MCID: 46X011
MIFTS: 20

46, Xy Disorders of Sexual Development

Categories: Endocrine diseases, Fetal diseases, 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 52
46, Xy Female 52 71
46, Xy Dsd 52
Xy Female 52

Classifications:



External Ids:

UMLS 71 C0432470

Summaries for 46, Xy Disorders of Sexual Development

NIH Rare Diseases : 52 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 sex reversal 1 and 46,xy sex reversal. An important gene associated with 46, Xy Disorders of Sexual Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include testes, uterus and testis.

Related Diseases for 46, Xy Disorders of Sexual Development

Diseases in the Disorders of Sexual Development family:

46, Xy Disorders of Sexual Development 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 1 11.9
2 46,xy sex reversal 11.9
3 numeric sex chromosome variations 11.5
4 disorders of sexual development 10.4
5 syndrome with 46,xy disorder of sex development 10.4
6 androgen insensitivity syndrome 10.3
7 gonadal dysgenesis 10.3
8 androgen insensitivity, partial 10.2
9 inguinal hernia 10.2
10 acquired thrombocytopenia 10.2
11 hermaphroditism 10.2
12 pseudohermaphroditism 10.2
13 infertility 10.2
14 anorchia 10.2
15 complete androgen insensitivity syndrome 10.2
16 dysgerminoma 10.2
17 cryptorchidism, unilateral or bilateral 10.1
18 hypospadias 10.1
19 campomelic dysplasia 10.1
20 gonadoblastoma 10.1
21 47,xyy 10.1
22 vesicoureteral reflux 1 10.0
23 genitopalatocardiac syndrome 10.0
24 muscular dystrophy, duchenne type 10.0
25 omphalocele 10.0
26 cloacal exstrophy 10.0
27 short bowel syndrome 10.0
28 amenorrhea 10.0
29 hypogonadism 10.0
30 turner syndrome 10.0
31 muscular dystrophy 10.0
32 coarctation of aorta 9.9
33 46,xy sex reversal 4 9.9
34 retinoblastoma 9.9
35 lipoid congenital adrenal hyperplasia 9.9
36 46,xy sex reversal 7 9.9
37 hereditary lymphedema i 9.9
38 endodermal sinus tumor 9.9
39 cystic lymphangioma 9.9
40 teratoma 9.9
41 embryonal carcinoma 9.9
42 seminoma 9.9
43 familial retinoblastoma 9.9
44 mature teratoma 9.9
45 nonsyndromic 46,xx testicular disorders of sex development 9.9
46 nonsyndromic disorders of testicular development 9.9
47 chromosomal triplication 9.9

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

Drugs for 46, Xy Disorders of Sexual Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 COPENHAGEN Minipuberty Study Active, not recruiting NCT02784184

Search 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:

40
Testes, Uterus, Testis, Ovary

Publications for 46, Xy Disorders of Sexual Development

Articles related to 46, Xy Disorders of Sexual Development:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland. 61
32497951 2020
2
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. 61
32141698 2020
3
Fetal Sex Results of Noninvasive Prenatal Testing and Differences With Ultrasonography. 61
32282607 2020
4
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient. 61
31361042 2019
5
First Report of Concurrent Germ Cell and Epithelial Tumors in Ovotestes of a 46,XY Female Patient. 61
31219736 2019
6
Male fertility preservation in DSD, XXY, pre-gonadotoxic treatments - Update, methods, ethical issues, current outcomes, future directions. 61
30718080 2019
7
Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. 61
30388241 2019
8
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 61
31141803 2019
9
[Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene]. 61
30512150 2018
10
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. 61
30032139 2018
11
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. 61
29378242 2018
12
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. 61
29582157 2018
13
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations. 61
28708305 2017
14
A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. 61
28617986 2017
15
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. 61
28544750 2017
16
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. 61
28008861 2017
17
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. 61
28787711 2017
18
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. 61
27821113 2016
19
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report. 61
30383953 2016
20
Gender identity and gender of rearing in 46 XY disorders of sexual development. 61
27366722 2016
21
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. 61
27114306 2016
22
Clinical, hormonal and radiological profile of 46XY disorders of sexual development. 61
27186544 2016
23
Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure? 61
26787392 2016
24
Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation. 61
27917104 2016
25
[Progress in the molecular genetic mechanism of gonadoblastoma]. 61
26582524 2015
26
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. 61
26097044 2015
27
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center. 61
26689524 2015
28
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development. 61
25740850 2015
29
Mutational screening of the NR5A1 in azoospermia. 61
24750329 2015
30
A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis. 61
25660412 2015
31
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. 61
26871559 2015
32
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. 61
25187804 2014
33
The effect of hormone therapy on biochemical and ultrasound parameters associated with atherosclerosis in 46,XY DSD individuals with female phenotype. 61
24911331 2014
34
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. 61
25079470 2014
35
A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent. 61
24231572 2014
36
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis. 61
23624391 2013
37
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. 61
23299922 2013
38
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. 61
23686794 2013
39
A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome. 61
24186597 2013
40
Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report. 61
22889418 2013
41
Defects in androgen biosynthesis causing 46,XY disorders of sexual development. 61
23044879 2012
42
[SRY gene analysis for a case with sex reversal syndrome]. 61
23042397 2012
43
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene. 61
22876557 2012
44
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. 61
22876553 2012
45
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. 61
22815844 2012
46
Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency. 61
21550081 2011
47
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. 61
21242195 2011
48
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development. 61
21344134 2011
49
[Progress in researches on 46, XY disorders of sexual development]. 61
21404715 2011
50
P450c17 deficiency caused by compound heterozygosity for two novel mutations presenting as hypotension in early infancy. 61
21822006 2011

Variations for 46, Xy Disorders of Sexual Development

Expression for 46, Xy Disorders of Sexual Development

Search GEO for disease gene expression data for 46, Xy Disorders of Sexual Development.

Pathways for 46, Xy Disorders of Sexual Development

GO Terms for 46, Xy Disorders of Sexual Development

Sources for 46, Xy Disorders of Sexual Development

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