46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCY 17-@ KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS 17-@ KSR DEFICIENCY PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED 17-ketoreductase deficiency Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketosteroidreductase deficiency |
| Number of Symptoms | 17 |
| OrphanetNr: | 752 |
| OMIM Id: |
264300
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| ICD-10: |
E29.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.68 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
46,XY disorder of sex development due to testicular steroidogenesis defect
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000037) | Male pseudohermaphroditism | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000795) | Abnormality of the urethra | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000771) | Gynecomastia | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Normal virilization at puberty | 1 / 7739 | ||||
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(OMIM) | 46,XY karyotype | 2 / 7739 | ||||
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(OMIM) | Thyroid dyshormogenesis | 1 / 7739 | ||||
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(OMIM) | Female-appearing genitalia at birth | 1 / 7739 | ||||
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(OMIM) | Inguinal testes | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | 17-ketosteroid reductase defect | 1 / 7739 | ||||
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(OMIM) | Abnormally high delta(4)-A to T ratio in plasma | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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