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Pseudohermaphroditism

MedGen UID:
10991
•Concept ID:
C0033804
•
Congenital Abnormality
Synonyms: indeterminate sex and pseudohermaphroditism; pseudohermaphroditism
SNOMED CT: Pseudohermaphroditism (75164001)
 
Monarch Initiative: MONDO:0005518

Definition

A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Pseudohermaphroditism

Professional guidelines

PubMed

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
Xia J, Wu J, Chen C, Zhao Z, Xie Y, Bai Z, Kong X
Gynecol Endocrinol 2021 Oct;37(10):934-940. Epub 2021 Aug 2 doi: 10.1080/09513590.2021.1960307. PMID: 34338568
Evaluation and management of the abnormal gonad.
Bidarkar SS, Hutson JM
Semin Pediatr Surg 2005 May;14(2):118-23. doi: 10.1053/j.sempedsurg.2005.01.008. PMID: 15846569
Male pseudohermaphroditism: clinical management, diagnosis and treatment.
Hughes IA, Williams DM, Batch JA, Patterson MN
Horm Res 1992;38 Suppl 2:77-81. doi: 10.1159/000182604. PMID: 1292987

Recent clinical studies

Etiology

The clinical applications of five-alpha reductase inhibitors.
Loughlin KR
Can J Urol 2021 Apr;28(2):10584-10588. PMID: 33872554
Denys-Drash syndrome.
Kucinskas L, Rudaitis S, Pundziene B, Just W
Medicina (Kaunas) 2005;41(2):132-4. PMID: 15758579
Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency.
Imperato-McGinley J, Zhu YS
Mol Cell Endocrinol 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. PMID: 12573814
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448
Clinical phenotypes and Wilms tumor.
Clericuzio CL
Med Pediatr Oncol 1993;21(3):182-7. doi: 10.1002/mpo.2950210306. PMID: 8383278

Diagnosis

The ecotoxicology of marine tributyltin (TBT) hotspots: A review.
Beyer J, Song Y, Tollefsen KE, Berge JA, Tveiten L, Helland A, Øxnevad S, Schøyen M
Mar Environ Res 2022 Jul;179:105689. Epub 2022 Jun 23 doi: 10.1016/j.marenvres.2022.105689. PMID: 35777303
Gonadotrophin resistance.
Huhtaniemi I, Alevizaki M
Best Pract Res Clin Endocrinol Metab 2006 Dec;20(4):561-76. doi: 10.1016/j.beem.2006.09.003. PMID: 17161332
Ambiguous genitalia.
González R, Piaggio LA
Curr Opin Urol 2006 Jul;16(4):273-6. doi: 10.1097/01.mou.0000232049.89589.30. PMID: 16770127
Denys-Drash syndrome.
Kucinskas L, Rudaitis S, Pundziene B, Just W
Medicina (Kaunas) 2005;41(2):132-4. PMID: 15758579
Ambiguous genitalia.
Anhalt H, Neely EK, Hintz RL
Pediatr Rev 1996 Jun;17(6):213-20. doi: 10.1542/pir.17-6-213. PMID: 8857201

Therapy

The clinical applications of five-alpha reductase inhibitors.
Loughlin KR
Can J Urol 2021 Apr;28(2):10584-10588. PMID: 33872554
Development of 17β-hydroxysteroid dehydrogenase type 3 as a target in hormone-dependent prostate cancer therapy.
Ning X, Yang Y, Deng H, Zhang Q, Huang Y, Su Z, Fu Y, Xiang Q, Zhang S
Steroids 2017 May;121:10-16. Epub 2017 Mar 4 doi: 10.1016/j.steroids.2017.02.003. PMID: 28267564
CYP17- and CYP11B-dependent steroid hydroxylases as drug development targets.
Hakki T, Bernhardt R
Pharmacol Ther 2006 Jul;111(1):27-52. Epub 2006 Jan 19 doi: 10.1016/j.pharmthera.2005.07.006. PMID: 16426683
Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency.
Imperato-McGinley J, Zhu YS
Mol Cell Endocrinol 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. PMID: 12573814
Ambiguous genitalia.
Anhalt H, Neely EK, Hintz RL
Pediatr Rev 1996 Jun;17(6):213-20. doi: 10.1542/pir.17-6-213. PMID: 8857201

Prognosis

Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ, Paulukinas RD, Penning TM
Int J Mol Sci 2023 Jan 18;24(3) doi: 10.3390/ijms24031873. PMID: 36768194Free PMC Article
Gonadal tumor in Frasier syndrome: a review and classification.
Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, Yamamoto T, Shibata N
Cancer Prev Res (Phila) 2015 Apr;8(4):271-6. Epub 2015 Jan 26 doi: 10.1158/1940-6207.CAPR-14-0415. PMID: 25623218
Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M
Pediatr Dev Pathol 2015 Jul-Aug;18(4):279-96. Epub 2014 Aug 8 doi: 10.2350/14-04-1465-PB.1. PMID: 25105706
Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.
De Sanctis L, Giuffrè M
Minerva Pediatr 2010 Jun;62(3 Suppl 1):193-5. PMID: 21089740
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Clinical prediction guides

Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ, Paulukinas RD, Penning TM
Int J Mol Sci 2023 Jan 18;24(3) doi: 10.3390/ijms24031873. PMID: 36768194Free PMC Article
The ecotoxicology of marine tributyltin (TBT) hotspots: A review.
Beyer J, Song Y, Tollefsen KE, Berge JA, Tveiten L, Helland A, Øxnevad S, Schøyen M
Mar Environ Res 2022 Jul;179:105689. Epub 2022 Jun 23 doi: 10.1016/j.marenvres.2022.105689. PMID: 35777303
The clinical applications of five-alpha reductase inhibitors.
Loughlin KR
Can J Urol 2021 Apr;28(2):10584-10588. PMID: 33872554
WT1 and glomerular diseases.
Niaudet P, Gubler MC
Pediatr Nephrol 2006 Nov;21(11):1653-60. Epub 2006 Aug 23 doi: 10.1007/s00467-006-0208-1. PMID: 16927106
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

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