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 53
46, Xy Female 53 72
46, Xy Dsd 53
Xy Female 53

Classifications:



External Ids:

UMLS 72 C0432470

Summaries for 46, Xy Disorders of Sexual Development

NIH Rare Diseases : 53 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 numeric sex chromosome variations. 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 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect family:

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 49)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 1 11.9
2 numeric sex chromosome variations 11.5
3 syndrome with 46,xy disorder of sex development 10.4
4 androgen insensitivity syndrome 10.3
5 gonadal dysgenesis 10.3
6 46 xy gonadal dysgenesis 10.3
7 pseudovaginal perineoscrotal hypospadias 10.2
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 5-alpha reductase deficiency 10.1
20 campomelic dysplasia 10.1
21 gonadoblastoma 10.1
22 47,xyy 10.1
23 vesicoureteral reflux 1 10.0
24 genitopalatocardiac syndrome 10.0
25 muscular dystrophy, duchenne type 10.0
26 omphalocele 10.0
27 cloacal exstrophy 10.0
28 short bowel syndrome 10.0
29 amenorrhea 10.0
30 hypogonadism 10.0
31 turner syndrome 10.0
32 hypogonadotropism 10.0
33 muscular dystrophy 10.0
34 46,xy sex reversal 4 9.8
35 retinoblastoma 9.8
36 lipoid congenital adrenal hyperplasia 9.8
37 46,xy sex reversal 7 9.8
38 endodermal sinus tumor 9.8
39 cystic lymphangioma 9.8
40 teratoma 9.8
41 embryonal carcinoma 9.8
42 seminoma 9.8
43 familial retinoblastoma 9.8
44 mature teratoma 9.8
45 nonsyndromic 46,xx testicular disorders of sex development 9.8
46 nonsyndromic disorders of testicular development 9.8
47 aortic coarctation 9.8
48 chromosomal triplication 9.8
49 lymphedema 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

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:

41
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 113)
# Title Authors PMID Year
1
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient. 38
31361042 2019
2
First Report of Concurrent Germ Cell and Epithelial Tumors in Ovotestes of a 46,XY Female Patient. 38
31219736 2019
3
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 38
31141803 2019
4
Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. 38
30388241 2019
5
Male fertility preservation in DSD, XXY, pre-gonadotoxic treatments - Update, methods, ethical issues, current outcomes, future directions. 38
30718080 2019
6
[Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene]. 38
30512150 2018
7
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. 38
30032139 2018
8
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. 38
29378242 2018
9
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. 38
29582157 2018
10
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations. 38
28708305 2017
11
A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. 38
28617986 2017
12
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. 38
28544750 2017
13
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. 38
28008861 2017
14
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. 38
28787711 2017
15
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. 38
27821113 2016
16
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report. 38
30383953 2016
17
Gender identity and gender of rearing in 46 XY disorders of sexual development. 38
27366722 2016
18
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. 38
27114306 2016
19
Clinical, hormonal and radiological profile of 46XY disorders of sexual development. 38
27186544 2016
20
Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure? 38
26787392 2016
21
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. 38
27917104 2016
22
[Progress in the molecular genetic mechanism of gonadoblastoma]. 38
26582524 2015
23
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. 38
26097044 2015
24
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center. 38
26689524 2015
25
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development. 38
25740850 2015
26
Mutational screening of the NR5A1 in azoospermia. 38
24750329 2015
27
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. 38
26871559 2015
28
A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis. 38
25660412 2015
29
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. 38
25187804 2014
30
The effect of hormone therapy on biochemical and ultrasound parameters associated with atherosclerosis in 46,XY DSD individuals with female phenotype. 38
24911331 2014
31
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. 38
25079470 2014
32
A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent. 38
24231572 2014
33
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis. 38
23624391 2013
34
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. 38
23299922 2013
35
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. 38
23686794 2013
36
A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome. 38
24186597 2013
37
Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report. 38
22889418 2013
38
Defects in androgen biosynthesis causing 46,XY disorders of sexual development. 38
23044879 2012
39
[SRY gene analysis for a case with sex reversal syndrome]. 38
23042397 2012
40
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene. 38
22876557 2012
41
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. 38
22815844 2012
42
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. 38
22876553 2012
43
Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency. 38
21550081 2011
44
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. 38
21242195 2011
45
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development. 38
21344134 2011
46
[Progress in researches on 46, XY disorders of sexual development]. 38
21404715 2011
47
P450c17 deficiency caused by compound heterozygosity for two novel mutations presenting as hypotension in early infancy. 38
21822006 2011
48
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development. 38
22272144 2011
49
Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia. 38
21691971 2011
50
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. 38
20302644 2010

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Sources for 46, Xy Disorders of Sexual Development

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