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Abnormal morphology of female internal genitalia

MedGen UID:
871402
Concept ID:
C4025900
Anatomical Abnormality
Synonym: Abnormality of female internal genitalia
 
HPO: HP:0000008

Definition

An abnormality of the female internal genitalia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal morphology of female internal genitalia

Conditions with this feature

WHIM syndrome 1
MedGen UID:
1778124
Concept ID:
C5542296
Disease or Syndrome
WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). Heusinkveld et al. (2019) provided a detailed review of the clinical features, proposed pathogenesis, and possible therapeutic treatments of WHIM syndrome. There is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which one or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. The pathogenesis of WHIMS1 is postulated to result from impaired CXCL12 (600835)-induced internalization of CXCR4, resulting in prolonged receptor presence at the cell surface that likely contributes to amplification of signaling with a gain-of-function effect. Genetic Heterogeneity of WHIM Syndrome See also WHIMS2 (619407), caused by mutation in the CXCR2 gene (146928) on chromosome 2q35.

Professional guidelines

PubMed

Vitale SG, Buzzaccarini G, Riemma G, Pacheco LA, Di Spiezio Sardo A, Carugno J, Chiantera V, Török P, Noventa M, Haimovich S, De Franciscis P, Perez-Medina T, Angioni S, Laganà AS
J Gynecol Obstet Hum Reprod 2023 Jun;52(6):102588. Epub 2023 Apr 13 doi: 10.1016/j.jogoh.2023.102588. PMID: 37061093
Syryn H, Van De Vijver K, Cools M
Horm Res Paediatr 2023;96(2):180-189. Epub 2021 Sep 1 doi: 10.1159/000519323. PMID: 34469891
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589

Recent clinical studies

Etiology

Vitale SG, Buzzaccarini G, Riemma G, Pacheco LA, Di Spiezio Sardo A, Carugno J, Chiantera V, Török P, Noventa M, Haimovich S, De Franciscis P, Perez-Medina T, Angioni S, Laganà AS
J Gynecol Obstet Hum Reprod 2023 Jun;52(6):102588. Epub 2023 Apr 13 doi: 10.1016/j.jogoh.2023.102588. PMID: 37061093
Bogani G, Ray-Coquard I, Concin N, Ngoi NYL, Morice P, Enomoto T, Takehara K, Denys H, Lorusso D, Coleman R, Vaughan MM, Takano M, Provencher D, Sagae S, Wimberger P, Póka R, Segev Y, Kim SI, Kim JW, Candido Dos Reis FJ, Mariani A, Leitao MM Jr, Makker V, Rustum NA, Vergote I, Zannoni GF, Tan DSP, McCormack M, Bini M, Lopez S, Raspagliesi F, Panici PB, di Donato V, Muzii L, Colombo N, Scambia G, Pignata S, Monk BJ
Gynecol Oncol 2022 Mar;164(3):658-666. Epub 2022 Jan 19 doi: 10.1016/j.ygyno.2022.01.012. PMID: 35063279
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Ludwin A, Martins WP, Nastri CO, Ludwin I, Coelho Neto MA, Leitão VM, Acién M, Alcazar JL, Benacerraf B, Condous G, De Wilde RL, Emanuel MH, Gibbons W, Guerriero S, Hurd WW, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E
Ultrasound Obstet Gynecol 2018 Jan;51(1):101-109. doi: 10.1002/uog.18923. PMID: 29024135
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637

Diagnosis

Vitale SG, Buzzaccarini G, Riemma G, Pacheco LA, Di Spiezio Sardo A, Carugno J, Chiantera V, Török P, Noventa M, Haimovich S, De Franciscis P, Perez-Medina T, Angioni S, Laganà AS
J Gynecol Obstet Hum Reprod 2023 Jun;52(6):102588. Epub 2023 Apr 13 doi: 10.1016/j.jogoh.2023.102588. PMID: 37061093
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Ludwin A, Martins WP, Nastri CO, Ludwin I, Coelho Neto MA, Leitão VM, Acién M, Alcazar JL, Benacerraf B, Condous G, De Wilde RL, Emanuel MH, Gibbons W, Guerriero S, Hurd WW, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E
Ultrasound Obstet Gynecol 2018 Jan;51(1):101-109. doi: 10.1002/uog.18923. PMID: 29024135
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637

