Most patients report acute anxiety attacks due to perceived genital retraction and/or genital shrinkage, despite a lack of any objectively visible biological changes in the genitalia that are longstanding. "Longstanding" refers to changes that are sustained over a significant period and do not appear reversible, unlike the effect of cold temperatures on some genital regions that cause retraction. These changes may trigger a koro attack when observed, although the effects of cold temperatures are objectively reversible. According to literature, episodes usually last several hours, though the duration may be as long as two days. There are cases in which koro symptoms persist for years in a chronic state, indicating a potential co-morbidity with body dysmorphic disorder. In addition to retraction, other symptoms include a perception of alteration of penis shape and loss of penile muscle tone. In cases when sufferers have no perception of retraction, some patients may complain of genital paraesthesia or genital shortening. Among females, the cardinal symptom is nipple retraction in the breast, generally into the breast as a whole.

Psychological components of koro anxiety include fear of impending death, penile dissolution and loss of sexual power. Feelings of impending death along with retraction and perceived spermatorrhea has a strong cultural link with Chinese traditional beliefs. This is demonstrated by the fact that Asians generally believe koro symptoms are fatal, unlike most patients in the West. Other ideational themes are intra-abdominal organ shrinkage, sex change to female or eunuch, non-specific physical danger, urinary obstruction, sterility, impending madness, spirit possession and a feeling of being bewitched.

Extremely anxious sufferers and their family members may resort to physical methods to prevent the believed retraction of the penis. A man may perform manual or mechanical penile traction, or "anchoring" by a loop of string or some clamping device. Similarly, a woman may be seen grabbing her own breast, pulling her nipple, or even having iron pins inserted into the nipple. Physical injury may occur from these attempts. These forceful attempts often lead to injuries, even death.

Men who present with this complaint may have Koro, but they may also be misinformed about normal genital size. Additionally, they may be suffering from penile dysmorphophobia. Penile dysmorphophobia is related to body dysmorphic disorder (BDD), defined by the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (Text Revision) (DSM-IV-TR) as a condition marked by excessive preoccupation with an imaginary or minor defect in a facial feature or localized part of the body. BDD is different from Koro. In Koro, a patient is overcome with the belief that his penis is actively shrinking, and it may be in imminent danger of disappearing. Clinical literature indicates that these two psychological conditions should be separated during differential diagnosis.

In addition to differentiating Koro from body dysmorphic disorder, physicians also recommend that differential diagnosis separates Koro from physical urological abnormalities. For example, one physical disorder that causes loss of penile size is Peyronie's disease, where the tunica albuginea develops scar tissue that prevents the full expansion of an erection and causes flaccid penis retraction. Additionally, a buried penis is a normally developed penis, partially covered by the suprapubic fat which can be surgically removed.

Autistic enterocolitis is the name of a nonexistent medical condition proposed by discredited British gastroenterologist Andrew Wakefield when he suggested a link between a number of common clinical symptoms and signs which he contended were distinctive to autism. The existence of such an enterocolitis has been dismissed by experts as having "not been established". Wakefield's now-retracted and fraudulent report used inadequate controls and suppressed negative findings, and multiple attempts to replicate his results have been unsuccessful.

Reviews in the medical literature have found no link between the MMR vaccine and autism or with bowel disease.

Most of Wakefield's coauthors later retracted the conclusions of the original paper proposing the hypothesis, and the General Medical Council found Wakefield guilty of manipulating patient data and misreporting results. His work has been exposed as falsified and described as an "elaborate fraud".

Physical arousal caused by this syndrome can be very intense and persist for extended periods, days or weeks at a time. Orgasm can sometimes provide temporary relief, but within hours the symptoms return. The return of symptoms, with the exception of known triggers, is sudden and unpredictable. Failure or refusal to relieve the symptoms often results in waves of spontaneous orgasms in women and ejaculation in men. The symptoms can be debilitating, preventing concentration on mundane tasks. Some situations, such as riding in an automobile or train, vibrations from mobile phones, and even going to the toilet can aggravate the syndrome unbearably causing the discomfort to verge on pain. It is not uncommon for sufferers to lose some or all sense of pleasure over the course of time as release becomes associated with relief from pain rather than the experience of pleasure. Some sufferers have said that they shun sexual relations, which they may find to be a painful experience. The condition may last for many years and can be so severe that it has been known to lead to depression and even suicide.

