, may be a result either of:

- Autonomic nervous system dysfunction. (Dysautonomia)

- Operation on the prostate. It is a common complication of transurethral resection of the prostate, a procedure in which prostate tissue is removed, slice by slice, through a resectoscope passed along the urethra.

It can also be caused by a retroperitoneal lymph node dissection for testicular cancer if nerve pathways to the bladder sphincter are damaged, with the resulting retrograde ejaculation being either temporary or permanent. Modern nerve-sparing techniques seek to reduce this risk; however, it may also occur as the result of Green Light Laser prostate surgery.

Surgery on the bladder neck accounted for about ten percent of the cases of retrograde ejaculation or anejaculation reported in a literature review.

Retrograde ejaculation is a common side effect of medications, such as tamsulosin, that are used to relax the muscles of the urinary tract, treating conditions such as benign prostatic hyperplasia. By relaxing the bladder sphincter muscle, the likelihood of retrograde ejaculation is increased.

The medications that mostly cause it are antidepressant and antipsychotic medication, as well as NRIs such as atomoxetine; patients experiencing this phenomenon tend to quit the medications.

Retrograde ejaculation can also be a complication of diabetes, especially in cases of diabetics with long term poor blood sugar control. This is due to neuropathy of the bladder sphincter. Post-pubertal males (aged 17 to 20 years) who experience repeated episodes of retrograde ejaculation are often diagnosed with urethral stricture disease shortly after the initial complaint arises. It is currently not known whether a congenital malformation of the bulbous urethra is responsible, or if pressure applied to the base of the penis or perineum immediately preceding ejaculatory inevitability may have inadvertently damaged the urethra. This damage is most often seen within 0.5 cm of the ejaculatory duct (usually distal to the duct).

Retrograde ejaculation can also result from pinching closed the urethral opening, to avoid creating a mess upon ejaculation (known as "Hughes' technique").

Aphallia is a congenital malformation in which the phallus (penis or clitoris) is absent. It is the female counterpart of penile agenesis and testicular agenesis. The word is derived from the Greek "a-" for "not", and "phallos" for "penis". It is classified as an intersex condition.