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46,XX testicular disorder of sex development

MedGen UID:
424734
Concept ID:
C2936419
Disease or Syndrome
Synonyms: 46, XX gonadal sex reversal; 46,XX testicular DSD; XX male syndrome; XX sex reversal
SNOMED CT: 46,XX testicular disorder of sex development (890089005); XX male syndrome (890089005); 46,XX gonadal dysgenesis (890089005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related gene: SRY
 
Monarch Initiative: MONDO:0100249
Orphanet: ORPHA393

Disease characteristics

Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency. [from GeneReviews]
Authors:
Emmanuèle C Délot  |  Eric J Vilain   view full author information

Additional description

From MedlinePlus Genetics
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. Affected children are typically raised as males and develop 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 condition are usually shorter than average for males and are unable to have children (infertile).  https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I
Sex Dev 2019;13(2):60-66. Epub 2019 Feb 9 doi: 10.1159/000496777. PMID: 30739115
Akinsal EC, Baydilli N, Demirtas A, Saatci C, Ekmekcioglu O
Int Braz J Urol 2017 Jul-Aug;43(4):770-775. doi: 10.1590/S1677-5538.IBJU.2016.0505. PMID: 28379671Free PMC Article
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Diagnosis

Shen H, Liu Y, Wang C, Wang R, Di Z, Huang X, Zhang H, Liu M
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Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB
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Tallapaka K, Venugopal V, Dalal A, Aggarwal S
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Therapy

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Prognosis

Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I
Sex Dev 2019;13(2):60-66. Epub 2019 Feb 9 doi: 10.1159/000496777. PMID: 30739115
Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB
Clin Genet 2019 Jan;95(1):172-176. Epub 2018 Oct 28 doi: 10.1111/cge.13459. PMID: 30294972

Clinical prediction guides

Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB
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Xia XY, Zhang C, Li TF, Wu QY, Li N, Li WW, Cui YX, Li XJ, Shi YC
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Recent systematic reviews

Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, Bellastella G, Arcaniolo D, De Sio M
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