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Imperforate hymen

MedGen UID:
57775
Concept ID:
C0152436
Congenital Abnormality
Synonym: Hymen, Imperforate
SNOMED CT: Imperforate hymen (65937002)
 
HPO: HP:0030011
Monarch Initiative: MONDO:0009375
OMIM®: 237100

Definition

A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. [from HPO]

Conditions with this feature

Gillespie syndrome
MedGen UID:
96563
Concept ID:
C0431401
Disease or Syndrome
Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).
Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Adams-Oliver syndrome 1
MedGen UID:
1635567
Concept ID:
C4551482
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).

Professional guidelines

PubMed

Hamouie A, Dietrich JE
Clin Obstet Gynecol 2022 Dec 1;65(4):699-707. Epub 2022 Mar 11 doi: 10.1097/GRF.0000000000000703. PMID: 36260009
Khanna K, Sharma S, Gupta DK
Pediatr Surg Int 2018 Mar;34(3):249-261. Epub 2017 Nov 24 doi: 10.1007/s00383-017-4218-9. PMID: 29177625
Master-Hunter T, Heiman DL
Am Fam Physician 2006 Apr 15;73(8):1374-82. PMID: 16669559

Recent clinical studies

Etiology

Pulappadi VP, Manchanda S, Dhamija E, Jana M
Br J Radiol 2024 Feb 28;97(1155):513-525. doi: 10.1093/bjr/tqad052. PMID: 38419147
Nicassio LN, Cheng JW, Cain MP
Urology 2022 Feb;160:191-194. Epub 2021 Nov 25 doi: 10.1016/j.urology.2021.11.016. PMID: 34838824
Arkoulis N, Kearns C, Deeny M, Telfer J
BJOG 2017 Jan;124(2):331-335. Epub 2016 Jul 25 doi: 10.1111/1471-0528.14228. PMID: 27457120
Lakhi N, Dun EC, Nezhat CH
Fertil Steril 2014 Jun;101(6):e37. Epub 2014 Mar 26 doi: 10.1016/j.fertnstert.2014.02.049. PMID: 24680366
Shaw LM, Jones WA, Brereton RJ
J R Soc Med 1983 Jul;76(7):560-6. doi: 10.1177/014107688307600707. PMID: 6876046Free PMC Article

Diagnosis

Minemura R, Sugitate R, Shimizu M, Murata T, Ishige T, Takizawa T
Pediatr Int 2023 Jan-Dec;65(1):e15679. doi: 10.1111/ped.15679. PMID: 37888535
Nicassio LN, Cheng JW, Cain MP
Urology 2022 Feb;160:191-194. Epub 2021 Nov 25 doi: 10.1016/j.urology.2021.11.016. PMID: 34838824
Peleg D, Shinwell ES
J Pediatr 2019 Apr;207:258. doi: 10.1016/j.jpeds.2018.12.051. PMID: 30922498
Nakajima E, Ishigouoka T, Yoshida T, Sato T, Miyamoto T, Shirai M, Sengoku K
J Obstet Gynaecol 2015 Apr;35(3):311-3. Epub 2014 Aug 27 doi: 10.3109/01443615.2014.951608. PMID: 25162142
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708

Therapy

Awowole IO, Adenikinju WS, Ubom AE, Fadare OO
West Afr J Med 2021 Sep 30;38(9):900-902. PMID: 34677835
Darwish AM
Sultan Qaboos Univ Med J 2021 Feb;21(1):e110-e115. Epub 2021 Mar 15 doi: 10.18295/squmj.2021.21.01.015. PMID: 33777431Free PMC Article
Amitai E, Lior Y, Sheiner E, Saphier O, Leron E, Silberstein T
J Matern Fetal Neonatal Med 2020 Apr;33(8):1400-1404. Epub 2018 Sep 25 doi: 10.1080/14767058.2018.1519539. PMID: 30173591
Wong JWH, Siarezi S
J Pediatr Adolesc Gynecol 2019 Aug;32(4):432-435. Epub 2019 Apr 9 doi: 10.1016/j.jpag.2019.04.002. PMID: 30974214
Lok IH, Yip SK
Aust N Z J Obstet Gynaecol 2001 Feb;41(1):104-5. doi: 10.1111/j.1479-828x.2001.tb01306.x. PMID: 11284637

Prognosis

Zhang M, Zhang MX, Li GL, Xu CJ
J Huazhong Univ Sci Technolog Med Sci 2017 Dec;37(6):928-932. Epub 2017 Dec 21 doi: 10.1007/s11596-017-1829-2. PMID: 29270755
Tilahun B, Woldegebriel F, Wolde Z, Tadele H
Ethiop J Health Sci 2016 Jan;26(1):89-91. doi: 10.4314/ejhs.v26i1.15. PMID: 26949322Free PMC Article
Sawhney S, Gupta R, Berry M, Bhatnagar V
Australas Radiol 1990 Feb;34(1):93-4. doi: 10.1111/j.1440-1673.1990.tb02819.x. PMID: 2192702
Letts M, Haasbeek J
J Pediatr Orthop 1990 Nov-Dec;10(6):731-2. doi: 10.1097/01241398-199011000-00005. PMID: 2147439
Iuchtman M, Assa J, Blatnoi I, Ezagui L, Simon J
J Urol 1980 Aug;124(2):283-5. doi: 10.1016/s0022-5347(17)55410-5. PMID: 7401250

Clinical prediction guides

Singh R, Peer S, Wander A
Neurol Sci 2024 Aug;45(8):4091-4093. Epub 2024 Apr 19 doi: 10.1007/s10072-024-07523-7. PMID: 38637341
Darwish AM
Sultan Qaboos Univ Med J 2021 Feb;21(1):e110-e115. Epub 2021 Mar 15 doi: 10.18295/squmj.2021.21.01.015. PMID: 33777431Free PMC Article
Lazanyi M, Grover SR
J Paediatr Child Health 2020 Jan;56(1):90-93. Epub 2019 May 29 doi: 10.1111/jpc.14501. PMID: 31144364
Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100
Tseng JJ, Ho JY, Chen WH, Chou MM
J Chin Med Assoc 2008 Jun;71(6):325-8. doi: 10.1016/S1726-4901(08)70132-1. PMID: 18567566

Recent systematic reviews

Marino G, Alfieri N, Tessitore IV, Barba M, Manodoro S, Frigerio M
Int Urogynecol J 2023 Feb;34(2):357-369. Epub 2022 Jun 17 doi: 10.1007/s00192-022-05270-x. PMID: 35713674
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708

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