SRXY11
MCID: 46X079
MIFTS: 39

46,xy Sex Reversal 11 (SRXY11)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Sex Reversal 11

MalaCards integrated aliases for 46,xy Sex Reversal 11:

Name: 46,xy Sex Reversal 11 56 6
Testicular Regression Syndrome 56 58 54
Trs 56 58
Embryonic Testicular Regression Syndrome 58
Xy Gonadal Agenesis/dysgenesis Syndrome 56
Testicular Regression Syndrome; Trs 56
Testicular Regression, Embryonic 56
Xy Gonadal Agenesis Syndrome 58
Vanishing Testes Syndrome 58
Vanishing Testis Syndrome 58
46, Xy Sex Reversal 11 56
Anorchia, Familial 56
Srxy11 56
Etrs 58

Characteristics:

Orphanet epidemiological data:

58
testicular regression syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Miscellaneous:
clinical variability
sex-limited autosomal dominant inheritance
incomplete penetrance has been observed
46,xy individuals may present as male or female

Inheritance:
autosomal dominant (sex limited)


HPO:

31
46,xy sex reversal 11:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 273250
OMIM Phenotypic Series 56 PS400044
MESH via Orphanet 44 C537770
ICD10 via Orphanet 33 Q55.0
UMLS via Orphanet 72 C0266427 C0405582 C1261504
Orphanet 58 ORPHA983
MedGen 41 C0266427

Summaries for 46,xy Sex Reversal 11

OMIM : 56 SRXY11 is characterized by a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity depending on the duration of normal testicular function prior to the loss of testicular tissue. Approximately half of patients present with micropenis and bilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia (da Silva et al., 2019; McElreavey et al., 2020). The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984). (273250)

MalaCards based summary : 46,xy Sex Reversal 11, also known as testicular regression syndrome, is related to gonadal dysgenesis and spastic paraplegia 20, autosomal recessive. An important gene associated with 46,xy Sex Reversal 11 is DHX37 (DEAH-Box Helicase 37). The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and uterus, and related phenotypes are decreased fertility and hypoplasia of penis

Related Diseases for 46,xy Sex Reversal 11

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4 46,xy Sex Reversal 7
46,xy Sex Reversal 11 46,xx Sex Reversal 2
46,xy Sex Reversal 2 46,xx Sex Reversal 3
46,xy Sex Reversal 1 46,xy Sex Reversal 3
46,xy Sex Reversal 5 46,xy Sex Reversal 6
46,xy Sex Reversal 8 46,xy Sex Reversal 9
46,xy Sex Reversal 10 46,xx Sex Reversal 4
46,xx Sex Reversal 5 46,xx Sex Reversal
46,xy Sex Reversal

Diseases related to 46,xy Sex Reversal 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 254)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 28.9 SRY DHX37
2 spastic paraplegia 20, autosomal recessive 11.3
3 swine influenza 11.2
4 somatization disorder 11.2
5 autism 10.4
6 autism spectrum disorder 10.3
7 personality disorder 10.3
8 autosomal recessive cerebellar ataxia 10.3
9 cerebellar degeneration 10.3
10 paraneoplastic cerebellar degeneration 10.3
11 avoidant personality disorder 10.3
12 ovarian cancer 10.2
13 pervasive developmental disorder 10.2
14 eating disorder 10.2
15 scleroderma, familial progressive 10.2
16 chronic ulcer of skin 10.2
17 placental insufficiency 10.2
18 periodontitis 10.2
19 anxiety 10.2
20 post-traumatic stress disorder 10.2
21 tricuspid valve insufficiency 10.2
22 acute stress disorder 10.2
23 gonadal agenesis 10.1
24 lymphoma, hodgkin, classic 10.1
25 ataxia and polyneuropathy, adult-onset 10.1
26 bulimia nervosa 10.1
27 herpes simplex 10.1
28 huntington disease 10.1
29 anorexia nervosa 10.1
30 human immunodeficiency virus type 1 10.1
31 major affective disorder 8 10.1
32 major affective disorder 9 10.1
33 premature ejaculation 10.1
34 hypothyroidism 10.1
35 severe acute respiratory syndrome 10.1
36 bipolar disorder 10.1
37 severe combined immunodeficiency 10.1
38 trichorhinophalangeal syndrome 10.1
39 cryptorchidism, unilateral or bilateral 10.0
40 anorchia 10.0
41 autoimmune disease 10.0
42 attention deficit-hyperactivity disorder 10.0
43 schizophrenia 10.0
44 thyroid hormone resistance, generalized, autosomal dominant 10.0
45 dubin-johnson syndrome 10.0
46 graves disease 1 10.0
47 branchiootic syndrome 1 10.0
48 microvascular complications of diabetes 5 10.0
49 aspergillosis 10.0
50 generalized anxiety disorder 10.0

