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Endometriosis

MedGen UID:
8620
Concept ID:
C0014175
Disease or Syndrome
Synonym: Endometriosis (disease)
SNOMED CT: Endometriosis (396224008); Endometriosis (129103003); Endometriosis (clinical) (129103003)
 
HPO: HP:0030127
Monarch Initiative: MONDO:0005133

Definition

The growth of endometrial tissue outside the uterus. [from HPO]

Conditions with this feature

Endometriosis, susceptibility to, 1
MedGen UID:
338749
Concept ID:
C1851649
Finding
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
MedGen UID:
462289
Concept ID:
C3150939
Disease or Syndrome
THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and upslanted palpebral fissures, epicanthal folds, and long nose with low-hanging columella); microcephaly (typically 2-3 SD below the mean); teeth anomalies (dental caries, malocclusion, and supernumerary teeth); cardiac anomalies (most typically atrial and/or ventricular septal defects); prenatal ventriculomegaly and hydrocephalus; cryptorchidism in males; and renal malformations (most commonly unilateral renal agenesis). More rarely, affected individuals may have hypergonadotropic hypogonadism (in females), seizures, poor growth, feeding difficulties, hearing loss, refractive errors and/or other eye abnormalities, vertebral anomalies, micro/retrognathia, and imperforate / anteriorly placed anus.
Hermansky-Pudlak syndrome 6
MedGen UID:
854714
Concept ID:
C3888007
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.

Professional guidelines

PubMed

Horne AW, Missmer SA
BMJ 2022 Nov 14;379:e070750. doi: 10.1136/bmj-2022-070750. PMID: 36375827
Koninckx PR, Fernandes R, Ussia A, Schindler L, Wattiez A, Al-Suwaidi S, Amro B, Al-Maamari B, Hakim Z, Tahlak M
Front Endocrinol (Lausanne) 2021;12:745548. Epub 2021 Nov 25 doi: 10.3389/fendo.2021.745548. PMID: 34899597Free PMC Article
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article

Curated

UK NICE Guideline NG193, Chronic pain (primary and secondary) in over 16s: assessment of all chronic pain and management of chronic primary pain, 2021

Recent clinical studies

Etiology

Horne AW, Missmer SA
BMJ 2022 Nov 14;379:e070750. doi: 10.1136/bmj-2022-070750. PMID: 36375827
International working group of AAGL, ESGE, ESHRE and WES, Tomassetti C, Johnson NP, Petrozza J, Abrao MS, Einarsson JI, Horne AW, Lee TTM, Missmer S, Vermeulen N, Zondervan KT, Grimbizis G, De Wilde RL
J Minim Invasive Gynecol 2021 Nov;28(11):1849-1859. Epub 2021 Oct 21 doi: 10.1016/j.jmig.2021.08.032. PMID: 34690084
Horne AW, Saunders PTK
Cell 2019 Dec 12;179(7):1677-1677.e1. doi: 10.1016/j.cell.2019.11.033. PMID: 31951524
Falcone T, Flyckt R
Obstet Gynecol 2018 Mar;131(3):557-571. doi: 10.1097/AOG.0000000000002469. PMID: 29420391
Czyzyk A, Podfigurna A, Szeliga A, Meczekalski B
Minerva Ginecol 2017 Oct;69(5):447-461. Epub 2017 Mar 7 doi: 10.23736/S0026-4784.17.04048-5. PMID: 28271702

Diagnosis

Lamceva J, Uljanovs R, Strumfa I
Int J Mol Sci 2023 Feb 21;24(5) doi: 10.3390/ijms24054254. PMID: 36901685Free PMC Article
Horne AW, Missmer SA
BMJ 2022 Nov 14;379:e070750. doi: 10.1136/bmj-2022-070750. PMID: 36375827
Shim JY, Laufer MR
J Pediatr Adolesc Gynecol 2020 Apr;33(2):112-119. Epub 2019 Dec 5 doi: 10.1016/j.jpag.2019.11.011. PMID: 31812704
Falcone T, Flyckt R
Obstet Gynecol 2018 Mar;131(3):557-571. doi: 10.1097/AOG.0000000000002469. PMID: 29420391
Czyzyk A, Podfigurna A, Szeliga A, Meczekalski B
Minerva Ginecol 2017 Oct;69(5):447-461. Epub 2017 Mar 7 doi: 10.23736/S0026-4784.17.04048-5. PMID: 28271702

