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Female external genitalia in individual with 46,XY karyotype

MedGen UID:
341167
Concept ID:
C1848178
Finding
Synonym: Female external genitalia in males
 
HPO: HP:0008730

Definition

The presence of female external genitalia in a person with a male karyotype. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Female external genitalia in individual with 46,XY karyotype

Conditions with this feature

Androgen resistance syndrome
MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.
Testosterone 17-beta-dehydrogenase deficiency
MedGen UID:
120626
Concept ID:
C0268296
Disease or Syndrome
HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001).

Professional guidelines

PubMed

Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, Bin Abbas B, Attia NA, Al Shaikh A, Alzahrani AS
Endocrine 2019 Feb;63(2):361-368. Epub 2018 Sep 29 doi: 10.1007/s12020-018-1767-1. PMID: 30269266
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482
Paris F, Gaspari L, Philibert P, Maïmoun L, Kalfa N, Sultan C
Endocr Dev 2012;22:56-71. Epub 2012 Jul 25 doi: 10.1159/000326631. PMID: 22846521

Recent clinical studies

Etiology

Wei X, Li S, He Y
Medicine (Baltimore) 2023 Dec 29;102(52):e36725. doi: 10.1097/MD.0000000000036725. PMID: 38206718Free PMC Article
Karila D, Donadille B, Léger J, Bouvattier C, Bachelot A, Kerlan V, Catteau-Jonard S, Salenave S, Albarel F, Briet C, Coutant R, Brac De La Perriere A, Valent A, Siffroi JP, Christin-Maitre S
Eur J Endocrinol 2022 Dec 1;187(6):873-881. Epub 2022 Nov 24 doi: 10.1530/EJE-22-0593. PMID: 36305565
Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L
Eur J Endocrinol 2018 Sep;179(3):181-190. Epub 2018 Jul 4 doi: 10.1530/EJE-18-0309. PMID: 29973376
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482
Brinkmann A, Jenster G, Ris-Stalpers C, van der Korput H, Brüggenwirth H, Boehmer A, Trapman J
Steroids 1996 Apr;61(4):172-5. doi: 10.1016/0039-128x(96)00008-6. PMID: 8732995

Diagnosis

Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F
J Endocrinol Invest 2023 Nov;46(11):2237-2245. Epub 2023 Jun 10 doi: 10.1007/s40618-023-02127-y. PMID: 37300628
Karila D, Donadille B, Léger J, Bouvattier C, Bachelot A, Kerlan V, Catteau-Jonard S, Salenave S, Albarel F, Briet C, Coutant R, Brac De La Perriere A, Valent A, Siffroi JP, Christin-Maitre S
Eur J Endocrinol 2022 Dec 1;187(6):873-881. Epub 2022 Nov 24 doi: 10.1530/EJE-22-0593. PMID: 36305565
Russo G, di Lascio A, Ferrario M, Meroni S, Hiort O, Chiumello G
J Pediatr Adolesc Gynecol 2012 Jun;25(3):e77-9. doi: 10.1016/j.jpag.2012.03.001. PMID: 22578489
Berkovitz GD, Seeherunvong T
Baillieres Clin Endocrinol Metab 1998 Apr;12(1):133-42. doi: 10.1016/s0950-351x(98)80512-0. PMID: 9890065
Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W
Hum Genet 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838. PMID: 8557267

Therapy

Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T
J Clin Endocrinol Metab 2020 Nov 1;105(11) doi: 10.1210/clinem/dgaa557. PMID: 32835366
Kumar AS, Srilakshmi R, Karthickeyan S, Balakrishnan K, Padmaraj R, Senguttuvan P
Indian J Med Res 2016 Aug;144(2):276-280. doi: 10.4103/0971-5916.195044. PMID: 27934809Free PMC Article
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482
Efthymiadou A, Stefanou EG, Chrysis D
Hormones (Athens) 2012 Oct-Dec;11(4):501-4. doi: 10.14310/horm.2002.1384. PMID: 23422775
New MI
J Clin Invest 1970 Oct;49(10):1930-41. doi: 10.1172/JCI106412. PMID: 5456802Free PMC Article

Prognosis

Karila D, Donadille B, Léger J, Bouvattier C, Bachelot A, Kerlan V, Catteau-Jonard S, Salenave S, Albarel F, Briet C, Coutant R, Brac De La Perriere A, Valent A, Siffroi JP, Christin-Maitre S
Eur J Endocrinol 2022 Dec 1;187(6):873-881. Epub 2022 Nov 24 doi: 10.1530/EJE-22-0593. PMID: 36305565
Ochi T, Ishiyama A, Yazaki Y, Murakami H, Takeda M, Seo S, Sueyoshi R, Lane GJ, Haruna H, Shimizu T, Yamataka A
Pediatr Surg Int 2019 May;35(5):611-617. Epub 2019 Feb 14 doi: 10.1007/s00383-019-04457-6. PMID: 30762107
Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L
Eur J Endocrinol 2018 Sep;179(3):181-190. Epub 2018 Jul 4 doi: 10.1530/EJE-18-0309. PMID: 29973376
Heeley JM, Hollander AS, Austin PF, Merritt DF, Wesevich VG; Washington University School of Medicine in St Louis DSD Team, Amarillo IE
J Pediatr Urol 2018 Apr;14(2):153.e1-153.e7. Epub 2017 Nov 20 doi: 10.1016/j.jpurol.2017.09.027. PMID: 29157626
Sheu JN, Chen JH
Pediatr Nephrol 1999 Nov;13(9):927-9. doi: 10.1007/s004670050730. PMID: 10603151

Clinical prediction guides

Hardigaloeh AT, Tarigan TJE, Yunir E, Sumapradja K, Agiananda F, Ariani Y, Marzuki NS, Wahyudi I, Lisnawati L
Acta Med Indones 2023 Oct;55(4):460-464. PMID: 38213048
Karila D, Donadille B, Léger J, Bouvattier C, Bachelot A, Kerlan V, Catteau-Jonard S, Salenave S, Albarel F, Briet C, Coutant R, Brac De La Perriere A, Valent A, Siffroi JP, Christin-Maitre S
Eur J Endocrinol 2022 Dec 1;187(6):873-881. Epub 2022 Nov 24 doi: 10.1530/EJE-22-0593. PMID: 36305565
Ochi T, Ishiyama A, Yazaki Y, Murakami H, Takeda M, Seo S, Sueyoshi R, Lane GJ, Haruna H, Shimizu T, Yamataka A
Pediatr Surg Int 2019 May;35(5):611-617. Epub 2019 Feb 14 doi: 10.1007/s00383-019-04457-6. PMID: 30762107
Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L
Eur J Endocrinol 2018 Sep;179(3):181-190. Epub 2018 Jul 4 doi: 10.1530/EJE-18-0309. PMID: 29973376
Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL
Clin Endocrinol (Oxf) 2016 Aug;85(2):247-57. Epub 2016 Apr 4 doi: 10.1111/cen.13051. PMID: 26935236

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