Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":11,"sourceGroups":{"omim":11,"orphanet":0,"published":0}},"features":[{"hpoId":"HP:0000027","label":"Azoospermia","primary":false},{"hpoId":"HP:0000813","label":"Bicornuate uterus","primary":false},{"hpoId":"HP:0008665","label":"Clitoral hypertrophy","primary":false},{"hpoId":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","primary":false},{"hpoId":"HP:0011969","label":"Elevated circulating luteinizing hormone level","primary":false},{"hpoId":"HP:0000771","label":"Gynecomastia","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0012861","label":"Ovotestis","primary":false},{"hpoId":"HP:0012245","label":"Sex reversal","primary":false},{"hpoId":"HP:0000098","label":"Tall stature","primary":false},{"hpoId":"HP:0010459","label":"True hermaphroditism","primary":false}],"ledeHtml":"46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia. They generally have small testes and may also have other features such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female.","mondoId":"MONDO:0100250","records":[{"frequencyKind":"reported","key":"1683783acfeb9617e0e3f2c91faeb5c5726d8b5e1d0fd08d805f78527f0beb96","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0011969","is_excluded":false,"label":"Elevated circulating luteinizing hormone level","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"21bea44855a83aff18291511d5c1ecb219ca3b366da0dee6fd8cb2ab1511dea1","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012245","is_excluded":false,"label":"Sex reversal","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"283b50d7d870a26079cf1015477e58937f9c04912cd34802637dba4738df6507","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000813","is_excluded":false,"label":"Bicornuate uterus","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"31391ca2c4b89e854823f4df990de3e043ed9f6d307b46791e634e00444123e4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000027","is_excluded":false,"label":"Azoospermia","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"55de5f5e7a65190291cbaaec178d1b2a6af0f7e703be64438c55fba146d1ad91","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000098","is_excluded":false,"label":"Tall stature","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ac625fb43ff63b59c591e1d7e762970f00d0243db5cb6ebba2553cfcfb800b2e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0012861","is_excluded":false,"label":"Ovotestis","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c6625f47548fd940a3cbc97e63c73a58c130df54b16e7b3b2c1894d6284a259e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010459","is_excluded":false,"label":"True hermaphroditism","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d637bb9cfd7439a8aa5ad395ed49f438d2924b6eb105d6aa01a5394a530a7e6c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d9e08fe0011c2a64cf3e3a29004b38aa68470dcd052d9341f3704da5473691eb","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000771","is_excluded":false,"label":"Gynecomastia","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"db8fbbe2bdef141bc7a6d957f3454cd80c1447fed4e0421b1f0438e430ac2b68","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008232","is_excluded":false,"label":"Elevated circulating follicle stimulating hormone level","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f32ed42f16992eeccb449827d557087c624bad68a492ce81fa3cac63126878b4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:400045","disease_name":"46XX sex reversal 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"OMIM:400045","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male-typical or female-typical sex characteristics. Females usually have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY).
The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. The sex-determining region Y protein causes a fetus to develop as a male.
In about 80 percent of individuals with 46,XX testicular difference of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The translocation causes the SRY gene to be misplaced, almost always onto an X chromosome. If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is called SRY-positive 46,XX testicular difference of sex development.
About 20 percent of people with 46,XX testicular difference of sex development do not have the SRY gene. This form of the condition is called SRY-negative 46,XX testicular difference of sex development. The cause of the condition in these individuals is often unknown, although changes affecting other genes involved in the development of sex characteristics have been identified in a small number of people with the condition. Individuals with SRY-negative 46,XX testicular difference of sex development are more likely to have genitalia that do not clearly look male or female than are people with the SRY-positive form.
","key":"forms","title":"What causes 46,XX testicular difference of sex development?"},{"bodyHtml":"At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this condition are usually shorter than average for males and are unable to have children (infertile).
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"46xx-testicular-difference-of-sex-development","sourceDocuments":[{"name":"46,XX testicular difference of sex development","reviewed":"2022-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:57.217486+00:00","label":"Causes","pageSha256":"72b76cde80189083a4e8229d13de317c27b777e09d70994c4a65bcbccf5768be","sourceUrl":"https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"46,XX testicular difference of sex development"},"schemaVersion":1}