MCID: PSD097
MIFTS: 31

Pseudohermaphroditism, Male, with Gynecomastia

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

Aliases & Classifications for Pseudohermaphroditism, Male, with Gynecomastia

MalaCards integrated aliases for Pseudohermaphroditism, Male, with Gynecomastia:

Name: Pseudohermaphroditism, Male, with Gynecomastia 54 25 13
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 24 25
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency 50 25
Testosterone 17-Beta-Dehydrogenase Deficiency 25 29
46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 56
Male Pseudohermaphroditism Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 56
Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency 50
Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency 25
17 Alpha Ketosteroid Reductase Deficiency of Testis 50
17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency 50
17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 56
Male Pseudoherma-Phroditism with Gynecomastia 50
17-Ketosteroid Reductase Deficiency of Testis 25
Pseudohermaphroditism Male with Gynecomastia 29
Male Pseudohermaphrodism with Gynecomastia 71
17-Hydroxysteroid Dehydrogenase Deficiency 69
17-Ketosteroidreductase Deficiency 56
17-Ketoreductase Deficiency 56
17 Alpha Ksr Deficiency 50
17-Ksr Deficiency 25
Mph 71

Characteristics:

Orphanet epidemiological data:

56
46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Netherlands),>1/1000; Age of onset: Adolescent,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
pseudohermaphroditism, male, with gynecomastia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 264300
Orphanet 56 ORPHA752
UMLS via Orphanet 70 C0268296
ICD10 via Orphanet 34 E29.1
ICD10 33 Q56.1

Summaries for Pseudohermaphroditism, Male, with Gynecomastia

NIH Rare Diseases : 50 17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. people with this condition are genetically male and have testes, but do not produce enough testosterone. most people with this condition are born with external genitalia that appear female. in some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. during puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the hsd17b3 gene and is inherited in an autosomal recessive pattern. last updated: 11/9/2011

MalaCards based summary : Pseudohermaphroditism, Male, with Gynecomastia, also known as 17-beta hydroxysteroid dehydrogenase iii deficiency, is related to attention deficit-hyperactivity disorder and gynecomastia, and has symptoms including ambiguous genitalia, cryptorchidism and infertility. An important gene associated with Pseudohermaphroditism, Male, with Gynecomastia is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3). Affiliated tissues include testes, testis and thyroid.

Genetics Home Reference : 25 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of the male sex hormone testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.

UniProtKB/Swiss-Prot : 71 Male pseudohermaphrodism with gynecomastia: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.

Description from OMIM: 264300

Related Diseases for Pseudohermaphroditism, Male, with Gynecomastia

Diseases related to Pseudohermaphroditism, Male, with Gynecomastia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.0
2 gynecomastia 9.8
3 vaginitis 9.8
4 pseudohermaphroditism 9.8
5 arthritis 9.7
6 lyme disease 9.7
7 septic arthritis 9.7

Graphical network of the top 20 diseases related to Pseudohermaphroditism, Male, with Gynecomastia:



Diseases related to Pseudohermaphroditism, Male, with Gynecomastia

Symptoms & Phenotypes for Pseudohermaphroditism, Male, with Gynecomastia

Symptoms via clinical synopsis from OMIM:

54

Endocrine:
infertility
hypothyroidism

GU:
male pseudohermaphroditism
female-appearing genitalia at birth
inguinal testes
normal virilization at puberty

Thorax:
gynecomastia

Lab:
17-ketosteroid reductase defect
thyroid dyshormogenesis
abnormally high delta(4)-a to t ratio in plasma
46,xy karyotype


Clinical features from OMIM:

264300

Human phenotypes related to Pseudohermaphroditism, Male, with Gynecomastia:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000062
2 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
3 infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000789
4 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 gynecomastia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000771
6 male pseudohermaphroditism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000037
7 hypogonadotrophic hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000044
8 abnormality of the urethra 56 32 hallmark (90%) Very frequent (99-80%) HP:0000795
9 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Pseudohermaphroditism, Male, with Gynecomastia