Therapy

Li PS, Peng XM, Niu XX, Xu L, Hung Yu Ng E, Wang CC, Dai JF, Lu J, Liang RN
Fertil Steril 2023 May;119(5):815-823. Epub 2023 Jan 27 doi: 10.1016/j.fertnstert.2023.01.034. PMID: 36716811
Tennfjord MK, Gabrielsen R, Tellum T
BMC Womens Health 2021 Oct 9;21(1):355. doi: 10.1186/s12905-021-01500-4. PMID: 34627209Free PMC Article
Amini L, Chekini R, Nateghi MR, Haghani H, Jamialahmadi T, Sathyapalan T, Sahebkar A
Pain Res Manag 2021;2021:5529741. Epub 2021 May 26 doi: 10.1155/2021/5529741. PMID: 34122682Free PMC Article
Chen I, Veth VB, Choudhry AJ, Murji A, Zakhari A, Black AY, Agarpao C, Maas JW
Cochrane Database Syst Rev 2020 Nov 18;11(11):CD003678. doi: 10.1002/14651858.CD003678.pub3. PMID: 33206374Free PMC Article
Vercellini P, Buggio L, Frattaruolo MP, Borghi A, Dridi D, Somigliana E
Best Pract Res Clin Obstet Gynaecol 2018 Aug;51:68-91. Epub 2018 Feb 15 doi: 10.1016/j.bpobgyn.2018.01.015. PMID: 29530425

Prognosis

Shafrir AL, Farland LV, Shah DK, Harris HR, Kvaskoff M, Zondervan K, Missmer SA
Best Pract Res Clin Obstet Gynaecol 2018 Aug;51:1-15. Epub 2018 Jul 3 doi: 10.1016/j.bpobgyn.2018.06.001. PMID: 30017581
Leone Roberti Maggiore U, Inversetti A, Schimberni M, Viganò P, Giorgione V, Candiani M
Fertil Steril 2017 Dec;108(6):895-912. doi: 10.1016/j.fertnstert.2017.10.035. PMID: 29202964
Zullo F, Spagnolo E, Saccone G, Acunzo M, Xodo S, Ceccaroni M, Berghella V
Fertil Steril 2017 Oct;108(4):667-672.e5. Epub 2017 Sep 2 doi: 10.1016/j.fertnstert.2017.07.019. PMID: 28874260
Templeman C
Obstet Gynecol Clin North Am 2009 Mar;36(1):177-85. doi: 10.1016/j.ogc.2008.12.005. PMID: 19344855
Stubblefield PG, Grimes DA
N Engl J Med 1994 Aug 4;331(5):310-4. doi: 10.1056/NEJM199408043310507. PMID: 8022443

Clinical prediction guides

Martinez V, Lehman T, Lavand'homme P, Harkouk H, Kalso E, Pogatzki-Zahn EM, Komann M, Meissner W, Weinmann C, Fletcher D
Eur J Anaesthesiol 2024 May 1;41(5):351-362. Epub 2024 Feb 27 doi: 10.1097/EJA.0000000000001974. PMID: 38414426Free PMC Article
Bazot M, Daraï E
Fertil Steril 2017 Dec;108(6):886-894. doi: 10.1016/j.fertnstert.2017.10.026. PMID: 29202963
Ahn SH, Singh V, Tayade C
Fertil Steril 2017 Mar;107(3):523-532. Epub 2017 Feb 8 doi: 10.1016/j.fertnstert.2017.01.009. PMID: 28189296
Abrão MS, Borrelli GM, Clarizia R, Kho RM, Ceccaroni M
Semin Reprod Med 2017 Jan;35(1):65-71. Epub 2016 Dec 12 doi: 10.1055/s-0036-1597307. PMID: 27951613
Adamson GD, Pasta DJ
Fertil Steril 2010 Oct;94(5):1609-15. doi: 10.1016/j.fertnstert.2009.09.035. PMID: 19931076

Recent systematic reviews

Nirgianakis K, Egger K, Kalaitzopoulos DR, Lanz S, Bally L, Mueller MD
Reprod Sci 2022 Jan;29(1):26-42. Epub 2021 Mar 24 doi: 10.1007/s43032-020-00418-w. PMID: 33761124Free PMC Article
Tennfjord MK, Gabrielsen R, Tellum T
BMC Womens Health 2021 Oct 9;21(1):355. doi: 10.1186/s12905-021-01500-4. PMID: 34627209Free PMC Article
Hodgson RM, Lee HL, Wang R, Mol BW, Johnson N
Fertil Steril 2020 Feb;113(2):374-382.e2. doi: 10.1016/j.fertnstert.2019.09.031. PMID: 32106991
Andres MP, Arcoverde FVL, Souza CCC, Fernandes LFC, Abrão MS, Kho RM
J Minim Invasive Gynecol 2020 Feb;27(2):373-389. Epub 2019 Oct 13 doi: 10.1016/j.jmig.2019.10.004. PMID: 31618674
Sanchez AM, Vanni VS, Bartiromo L, Papaleo E, Zilberberg E, Candiani M, Orvieto R, Viganò P
J Ovarian Res 2017 Jul 12;10(1):43. doi: 10.1186/s13048-017-0341-4. PMID: 28701212Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG193, Chronic pain (primary and secondary) in over 16s: assessment of all chronic pain and management of chronic primary pain, 2021

    Consumer resources

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