46,xx Sex Reversal 1

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OMIM 57 400045 Orphanet 59 ORPHA243 ORPHA2138 ORPHA393 MESH via Orphanet 45 D023961 D050090 D058531 ICD10 via Orphanet 34 Q99.1 Q56.0 UMLS via Orphanet 74 C0685837 C0949595 C2748895 C0266361 C0432475 C2936419 more

MedGen 42 C2748895 C3495659 MeSH 44 D023961 D050090 SNOMED-CT via HPO 69 48723006 204878001 204912007 204888000 236780002 21321009 37849005 205681004 38804009 83579008 95219002 17276009 69878008 271611007 103276001 15188001 343087000 95828007 8913004 123526007 400003000 86030004 312894000 78441005 62250003 85102008 51615001 123983008 237836003 373717006 166449002 276411001 34911001 18978002 70550008 more UMLS 73 C2748895 C2936419

NIH Rare Diseases : ⁵³ 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 premature ovarian failure 1 and hermaphroditism. An important gene associated with 46,xx Sex Reversal 1 is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Regulation of Androgen receptor activity and Ovarian steroidogenesis. Affiliated tissues include testes, ovary and uterus, and related phenotypes are gonadal dysgenesis and premature ovarian insufficiency

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.

OMIM : ⁵⁷ 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). 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)

UniProtKB/Swiss-Prot : ⁷⁵ 46,XX sex reversal 1: A condition in which male gonads develop in a genetic female (female to male sex reversal).

Wikipedia : ⁷⁶ XX male syndrome is a rare congenital condition where an individual with a female genotype has... more...

Clinical features from OMIM:

400045

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