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654

Search NIH Clinical Center for Pseudohermaphroditism, Male, with Gynecomastia

Genetic Tests for Pseudohermaphroditism, Male, with Gynecomastia

Genetic tests related to Pseudohermaphroditism, Male, with Gynecomastia:

id Genetic test Affiliating Genes
1 Testosterone 17-Beta-Dehydrogenase Deficiency 29
2 Pseudohermaphroditism Male with Gynecomastia 29
3 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 24 HSD17B3

Anatomical Context for Pseudohermaphroditism, Male, with Gynecomastia

MalaCards organs/tissues related to Pseudohermaphroditism, Male, with Gynecomastia:

39
Testes, Testis, Thyroid

Publications for Pseudohermaphroditism, Male, with Gynecomastia

Variations for Pseudohermaphroditism, Male, with Gynecomastia

UniProtKB/Swiss-Prot genetic disease variations for Pseudohermaphroditism, Male, with Gynecomastia:

71 (show all 15)
id Symbol AA change Variation ID SNP ID
1 HSD17B3 p.Arg80Gln VAR_006953 rs119481075
2 HSD17B3 p.Arg80Trp VAR_006954 rs119481077
3 HSD17B3 p.Ala203Val VAR_006955 rs119481076
4 HSD17B3 p.Ser232Leu VAR_006956 rs28939085
5 HSD17B3 p.Met235Val VAR_006957 rs119481074
6 HSD17B3 p.Ala56Thr VAR_016067 rs119481078
7 HSD17B3 p.Ser65Leu VAR_016068 rs747329682
8 HSD17B3 p.Asn130Ser VAR_016069 rs119481079
9 HSD17B3 p.Gln176Pro VAR_016070 rs767259718
10 HSD17B3 p.Val205Glu VAR_016071 rs372027264
11 HSD17B3 p.Phe208Ile VAR_016072
12 HSD17B3 p.Cys268Tyr VAR_016073 rs119481080
13 HSD17B3 p.Pro282Leu VAR_016074 rs144809928
14 HSD17B3 p.Glu215Asp VAR_016203 rs115063639
15 HSD17B3 p.Gly133Arg VAR_075369 rs747724352

ClinVar genetic disease variations for Pseudohermaphroditism, Male, with Gynecomastia:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B3 NM_000197.1(HSD17B3): c.695C> T (p.Ser232Leu) single nucleotide variant Pathogenic rs28939085 GRCh37 Chromosome 9, 99003167: 99003167
2 HSD17B3 NM_000197.1(HSD17B3): c.703A> G (p.Met235Val) single nucleotide variant Pathogenic rs119481074 GRCh37 Chromosome 9, 99003159: 99003159
3 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh37 Chromosome 9, 99017188: 99017188
4 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh37 Chromosome 9, 99006675: 99006675
5 HSD17B3 HSD17B3, IVS3AS, G-C, -1 single nucleotide variant Pathogenic
6 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119481077 GRCh37 Chromosome 9, 99017189: 99017189
7 HSD17B3 NM_000197.1(HSD17B3): c.607-1G> A single nucleotide variant Pathogenic rs730880305 GRCh37 Chromosome 9, 99006677: 99006677
8 HSD17B3 NM_000197.1(HSD17B3): c.166G> A (p.Ala56Thr) single nucleotide variant Pathogenic rs119481078 GRCh37 Chromosome 9, 99060733: 99060733
9 HSD17B3 NM_000197.1(HSD17B3): c.389A> G (p.Asn130Ser) single nucleotide variant Pathogenic rs119481079 GRCh37 Chromosome 9, 99013764: 99013764
10 HSD17B3 NM_000197.1(HSD17B3): c.803G> A (p.Cys268Tyr) single nucleotide variant Pathogenic rs119481080 GRCh37 Chromosome 9, 99003059: 99003059
11 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh37 Chromosome 9, 99017146: 99017146

Expression for Pseudohermaphroditism, Male, with Gynecomastia

Search GEO for disease gene expression data for Pseudohermaphroditism, Male, with Gynecomastia.

Pathways for Pseudohermaphroditism, Male, with Gynecomastia

GO Terms for Pseudohermaphroditism, Male, with Gynecomastia

Sources for Pseudohermaphroditism, Male, with Gynecomastia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....