Therapy

Vitale SG, Buzzaccarini G, Riemma G, Pacheco LA, Di Spiezio Sardo A, Carugno J, Chiantera V, Török P, Noventa M, Haimovich S, De Franciscis P, Perez-Medina T, Angioni S, Laganà AS
J Gynecol Obstet Hum Reprod 2023 Jun;52(6):102588. Epub 2023 Apr 13 doi: 10.1016/j.jogoh.2023.102588. PMID: 37061093
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Vahanian SA, Vintzileos AM
Curr Opin Obstet Gynecol 2016 Dec;28(6):477-484. doi: 10.1097/GCO.0000000000000319. PMID: 27661402
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637

Prognosis

Bogani G, Ray-Coquard I, Concin N, Ngoi NYL, Morice P, Enomoto T, Takehara K, Denys H, Lorusso D, Coleman R, Vaughan MM, Takano M, Provencher D, Sagae S, Wimberger P, Póka R, Segev Y, Kim SI, Kim JW, Candido Dos Reis FJ, Mariani A, Leitao MM Jr, Makker V, Rustum NA, Vergote I, Zannoni GF, Tan DSP, McCormack M, Bini M, Lopez S, Raspagliesi F, Panici PB, di Donato V, Muzii L, Colombo N, Scambia G, Pignata S, Monk BJ
Gynecol Oncol 2022 Mar;164(3):658-666. Epub 2022 Jan 19 doi: 10.1016/j.ygyno.2022.01.012. PMID: 35063279
Swier N, Versteeg HH
Thromb Res 2017 Feb;150:8-18. Epub 2016 Dec 14 doi: 10.1016/j.thromres.2016.12.002. PMID: 27988375
Calleja-Agius J, Mallia P, Sapiano K, Schembri-Wismayer P
Neonatal Netw 2012 Mar-Apr;31(2):97-103. doi: 10.1891/0730-0832.31.2.97. PMID: 22397794
Bidarkar SS, Hutson JM
Semin Pediatr Surg 2005 May;14(2):118-23. doi: 10.1053/j.sempedsurg.2005.01.008. PMID: 15846569
Ryu J, Kim B
Radiographics 2001 Sep-Oct;21(5):1169-85. doi: 10.1148/radiographics.21.5.g01se121169. PMID: 11553824

Clinical prediction guides

Sysak R, Bluska P, Stencl P, Klein M, Varga I
Bratisl Lek Listy 2021;122(12):839-845. doi: 10.4149/BLL_2021_136. PMID: 34904845
Gentiluomo M, Luddi A, Cingolani A, Fornili M, Governini L, Lucenteforte E, Baglietto L, Piomboni P, Campa D
Int J Mol Sci 2021 Apr 12;22(8) doi: 10.3390/ijms22083959. PMID: 33921254Free PMC Article
Cunha GR, Li Y, Mei C, Derpinghaus A, Baskin LS
Differentiation 2021 Mar-Apr;118:107-131. Epub 2020 Oct 17 doi: 10.1016/j.diff.2020.10.001. PMID: 33176961Free PMC Article
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Ludwin A, Martins WP, Nastri CO, Ludwin I, Coelho Neto MA, Leitão VM, Acién M, Alcazar JL, Benacerraf B, Condous G, De Wilde RL, Emanuel MH, Gibbons W, Guerriero S, Hurd WW, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E
Ultrasound Obstet Gynecol 2018 Jan;51(1):101-109. doi: 10.1002/uog.18923. PMID: 29024135

Recent systematic reviews

Kobayashi H, Imanaka S
Reprod Sci 2024 Feb;31(2):320-331. Epub 2023 Aug 16 doi: 10.1007/s43032-023-01318-5. PMID: 37584856
Abboud K, Giannini A, D'Oria O, Ramadan A, Ayed A, Laganà AS, Chiantera V, Sleiman Z
Gynecol Obstet Invest 2023;88(1):1-10. Epub 2022 Dec 5 doi: 10.1159/000528508. PMID: 36470217
Sendur SN, Yildiz BO
Reprod Biomed Online 2021 Apr;42(4):799-818. Epub 2020 Dec 16 doi: 10.1016/j.rbmo.2020.12.006. PMID: 33487557
Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, Speiser PW, Baskin LS, Bancos I, Murad MH
J Clin Endocrinol Metab 2018 Nov 1;103(11):4089-4096. doi: 10.1210/jc.2018-01863. PMID: 30272250
Puchner R, Danninger K, Puchner A, Pieringer H
Clin Exp Rheumatol 2012 Sep-Oct;30(5):765-7. Epub 2012 Oct 17 PMID: 22935608

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