MCID: 46X011
MIFTS: 18

46, Xy Disorders of Sexual Development

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for 46, Xy Disorders of Sexual Development

MalaCards integrated aliases for 46, Xy Disorders of Sexual Development:

Name: 46, Xy Disorders of Sexual Development 54
46, Xy Female 54 74
46, Xy Dsd 54
Xy Female 54

Classifications:



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UMLS 74 C0432470

Summaries for 46, Xy Disorders of Sexual Development

NIH Rare Diseases : 54 A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and reduced to no sperm production. Some individuals with 46, XY DSD have fully to underdeveloped female reproductive organs (e.g., uterus and fallopian tubes), while others do not. People with with 46, XY DSD may be raised as males or females. Treatment involves surgery and hormone replacement therapy. People with 46, XY DSD are at an increased risk for gonadal tumors and benefit from regular surveillance or surgery to remove abnormally developed gonads.

MalaCards based summary : 46, Xy Disorders of Sexual Development, also known as 46, xy female, is related to 46 xy gonadal dysgenesis and 46,xy sex reversal 1. An important gene associated with 46, Xy Disorders of Sexual Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Affiliated tissues include testes, uterus and ovary.

Related Diseases for 46, Xy Disorders of Sexual Development

Diseases related to 46, Xy Disorders of Sexual Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 46 xy gonadal dysgenesis 11.5
2 46,xy sex reversal 1 11.5
3 numeric sex chromosome variations 11.4
4 androgen insensitivity syndrome 10.2
5 inguinal hernia 10.2
6 hypospadias 10.2
7 sex development disorder 10.2
8 campomelic dysplasia 10.1
9 cloacal exstrophy 10.0
10 gonadal dysgenesis 10.0
11 dysgerminoma 10.0
12 complete androgen insensitivity syndrome 10.0
13 gonadoblastoma 9.8
14 turner syndrome 9.8

Graphical network of the top 20 diseases related to 46, Xy Disorders of Sexual Development:



Diseases related to 46, Xy Disorders of Sexual Development

Symptoms & Phenotypes for 46, Xy Disorders of Sexual Development

Drugs & Therapeutics for 46, Xy Disorders of Sexual Development

Search Clinical Trials , NIH Clinical Center for 46, Xy Disorders of Sexual Development

Genetic Tests for 46, Xy Disorders of Sexual Development

Anatomical Context for 46, Xy Disorders of Sexual Development

MalaCards organs/tissues related to 46, Xy Disorders of Sexual Development:

42
Testes, Uterus, Ovary, Testis

Publications for 46, Xy Disorders of Sexual Development

Articles related to 46, Xy Disorders of Sexual Development:

(show all 41)
# Title Authors Year
1
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. ( 29582157 )
2018
2
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. ( 30032139 )
2018
3
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign. ( 28008861 )
2017
4
A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. ( 28617986 )
2017
5
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center. ( 26689524 )
2015
6
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. ( 26871559 )
2015
7
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
8
A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent. ( 24231572 )
2014
9
A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome. ( 24186597 )
2013
10
Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report. ( 22889418 )
2013
11
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis. ( 23624391 )
2013
12
Defects in androgen biosynthesis causing 46,XY disorders of sexual development. ( 23044879 )
2012
13
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. ( 22815844 )
2012
14
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. ( 22876553 )
2012
15
Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia. ( 21691971 )
2011
16
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. ( 20302644 )
2010
17
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. ( 19425818 )
2010
18
Global gene profiling and comprehensive bioinformatics analysis of a 46,XY female with pericentric inversion of the Y chromosome. ( 20201967 )
2010
19
46, XY female with cloacal exstrophy and masculinization at puberty. ( 19592306 )
2009
20
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. ( 19513096 )
2009
21
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. ( 19269353 )
2009
22
Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene. ( 19728179 )
2009
23
Triplet pregnancy complicated with one hydatidiform mole and preeclampsia in a 46,XY female with gonadal dysgenesis. ( 17962110 )
2007
24
Genetic analysis of a family with 46,XY "female" associated with infertility. ( 16450583 )
2006
25
Identification of a novel mutation in the SRY gene in a 46, XY female patient. ( 16675314 )
2006
26
Semilobar holoprosencephaly in a 46,XY female fetus. ( 11746125 )
2001
27
46, XY female--a case report. ( 11242631 )
2001
28
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. ( 10852465 )
2000
29
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. ( 10323391 )
1999
30
A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father. ( 10670762 )
1999
31
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. ( 9150734 )
1997
32
Detection of SRY in a 46,XY female (Swyer's syndrome). ( 9249610 )
1997
33
Prepubertal gonadoblastoma in a 46,XY female patient with features of Turner syndrome. ( 8839718 )
1996
34
A case of premature menopause in an ovulating 46,XY female patient. ( 8979020 )
1996
35
Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. ( 1619028 )
1992
36
Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome. ( 1806465 )
1991
37
A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor. ( 1756501 )
1991
38
Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage. ( 3998935 )
1985
39
Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21. ( 6451706 )
1980
40
Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries. ( 7352285 )
1980
41
46, XY female: anti-androgenic effect of oral contraceptive? ( 4195806 )
1970

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