46,xx Sex Reversal 1 (SRXX1)

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Disease Ontology 12 DOID:0111761 OMIM 56 400045 KEGG 36 H00598 H00599 MeSH 43 D023961 D050090 MESH via Orphanet 44 D023961 D050090 D058531 ICD10 via Orphanet 33 Q56.0 Q99.1

UMLS via Orphanet 72 C0266361 C0432475 C0685837 C0949595 C2748895 C2936419 more Orphanet 58 ORPHA2138 ORPHA243 ORPHA393 MedGen 41 C2748895 C3495659 SNOMED-CT via HPO 68 103276001 123526007 123983008 15188001 166449002 17276009 18978002 204878001 204888000 204912007 205681004 21321009 236780002 237836003 248328003 271611007 276411001 312894000 31401003 343087000 34911001 373717006 37849005 38804009 400003000 425558002 4754008 48188009 48723006 51615001 62250003 69878008 70550008 78441005 80212005 83579008 85102008 86030004 8913004 95219002 95828007 more UMLS 71 C2748895 C2936419

NIH Rare Diseases : ⁵² 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous . Other common signs and symptoms include small testes , gynecomastia , infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias . Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome ) is misplaced onto the X chromosome . This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation ). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy .

MalaCards based summary : 46,xx Sex Reversal 1, also known as 46,xx testicular disorder of sex development, is related to 46,xx sex reversal and amenorrhea. An important gene associated with 46,xx Sex Reversal 1 is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Ovarian steroidogenesis and Regulation of Androgen receptor activity. Affiliated tissues include testes, ovary and breast, and related phenotypes are premature ovarian insufficiency and gonadal dysgenesis

Disease Ontology : ¹² A 46,XX sex reversal that has material basis in translocation of SRY onto the X chromosome.

Genetics Home Reference : ²⁵ 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities 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 (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity. 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 disorder are usually shorter than average for males and are unable to have children (infertile).

OMIM : ⁵⁶ A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites (Ahmad et al., 2012). 46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (van Niekerk and Retief, 1981). It is a genetically heterogeneous condition. (400045)

KEGG : ³⁶ 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.

UniProtKB/Swiss-Prot : ⁷³ 46,XX sex reversal 1: A condition in which male gonads develop in a genetic female (female to male sex reversal).

Wikipedia : ⁷⁴ XX male syndrome, also known as De la Chapelle syndrome, is a rare congenital intersex condition where... more...

Clinical features from OMIM:

400045

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