(Also called pseudovaginal perineoscrotal hypospadias, when the patient begins developing male phenotype as puberty occurs.) Rate of Occurence: no estimate Genes Involved: SRD5A2 — locus 2p23.1; codes for 3-oxo-5-alpha-steroid 4-dehydrogenase 2, responsible for the conversion of testosterone into the three times as androgenically potent steroid dihydrotestosterone (DHT). — Mutations — OMIM Entry — Clinical reports on patients: (X) (X) (X) (X) — Medical Slide — Endocrine Profile: normal to high testosterone levels, increased FSH and LH, low to no DHT — Intersex: Only males are intersex. Female development is not affected by lack of DHT. In utero, DHT is solely responsible for external genitals’ formation and testosterone is not. This is why males with 5ARD present an external female phenotype at birth, sometimes with clitoromegaly sometimes with a normal-sized clitoris. Testes are still present, though may be internal, as anti-Mullerian hormone still has its ability to function. While presenting a female phenotype, of course these patients have no uterus or ovaries so they also lack a cervix and have a blind vagina. As puberty comes and drastically increases the male’s testosterone levels, the testes descend, penis grows, and male development finally takes place. Some patients with 5ARD will not produce enough testosterone for that development and may remain with a female phenotype. 5ARD patients in certain tribes are locally called “guevedoces,” but that is considered rude if you are outside of their culture. 5ARD males are just males with delayed sexual development. No 5ARD patient has periods, produces ova, or has Mullerian (female) structures. — From an article on 5ARD patients:

“Guevedoces” is a localized term to areas where populations are more prone to 5ARD.

(Alternate general information link) Rate of Occurence: between 1 in 17,000 and 1 in 50,000 boys Genes Involved: Unintended inheritance of two extra X chromosomes from a dysfunctionally created gamete. Health Concerns Associated With XXXY Syndrome: — “48,XXXY Syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.” — “Most boys and men with 48,XXXY Syndrome have mild intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. The problems with speech and communication can contribute to behavioral issues, including irritability and outbursts or temper tantrums. Boys and men with 48,XXXY Syndrome tend to have anxiety, a short attention span, and impaired social skills.” — “48,XXXY Syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected boys and men tend to be taller than their peers, with an average adult height of over 6 feet.” — “Other physical differences associated with 48,XXXY Syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds). However, some boys and men with 48,XXXY Syndrome do not have these differences in their facial features.” — “48,XXXY Syndrome disrupts male sexual development. The penis is shorter than usual, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes typically do not produce sperm, so most men with this condition are infertile.” — (No OMIM Entry found) — Clinical reports on patients: (X) (X) (X) <- Last link includes info about other intersex aneuplodies like XXYY and XXXYY, etc. — Intersex: Occurs in males only. The Y chromosome is there and functions, producing anti-Mullerian ability. Regardless of the number of X chromosomes, one “no” in the way of anti-Mullerian development from even a single Y causes male development. They still have Wolffian structures, the coding to produce spermatozoa, and a male phenotype, though they are infertile. The penis may be smaller and the testes may be undescended. They never have Mullerian structures, menstruate, or produce ova. — Guys with XXXY Syndrome: (X)

(Alternate general information link) Rate of Occurrence: between 1 in 18,000 and 1 in 40,000 boys Genes Involved: Due to defects in the parents’ gamete production, inheritance of an extra X and an extra Y from a defective gamete. Health Concerns Associated With XXYY Syndrome: — “48,XXYY Syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males.” — “48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement (gynecomastia). Because their testes do not function normally, males with 48, XXYY Syndrome have an inability to father children (infertility).” — “48,XXYY Syndrome can affect other parts of the body as well. Males with 48,XXYY Syndrome are often taller than other males their age with an average adult height of 6 feet 4 inches (193 cm). They tend to develop a tremor that typically starts in adolescence and increases with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY Syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, and congenital heart defects.” — “Most males with 48,XXYY Syndrome have an IQ that ranges from 70–80 with some degree of difficulty with speech and language development. Learning disabilities, especially those that are language-based, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY Syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and autism spectrum disorder, which affects communication and social interaction.” — (No OMIM Entry found) — Clinical reports on patients: (X) (X) (X) — Intersex: Again, because of the presence of at least one non-mutated Y chromosome, only males have XXYY. No Mullerian structures, no ova production. Wolffian structures are present. — Guys with XXYY Syndrome: (X)

That should just about cover it for sex chromosome aneuploidies. We can infer from all this information that they aren’t causing a third sex and instead cause many health concerns no matter the amount of chromosomes or combinations.

Rate of Occurence: unknown Genes Involved: In 80–80% of cases, unnatural translocation of SRY onto an arm of an X during father’s spermatogenesis. The other cases include mutations of SOX9, SOX3, RSPO1 and WNT4, all important genes in sex development. — OMIM Entry (disregard ovotestis-related info here, as that only applies to “nonclassical” De La Chapelle Syndrome that manifests as ovotesticular disorder) — Clinical reports on patients: (X) (X) — In-Depth View and Treatment — Medical Slide — Intersex: De La Chapelle Syndrome only occurs in females. It is intersex only because the patient is not actually male. While testes are present, they are very small and unable to produce sperm. The person does not produce ova either. Because this is a female disorder, some breast development may take place and there is lower-than-average testosterone production. The patient may be given testosterone HRT to help with prevention of gynecomastia and influence secondary sex development, if wished.

And with that we have covered all intersex disorders that I have been able to find.