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 11:



Diseases related to 46,xy Sex Reversal 11

Symptoms & Phenotypes for 46,xy Sex Reversal 11

Human phenotypes related to 46,xy Sex Reversal 11:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
2 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
3 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
4 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
5 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
6 absent testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010469
7 abnormality of male internal genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000022
8 abnormal morphology of female internal genitalia 31 hallmark (90%) HP:0000008
9 agonadism 31 hallmark (90%) HP:0008633
10 abnormality of the face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000271
11 abnormality of female internal genitalia 58 Very frequent (99-80%)
12 aplasia/hypoplasia of the testes 58 Very frequent (99-80%)
13 absent gonadal tissue 58 Very frequent (99-80%)
14 abnormal internal genitalia 31 HP:0000812
15 vanishing testis 31 HP:0012870

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism
nonpalpable testes
small unilateral testis
epididymis or epididymal-like structures
vas deferens present (rare)
more
Genitourinary External Genitalia Female:
female-appearing external genitalia (in 46,xy individuals)
partial fusion of labia minora (in 46,xy individuals)
poorly developed labia (in 46,xy individuals)
ambiguous genitalia (in 46,xy individuals)

Endocrine Features:
absent puberty
primary amenorrhea (in female-appearing 46,xy individuals)

Genitourinary External Genitalia Male:
micropenis
hypospadias (rare)

Genitourinary Internal Genitalia Female:
vagina present or absent (in 46,xy individuals)
vaginal septum (rare, in 46,xy individuals)
urogenital sinus (in 46,xy individuals)
absent uterus (in 46,xy individuals)
uterus didelphys (rare, in 46,xy individuals)
more
Laboratory Abnormalities:
elevated luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)
low or low-normal testosterone
low anti-mullerian hormone (amh)

Clinical features from OMIM:

273250

Drugs & Therapeutics for 46,xy Sex Reversal 11

Drugs for 46,xy Sex Reversal 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
4
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
5 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
7
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
8
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
9 Methylprednisolone Acetate Phase 2
10
Propranolol Approved, Investigational 525-66-6 4946
11 Adrenergic beta-Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Phase II Randomized Non-comparative Study of SC Tocilizumab Associated With IV Pulse Steroid Versus IV Pulse Steroid Alone for the Treatment of Acute Anterior Ischemic Optic Neuropathy Associated With Giant Cell Arteritis Not yet recruiting NCT04239196 Phase 2 tocilizumab and IV steroids combination
2 The Swedish Essential Tremor (SWEET) Trial - A Multicentre Randomized Controlled Trial of Deep Brain Stimulation for Essential Tremor Recruiting NCT03832712 Best Medical Treatment

Search NIH Clinical Center for 46,xy Sex Reversal 11

Genetic Tests for 46,xy Sex Reversal 11

Anatomical Context for 46,xy Sex Reversal 11

MalaCards organs/tissues related to 46,xy Sex Reversal 11:

