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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
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

Therapy

The clinical applications of five-alpha reductase inhibitors.
Loughlin KR
Can J Urol 2021 Apr;28(2):10584-10588. PMID: 33872554
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
Female pseudohermaphroditism.
Bierich JR
Helv Paediatr Acta 1974;Suppl 34:87-97. PMID: 4616023

Prognosis

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
Denys-Drash syndrome.
Lin HC, Lin SK, Wen MC, Tseng CF, Fu LS, Chi CS
J Formos Med Assoc 2004 Jan;103(1):71-4. PMID: 15026863
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448
Congenital and infantile nephrotic syndromes.
Norio R, Rapola J
Prog Clin Biol Res 1989;305:179-92. PMID: 2668971

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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