A Dutch study has connected PGAD with restless legs syndrome.

Persistent genital arousal disorder (PGAD), originally called persistent sexual arousal syndrome (PSAS), Weiss Disease, and also known as restless genital syndrome (ReGS or RGS), results in a spontaneous, persistent, and uncontrollable genital arousal, with or without orgasm or genital engorgement, unrelated to any feelings of sexual desire. It was only recently characterized as a distinct syndrome in medical literature with a comparable counterpart increasingly reported by men. It was studied as far back as 1986 and in the 90s was researched by the Dutch.

Some physicians use the term "persistent sexual arousal syndrome" to refer to the condition in women; others consider the syndrome of priapism in men to be the same disorder. Priapism was a recognized, diagnosable medical condition in the "Diagnostic and Statistical Manual of Mental Disorders" IV, whereas PGAD was not. With the release of the DSM-5 in 2013, PGAD was again not included as a listed condition.

In particular, it is not related to hypersexuality, sometimes known as nymphomania or satyriasis. (Hypersexuality, nymphomania, and satyriasis are also not recognized diagnosable medical conditions by the DSM-IV).

Anorgasmia, or Coughlan's syndrome, is a type of sexual dysfunction in which a person cannot achieve orgasm despite adequate stimulation. In males, it is most closely associated with delayed ejaculation. Anorgasmia can often cause sexual frustration. Anorgasmia is far more common in females (4.7 percent) than in males and is especially rare in younger men. The problem is greater in women who are post-menopause.

Until the 1970s, autism was rarely accepted to be a distinctive diagnosis, but, following changes to the Diagnostic and Statistical Manual of the American Psychiatric Association it is diagnosed much more often. How much of this increase is due to greater diagnostic vigilance by doctors, changes in diagnostic categories, or an actual increase in prevalence, remains unclear. Late-onset autism cases are estimated at 25% and reported by sources including the "British Medical Journal" as not having changed in recent years.

Despite others describing common bowel features, there have been no peer reviewed studies yet published, as of 2006, corroborating the existence of "autistic enterocolitis"; other studies have explicitly refuted its existence. Thus, it is not generally accepted that the types of colitis diagnosed in autistic individuals are either unique to autism, or more common in autistic people than in the general population.

In medicine, Infantilism is an obsolete term for various, often unrelated disorders of human development, up to developmental disability, which consist of retention of the physical and/or psychological characteristics of early developmental stages (infant, child) into a relatively advanced age.

Various types of infantilism were recognized, lumped together in the above superficial description. With better understanding of the endocrine system and genetic disorders, various disorders which included the word "infantilism" received other names. For example, Brissaud's infantilism, described by Édouard Brissaud in 1907 is now known as myxedema (a form of hypothyroidism); "intestinal infantilism" of Christian Archibald Herter is called coeliac disease. The Turner syndrome was described as "a syndrome of infantilism" by Henry Turner himself.

Terms such as "genital infantilism" (infantilism in development of genitals, hypogenitalism), or "sexual infantilism" (lack of sexual development after expected puberty or delayed puberty) may still be seen, and are considered to be synonyms of hypogonadism. "Somatic infantilism" refers to infantilism of overall bodily development. Speech infantilism is a speech disorder.

Similarly to some other medical terms (cretinism, idiotism), "infantilism"/"infantile" may be used pejoratively (synonymous to "immature").