40
Testis, Testes, Uterus, Breast, Brain, Bone

Publications for 46,xy Sex Reversal 11

Articles related to 46,xy Sex Reversal 11:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. 56 61 6
31337883 2020
2
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. 6 56 61
31287541 2019
3
Embryonic testicular regression syndrome and severe mental retardation in sibs. 61 56
3879148 1985
4
Embryonic testicular regression syndrome: variable phenotypic expression in siblings. 61 56
7400886 1980
5
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. 56
31745530 2019
6
Postnatal testicular regression mircopenis and microcephaly: conformation of a new syndrome? 56
19288550 2009
7
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome? 56
11992480 2002
8
Testicular regression in a patient with virilized female phenotype. 56
6437223 1984
9
Gonadal agenesis in a phenotypically normal female with positive H-Y antigen. 56
7239525 1981
10
Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. 56
834405 1977
11
Familial congenital anorchia. 56
239779 1975
12
The XY gonadal agenesis syndrome. 56
4774539 1973
13
The vanishing testis. 56
4186283 1969
14
Congenital absence of hypoplasia of the endocrine glands. 56
4918329 1969
15
Severe Degenerative Changes in Cryptorchid Testes in Japanese Black Cattle. 61
32096446 2020
16
TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. 61
31013155 2019
17
Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review. 61
29124402 2018
18
Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. 61
29353265 2018
19
Re: Is Routine Excision of Testicular Remnants in Testicular Regression Syndrome Indicated? 61
27979565 2017
20
Response to letter to the editor re 'Is routine excision of testicular remnants in testicular regression syndrome indicated?' 61
27570094 2016
21
Re: Nataraja RM Asher CM, Nash R, Murphy FL. Is routine excision of testicular remnants in testicular regression syndrome indicated? J Pediatr Urol 2015;11:151.e1-5. 61
27567374 2016
22
Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development. 61
27079915 2016
23
Is routine excision of testicular remnants in testicular regression syndrome indicated? 61
25913475 2015
24
The investigation of quality of life in 87 Chinese patients with disorders of sex development. 61
26075230 2015
25
Vanishing testis syndrome: report of two cases. 61
25302234 2014
26
[Embryonic testicular regression syndrome: report of 6 cases]. 61
25489355 2014
27
Testicular Regression Syndrome: a case report. 61
31528590 2012
28
Vanishing testes: a literature review. 61
22985611 2012
29
The testicular regression syndrome--do remnants require routine excision? 61
21292092 2011
30
A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies. 61
19617372 2009
31
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. 61
17940071 2007
32
[Diagnostic value of the gonadal biopsy in the disorders of sex development]. 61
18257373 2007
33
[Prenatal diagnosis of two pregnancies with risk of chromosomal disorders]. 61
17725307 2007
34
Natural history of testicular regression syndrome and consequences for clinical management. 61
18947736 2007
35
[Vanishing testis syndrome and testicular regression syndrome]. 61
16817480 2006
36
Histopathological features of testicular regression syndrome: relation to patient age and implications for management. 61
16908461 2006
37
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. 54
16106197 2005
38
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). 61
17312771 2005
39
Testicular regression syndrome: a clinical and pathologic study of 11 cases. 61
10782149 2000
40
Embryonic testicular regression syndrome: a case report. 61
10443101 1999
41
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 61
9521592 1998
42
A case of homosexual murder: a victim with testicular regression syndrome. 61
9436369 1997
43
A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs. 61
9363668 1997
44
Ante-natal testicular torsion: only one cause of the testicular regression syndrome? 61
8632401 1996
45
[Testicular regression syndrome]. 61
7757776 1993
46
[Unilateral anorchidism or monorchidism]. 61
1341289 1992
47
Testicular regression syndrome--a pathological study of 77 cases. 61
1916702 1991
48
Testicular regression syndrome. A case report. 61
1941794 1991
49
[Familial testicular regression syndrome]. 61
2598069 1989
50
Fibroblast androgen receptors in patients with genitourinary anomalies. 61
6501082 1984

Variations for 46,xy Sex Reversal 11

ClinVar genetic disease variations for 46,xy Sex Reversal 11:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX37 NM_032656.4(DHX37):c.911C>T (p.Thr304Met)SNV Pathogenic 869419 12:125460034-125460034 12:124975488-124975488
2 DHX37 NM_032656.4(DHX37):c.923G>A (p.Arg308Gln)SNV Pathogenic 869420 12:125460022-125460022 12:124975476-124975476
3 DHX37 NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp)SNV Pathogenic 869421 12:125448965-125448965 12:124964419-124964419
4 DHX37 NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)SNV Pathogenic 869422 12:125449504-125449504 12:124964958-124964958
5 DHX37 NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln)SNV Pathogenic 869423 12:125448964-125448964 12:124964418-124964418

Expression for 46,xy Sex Reversal 11

Search GEO for disease gene expression data for 46,xy Sex Reversal 11.

Pathways for 46,xy Sex Reversal 11

GO Terms for 46,xy Sex Reversal 11

Sources for 46,xy Sex Reversal 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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