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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
Natural potent androgens: lessons from human genetic models.
Zhu YS, Katz MD, Imperato-McGinley J
Baillieres Clin Endocrinol Metab 1998 Apr;12(1):83-113. doi: 10.1016/s0950-351x(98)80478-3. PMID: 9890063
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Diagnosis

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
Disorders of androgen action.
Sultan C, Lumbroso S, Paris F, Jeandel C, Terouanne B, Belon C, Audran F, Poujol N, Georget V, Gobinet J, Jalaguier S, Auzou G, Nicolas JC
Semin Reprod Med 2002 Aug;20(3):217-28. doi: 10.1055/s-2002-35386. PMID: 12428202
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
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
Ambiguous genitalia--etiology, diagnosis, and therapy.
Federman DD, Donahoe PK
Adv Endocrinol Metab 1995;6:91-116. PMID: 7671103

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
Familial male pseudohermaphroditism.
Ammini AC, Sharma DC, Gupta R, Mohapatra I, Kucheria K, Kriplani A, Takkar D, Mitra DK, Vijayaraghavan M
Indian J Pediatr 1997 May-Jun;64(3):419-23. doi: 10.1007/BF02845218. PMID: 10771866
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

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
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
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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