The condition is sometimes classified as a psychiatric disorder. However, it can also be caused by medical problems such as diabetic neuropathy, multiple sclerosis, genital mutilation, complications from genital surgery, pelvic trauma (such as from a straddle injury caused by falling on the bars of a climbing frame, bicycle or gymnastics beam), hormonal imbalances, total hysterectomy, spinal cord injury, cauda equina syndrome, uterine embolisation, childbirth trauma (vaginal tearing through the use of forceps or suction or a large or unclosed episiotomy), vulvodynia and cardiovascular disease.

A common cause of situational anorgasmia, in both men and women, is the use of anti-depressants, particularly selective serotonin reuptake inhibitors (SSRIs). Though reporting of anorgasmia as a side effect of SSRIs is not precise, studies have found that 17–41% of users of such medications are affected by some form of sexual dysfunction.

Another cause of anorgasmia is opiate addiction, particularly to heroin.

About 15% of women report difficulties with orgasm, and as many as 10% of women in the United States have never climaxed. Only 29% of women always have orgasms with their partner.

The appearance of XX males can fall into one of three categories: 1) males that have normal internal and external genitalia, 2) males with external ambiguities, and 3) males that have both internal and external genital ambiguities (true hermaphrodites). External genital ambiguities can include hypospadias, micropenis, and clitoromegaly. On average, the appearance of XX males differs from that of an XY male in that they are smaller in height and weight. Most XX males have small testes, are sterile, and have an increase in maldescended testicles compared to XY males. Some XX male individuals have decreased amounts of body hair and decreased libido. Individuals with this condition sometimes have feminine characteristics, with varying degrees of gynecomastia but with no intra-abdominal Müllerian tissue. According to research at the University of Oklahoma health science centers, despite XX males exhibiting feminine characteristics, their behaviours are usually representative of masculinity in their culture.

At birth, the inner layer of the foreskin is sealed to the glans penis. The foreskin is usually non-retractable in early childhood, and can be as late as 18.

Medical associations advise not to retract the foreskin of an infant, in order to prevent scarring. Some argue that non-retractability may "be considered normal for males up to and including adolescence." Hill states that full retractability of the foreskin may not be achieved until late childhood or early adulthood. A Danish survey found that the mean age of first foreskin retraction is 10.4 years.

Rickwood, as well as other authors, has suggested that true phimosis is over-diagnosed due to failure to distinguish between normal developmental non-retractability and a pathological condition. Some authors use the terms "physiologic" and "pathologic" to distinguish between these types of phimosis; others use the term "non-retractile foreskin" to distinguish this developmental condition from pathologic phimosis.

In some cases a cause may not be clear, or it may be difficult to distinguish physiological phimosis from pathological if an infant appears to be in pain with urination or has obvious ballooning of the foreskin with urination or apparent discomfort. However, ballooning does not indicate urinary obstruction.

In women a comparable condition is known as "clitoral phimosis" whereby the clitoral hood cannot be retracted, limiting exposure of the glans clitoridis.

Phimosis is a condition in which the foreskin of the penis cannot be pulled back past the glans. A balloon-like swelling under the foreskin may occur with urination. In teenagers and adults, it may result in pain during an erection, but is otherwise not painful. Those affected are at greater risk of inflammation of the glans, known as balanitis, and other complications.

In young children, it is normal to not be able to pull back the foreskin. In more than 90% of cases, this inability resolves by the age of seven, and in 99% of cases by age 16. Occasionally, phimosis may be caused by an underlying condition such as scarring due to balanitis or balanitis xerotica obliterans. This can typically be diagnosed by seeing scarring of the opening of the foreskin.

Typically, it resolves without treatment by the age of three. Efforts to pull back the foreskin during the early years of a young male’s life should not be attempted. For those in whom the condition does not improve further time can be given or a steroid cream may be used to attempt to loosen the tight skin. If this method, combined with stretching exercises, is not effective, then other treatments such as circumcision may be recommended. A potential complication of phimosis is paraphimosis, where the tight foreskin becomes trapped behind the glans. The word is from the Greek "phimos" (φῑμός), meaning "muzzle".

