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 20
46, Xy Female 20 71
46, Xy Dsd 20
Xy Female 20

Classifications:



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UMLS 71 C0432470

Summaries for 46, Xy Disorders of Sexual Development

GARD : 20 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 leydig cell hypoplasia, type i and hypogonadotropic hypogonadism 23 without anosmia. An important gene associated with 46, Xy Disorders of Sexual Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Affiliated tissues include uterus, testes and testis.

Related Diseases for 46, Xy Disorders of Sexual Development

Diseases in the Disorder 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 top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia, type i 11.8
2 hypogonadotropic hypogonadism 23 without anosmia 11.6
3 leydig cell hypoplasia 11.5
4 syndrome with 46,xy disorder of sex development 11.5
5 46,xy sex reversal 1 11.3
6 46,xy disorder of sex development due to impaired androgen production 11.3
7 pseudovaginal perineoscrotal hypospadias 11.3
8 genetic 46,xy disorder of sex development of endocrine origin 11.3
9 genetic 46,xy disorder of sex development 11.3
10 46,xy disorder of sex development of gynecological interest 11.3
11 46,xy disorder of sex development due to a cholesterol synthesis defect 11.3
12 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors 11.3
13 46,xy disorder of sex development of endocrine origin 11.3
14 46,xy disorder of sex development due to testicular steroidogenesis defect 11.3
15 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect 11.3
16 46,xy disorder of sex development due to a testosterone synthesis defect 11.3
17 46,xy sex reversal 10.5
18 disorder of sexual development 10.4
19 penis agenesis 10.4
20 androgen insensitivity syndrome 10.3
21 gonadal dysgenesis 10.3
22 amenorrhea 10.3
23 46,xy sex reversal 3 10.3
24 complete androgen insensitivity syndrome 10.3
25 lipoid congenital adrenal hyperplasia 10.2
26 in situ carcinoma 10.2
27 cryptorchidism, unilateral or bilateral 10.2
28 hypospadias 10.2
29 hypogonadism 10.1
30 turner syndrome 10.1
31 nonsyndromic disorders of testicular development 10.1
32 aniridia 1 10.1
33 atherosclerosis susceptibility 10.1
34 denys-drash syndrome 10.1
35 46,xy sex reversal 11 10.1
36 gonadoblastoma 10.1
37 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.1
38 mirage syndrome 10.1
39 inguinal hernia 10.1
40 acquired thrombocytopenia 10.1
41 hyperandrogenism 10.1
42 thrombocytopenia 10.1
43 hermaphroditism 10.1
44 pseudohermaphroditism 10.1
45 dysgerminoma 10.1
46 anorchia 10.1
47 germ cells tumors 10.1
48 46,xy partial gonadal dysgenesis 10.1
49 frasier syndrome 10.0
50 hirschsprung disease 1 10.0

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:

40
Uterus, Testes, Testis

Publications for 46, Xy Disorders of Sexual Development

Articles related to 46, Xy Disorders of Sexual Development:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients. 61
33586216 2021
2
Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland. 61
32497951 2020
3
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review. 61
32780953 2020
4
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. 61
32141698 2020
5
Fetal Sex Results of Noninvasive Prenatal Testing and Differences With Ultrasonography. 61
32282607 2020
6
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient. 61
31361042 2019
7
First Report of Concurrent Germ Cell and Epithelial Tumors in Ovotestes of a 46,XY Female Patient. 61
31219736 2019
8
Male fertility preservation in DSD, XXY, pre-gonadotoxic treatments - Update, methods, ethical issues, current outcomes, future directions. 61
30718080 2019
9
Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. 61
30388241 2019
10
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
11
[Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene]. 61
30512150 2018
12
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. 61
30032139 2018
13
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
14
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. 61
29582157 2018
15
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations. 61
28708305 2017
16
A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. 61
28617986 2017
17
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. 61
28544750 2017
18
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
19
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. 61
28787711 2017
20
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
21
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report. 61
30383953 2016
22
Gender identity and gender of rearing in 46 XY disorders of sexual development. 61
27366722 2016
23
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. 61
27114306 2016
24
Clinical, hormonal and radiological profile of 46XY disorders of sexual development. 61
27186544 2016
25
Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure? 61
26787392 2016
26
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
27
[Progress in the molecular genetic mechanism of gonadoblastoma]. 61
26582524 2015
28
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. 61
26097044 2015
29
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center. 61
26689524 2015
30
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
31
Mutational screening of the NR5A1 in azoospermia. 61
24750329 2015
32
A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis. 61
25660412 2015
33
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. 61
26871559 2015
34
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. 61
25187804 2014
35
The effect of hormone therapy on biochemical and ultrasound parameters associated with atherosclerosis in 46,XY DSD individuals with female phenotype. 61
24911331 2014
36
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. 61
25079470 2014
37
A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent. 61
24231572 2014
38
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis. 61
23624391 2013
39
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. 61
23299922 2013
40
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. 61
23686794 2013
41
A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome. 61
24186597 2013
42
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
43
[SRY gene analysis for a case with sex reversal syndrome]. 61
23042397 2012
44
Defects in androgen biosynthesis causing 46,XY disorders of sexual development. 61
23044879 2012
45
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene. 61
22876557 2012
46
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. 61
22876553 2012
47
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
48
Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency. 61
21550081 2011
49
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. 61
21242195 2011
50
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development. 61
21344134 2011

Variations for 46, Xy Disorders of Sexual Development

Expression for 46, Xy Disorders of Sexual Development

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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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57 OMIM® (Updated 05-Mar-2021)
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72 UMLS via Orphanet
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