A supplemental system of phenotypic grading that uses seven classes instead of the traditional three was proposed by pediatric endocrinologist Charmian A. Quigley et al. in 1995. The first six grades of the scale, grades 1 through 6, are differentiated by the degree of genital masculinization; grade 1 is indicated when the external genitalia is fully masculinized, grade 6 is indicated when the external genitalia is fully feminized, and grades 2 through 5 quantify four degrees of increasingly feminized genitalia that lie in the interim. Grade 7 is indistinguishable from grade 6 until puberty, and is thereafter differentiated by the presence of secondary terminal hair; grade 6 is indicated when secondary terminal hair is present, whereas grade 7 is indicated when it is absent. The Quigley scale can be used in conjunction with the traditional three classes of AIS to provide additional information regarding the degree of genital masculinization, and is particularly useful when the diagnosis is PAIS.

Partial androgen insensitivity syndrome is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to partially prevent the masculinization of the genitalia, but is not great enough to completely prevent genital masculinization. This includes any phenotype resulting from androgen insensitivity where the genitalia is partially, but not completely masculinized. Genital ambiguities are frequently detected during clinical examination at birth, and consequently, a PAIS diagnosis can be made during infancy as part of a differential diagnostic workup.

Pubertal undervirilization is common, including gynecomastia, decreased secondary terminal hair, and / or a high pitched voice. The phallic structure ranges from a penis with varying degrees of diminished size and hypospadias to a slightly enlarged clitoris. Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) are typically partially or fully developed. The prostate is typically small or impalpable. Müllerian remnants are rare, but have been reported.

The gonads in individuals with PAIS are testes, regardless of phenotype; during the embryonic stage of development, testes form in an androgen-independent process that occurs due to the influence of the SRY gene on the Y chromosome. Cryptorchidism is common, and carries with it a 50% risk of germ cell malignancy. If the testes are located intrascrotally, there may still be significant risk of germ cell malignancy; studies have not yet been published to assess this risk.

Predominantly male phenotypes vary in the degree of genital undermasculinization to include micropenis, chordee, scrotum, and / or pseudovaginal perineoscrotal hypospadias. Impotence may be fairly common, depending on phenotypic features; in one study of 15 males with PAIS, 80% of those interviewed indicated that they had some degree of impotence. Anejaculation appears to occur somewhat independently of impotence; some men are still able to ejaculate despite impotence, and others without erectile difficulties cannot. Predominantly female phenotypes include a variable degree of labial fusion and clitoromegaly. Ambiguous phenotypic states include a phallic structure that is intermediate between a clitoris and a penis, and a single perineal orifice that connects to both the urethra and the vagina (i.e. urogenital sinus). At birth, it may not be possible to immediately differentiate the external genitalia of individuals with PAIS as being either male or female, although the majority of individuals with PAIS are raised male.

Given the wide diversity of phenotypes associated with PAIS, the diagnosis is often further specified by assessing genital masculinization. Grades 2 through 5 of the Quigley scale quantify four degrees of increasingly feminized genitalia that correspond to PAIS.

Grade 2, the mildest form of PAIS, presents with a predominantly male phenotype that presents with minor signs of undermasculinized genitalia, such as isolated hypospadias, which can be severe. Hypospadias may manifest with a partially formed channel from the urethral opening to the glans. Until recently, it was thought that isolated micropenis was not a manifestation of PAIS. However, in 2010, two cases of PAIS manifesting with isolated micropenis were documented.

Grade 3, the most common phenotypic form of PAIS, features a predominantly male phenotype that is more severely undermasculinized, and typically presents with micropenis and pseudovaginal perineoscrotal hypospadias with scrotum.

Grade 4 presents with a gender ambiguous phenotype, including a phallic structure that is intermediate between a clitoris and a penis. The urethra typically opens into a common channel with the vagina (i.e. urogenital sinus).

Grade 5, the form of PAIS with the greatest degree of androgen insensitivity, presents with a mostly female phenotype, including separate urethral and vaginal orifices, but also shows signs of slight masculinization including mild clitoromegaly and / or partial labial fusion.

Previously, it was erroneously thought that individuals with PAIS were always infertile; at least one case report has been published that describes fertile men that fit the criteria for grade 2 PAIS (micropenis, penile hypospadias, and gynecomastia).

All forms of androgen insensitivity are associated with infertility, though exceptions have been reported for both the mild and partial forms.

PAIS is associated with a 50% risk of germ cell malignancy when the testes are undescended. If the testes are located intrascrotally, there may still be significant risk of germ cell malignancy; studies have not yet been published to assess this risk. Some men with PAIS may experience sexual dysfunction including impotence and anejaculation. A few AR mutations that cause PAIS are also associated with prostate and breast cancers.

Vaginal hypoplasia, a relatively frequent finding in CAIS and some forms of PAIS, is associated with sexual difficulties including vaginal penetration difficulties and dyspareunia.

At least one study indicates that individuals with an intersex condition may be more prone to psychological difficulties, due at least in part to parental attitudes and behaviors, and concludes that preventative long-term psychological counseling for parents as well as for affected individuals should be initiated at the time of diagnosis.

Lifespan is not thought to be affected by AIS.

The different grade of genital ambiguity is commonly measured by the Prader classification, which ranges, in ascending order of masculinisation, from 1: "female external genitalia with clitoromegaly" through 5: "pseudo-phallus looking like normal male external genitalia".

Frenulum breve may be complicated by tearing of the frenulum during sexual or other activity and is a cause of dyspareunia. It may lead to erroneous labelling of the sufferer as having psychosexual problems. The torn frenulum may result in healing with scar tissue that is less flexible after the incident causing further difficulties. However, this tearing can also solve the problem, healing such that the frenulum is longer and therefore no longer problematic. The diagnosis of frenulum breve is almost always confused with that of phimosis and a generally tight foreskin, since the symptom is difficulty retracting the foreskin. Most men with phimosis also have frenulum breve to a certain extent.

XX male syndrome is a rare congenital condition where an individual with a female genotype has phenotypically male characteristics that can vary between cases. In 90% of these individuals the syndrome is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, and results in the X chromosome containing the SRY gene, as opposed to the Y chromosome where it is normally found. When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. Less common are SRY-negative XX males which can be caused by a mutation in an autosomal or X chromosomal gene. The masculinization of XX males is variable.

This syndrome is diagnosed through various detection methods and occurs in approximately 1:20 000 newborn males, making it less common than Klinefelter syndrome. Treatment is medically unnecessary, although some individuals choose to undergo treatments to make them appear more male or female. It is also called de la Chapelle syndrome, for Albert de la Chapelle, who characterized it in 1972.

Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though deliberately induced clitoris enlargement as a form of female genital body modification is achieved through various uses of anabolic steroids, including testosterone, and may also be referred to as "clitoromegaly." Clitoromegaly is not the same as normal enlargement of the clitoris seen during sexual arousal.

Frenulum breve, or short frenulum, is a condition in which the frenulum of the penis, which is an elastic band of tissue under the glans penis that connects to the foreskin and helps contract it over the glans, is too short and thus restricts the movement of the foreskin. The frenulum should normally be sufficiently long and supple to allow for the full retraction of the foreskin so that it lies smoothly back on the shaft of the erect penis.

The penile frenulum is comparable to the tongue's frenulum between the tongue's lower surface and the lower jaw, or the frenulum between the upper lip and the outside of the upper gum.

Michelin tire baby syndrome (also known as "Folded skin with scarring"), is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. But it is a dangerous skin disease as it resides in the body rest of life, it can lead to death. They are reminiscent of those of Bibendum, the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects.

It was originally described by Ross in 1969.

Twenty cases of this disorder have been reported.

Post-vasectomy pain syndrome is a chronic and sometimes debilitating genital pain condition that may develop immediately or several years after vasectomy. Because this condition is a syndrome, there is no single treatment method, therefore efforts focus on mitigating/relieving the individual patient's specific pain. When pain in the epididymides is the primary symptom, post-vasectomy pain syndrome is often described as congestive epididymitis.

Any of the aforementioned pain conditions/syndromes can persist for years after vasectomy and affect as many as one in three vasectomized men. The range of PVPS pain can be mild/annoying to the less-likely extreme debilitating pain experienced by a smaller number of sufferers in this group. There is a continuum of pain severity between these two extremes. Pain is thought to be caused by any of the following, either singularly or in combination: testicular backpressure, overfull epididymides, chronic inflammation, fibrosis, sperm granulomas, and nerve entrapment. Pain can be present continuously in the form of orchialgia and/or congestive epididymitis or it can be situational, such as pain during intercourse, ejaculation or physical exertion.

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative syndrome that is associated with a particular mutation of the androgen receptor's polyglutamine tract called a trinucleotide repeat expansion. SBMA results when the length of the polyglutamine tract exceeds 40 repetitions.

Although technically a variant of MAIS, SBMA's presentation is not typical of androgen insensitivity; symptoms do not occur until adulthood and include neuromuscular defects as well as signs of androgen inaction. Neuromuscular symptoms include progressive proximal muscle weakness, atrophy, and fasciculations. Symptoms of androgen insensitivity experienced by men with SBMA are also progressive and include testicular atrophy, severe oligospermia or azoospermia, gynecomastia, and feminized skin changes despite elevated androgen levels. Disease onset, which usually affects the proximal musculature first, occurs in the third to fifth decades of life, and is often preceded by muscular cramps on exertion, tremor of the hands, and elevated muscle creatine kinase. SBMA is often misdiagnosed as amyotrophic lateral sclerosis (ALS) (also known as Lou Gehrig's disease).

The symptoms of SBMA are thought to be brought about by two simultaneous pathways involving the toxic misfolding of proteins and loss of AR functionality. The polyglutamine tract in affected pedigrees tends to increase in length over generations, a phenomenon known as "anticipation", leading to an increase in the severity of the disease as well as a decrease in the age of onset for each subsequent generation of a family affected by SBMA.

Individuals with mild (or minimal) androgen insensitivity syndrome (grade 1 on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the mildest and least known form of androgen insensitivity syndrome.

The existence of a variant of androgen insensitivity that solely affected spermatogenesis was theoretical at first. Cases of phenotypically normal males with isolated spermatogenic defect due to AR mutation were first detected as the result of male infertility evaluations. Until then, early evidence in support of the existence of MAIS was limited to cases involving a mild defect in virilization, although some of these early cases made allowances for some degree of impairment of genital masculinization, such as hypospadias or micropenis. It is estimated that 2-3% of infertile men have AR gene mutations.

Examples of MAIS phenotypes include isolated infertility (oligospermia or azoospermia), mild gynecomastia in young adulthood, decreased secondary terminal hair, high pitched voice, or minor hypospadias repair in childhood. The external male genitalia (penis, scrotum, and urethra) are otherwise normal in individuals with MAIS. Internal genitalia, including Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) and the prostate, is also normal, although the bitesticular volume of infertile men (both with and without MAIS) is diminished; male infertility is associated with reduced bitesticular volume, varicocele, retractile testes, low ejaculate volume, male accessory gland infections (MAGI), and mumps orchitis. The incidence of these features in infertile men with MAIS is similar to that of infertile men without MAIS. MAIS is not associated with Müllerian remnants.

Signs of Seaver Cassidy syndrome include several facial disorders, including hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, a broad nasal bridge, malar hypoplasia, a thin upper lip, a smooth philtrum, and low-set, prominent ears. Males with Seaver Cassidy syndrome may also experience an underdeveloped shawl scrotum and cryptorchidism. Skeletal anomalies, such genu valgum, hyperextended joints, or cubitus valgus, may also be present.