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Ovarian cyst

MedGen UID:
504360
Concept ID:
CN000134
Finding
Synonyms: Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cystic abnormality
 
HPO: HP:0000138

Definition

The presence of one or more cysts of the ovary. [from HPO]

Conditions with this feature

Cowden syndrome
MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.
Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body. Severe insulin resistance underlies the varied signs and symptoms of Donohue syndrome. Individuals with Donohue syndrome are unusually small starting before birth, and affected infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features that become apparent soon after birth include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Donohue syndrome include bulging eyes, thick lips, upturned nostrils, and low-set ears. Affected individuals develop recurrent, life-threatening infections beginning in infancy. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Donohue syndrome represents the most severe end of the spectrum; children with this condition do not survive beyond age 2.
Ectrodactyly-ectodermal dysplasia-clefting syndrome
MedGen UID:
98357
Concept ID:
C0406704
Congenital Abnormality
Ectrodactyly of the hands and feet (lobster claw anomaly), nasolacrimal duct obstruction, cleft lip and palate, and urogenital abnormalities are the cardinal features. Mental retardation, conductive hearing loss, and abnormalities of the ears and face are occasionally associated. The phenotype overlaps in parts that of the ectrodactyly-mandibulo-facial dysostosis syndrome.
Aromatase deficiency
MedGen UID:
163903
Concept ID:
C0878680
Disease or Syndrome
Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by Jones et al., 2007).
Oral-facial-digital syndrome
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is associated with dysfunction of primary cilia and is characterized by the following abnormalities: Oral (lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia) . Digital (brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands). Brain (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) . Kidney (polycystic kidney disease). As many as 50% of individuals with OFD1 have some degree of intellectual disability, which is usually mild. Almost all affected individuals are female. However, males with OFD1 have been described, mostly as malformed fetuses delivered by women with OFD1.
Fraser-like syndrome
MedGen UID:
346426
Concept ID:
C1856708
Disease or Syndrome
Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome

Recent clinical studies

Etiology

Lind T, Hammarström M, Lampic C, Rodriguez-Wallberg K
Acta Obstet Gynecol Scand 2015 Feb;94(2):183-90. Epub 2014 Nov 7 doi: 10.1111/aogs.12526. [Epub ahead of print] PMID: 25287421
McDonnell R, Marjoribanks J, Hart RJ
Cochrane Database Syst Rev 2014;12:CD005999. Epub 2014 Dec 12 doi: 10.1002/14651858.CD005999.pub2. PMID: 25502626
Chen L, Ding J, Hua K
J Obstet Gynaecol Res 2014 Mar;40(3):763-9. PMID: 24738121
Kim TH, Jo S, Park Y, Lee HH, Chung SH, Lee WS
J Obstet Gynaecol 2013 Aug;33(6):597-600. doi: 10.3109/01443615.2013.786029. PMID: 23919858
Shiota M, Kotani Y, Umemoto M, Tobiume T, Hoshiai H
J Obstet Gynaecol Res 2013 Jan;39(1):326-9. Epub 2012 Jun 13 doi: 10.1111/j.1447-0756.2012.01926.x. [Epub ahead of print] PMID: 22690912

Diagnosis

Makarawo TP, Bartock J, Cullen ML
JAMA Surg 2015 Mar 1;150(3):269-70. doi: 10.1001/jamasurg.2014.498. PMID: 25608030
Calayag M, Malone CC, Drake B, Chavhan G, Rutka JT
J Neurosurg Pediatr 2015 Jan;15(1):89-91. doi: 10.3171/2014.9.PEDS149. PMID: 25343733
Fuchs T, Pomorski M, Lepka P, Tomiałowicz M, Woytoń R, Zimmer A, Zimmer M
Clin Exp Obstet Gynecol 2014;41(1):78-9. PMID: 24707690
Ahmad M, Kumar A, Thomson S
Br J Neurosurg 2014 Aug;28(4):549-51. Epub 2014 Jan 22 doi: 10.3109/02688697.2013.847174. [Epub ahead of print] PMID: 24447226
Shiota M, Kotani Y, Umemoto M, Tobiume T, Hoshiai H
J Obstet Gynaecol Res 2013 Jan;39(1):326-9. Epub 2012 Jun 13 doi: 10.1111/j.1447-0756.2012.01926.x. [Epub ahead of print] PMID: 22690912

Therapy

McDonnell R, Marjoribanks J, Hart RJ
Cochrane Database Syst Rev 2014;12:CD005999. Epub 2014 Dec 12 doi: 10.1002/14651858.CD005999.pub2. PMID: 25502626
Chen L, Ding J, Hua K
J Obstet Gynaecol Res 2014 Mar;40(3):763-9. PMID: 24738121
Fernandois D, Lara HE, Paredes AH
Horm Metab Res 2012 Sep;44(9):682-7. Epub 2012 Mar 9 doi: 10.1055/s-0032-1304607. [Epub ahead of print] PMID: 22407436
Restuccia DF, Hynx D, Hemmings BA
Dis Model Mech 2012 May;5(3):403-11. Epub 2012 Jan 24 doi: 10.1242/dmm.008136. [Epub ahead of print] PMID: 22275470Free PMC Article
Jin HY, Choi JH, Lee BH, Kim GH, Kim HK, Yoo HW
Eur J Pediatr 2011 Apr;170(4):535-8. Epub 2010 Nov 6 doi: 10.1007/s00431-010-1342-0. [Epub ahead of print] PMID: 21057961

Prognosis

Lind T, Hammarström M, Lampic C, Rodriguez-Wallberg K
Acta Obstet Gynecol Scand 2015 Feb;94(2):183-90. Epub 2014 Nov 7 doi: 10.1111/aogs.12526. [Epub ahead of print] PMID: 25287421
Chen L, Ding J, Hua K
J Obstet Gynaecol Res 2014 Mar;40(3):763-9. PMID: 24738121
Park JY, Her KH, Kim BS, Maeng YH
World J Gastroenterol 2014 Jan 14;20(2):603-6. doi: 10.3748/wjg.v20.i2.603. PMID: 24574732Free PMC Article
Matsushita H, Takayanagi T, Ikarashi H, Fukase M
Eur J Gynaecol Oncol 2013;34(5):480-3. PMID: 24475589
Machado NO, Machado LS, Al Ghafri W
Surg Laparosc Endosc Percutan Tech 2011 Aug;21(4):e215-8. doi: 10.1097/SLE.0b013e31822671d3. PMID: 21857466

Clinical prediction guides

Lind T, Hammarström M, Lampic C, Rodriguez-Wallberg K
Acta Obstet Gynecol Scand 2015 Feb;94(2):183-90. Epub 2014 Nov 7 doi: 10.1111/aogs.12526. [Epub ahead of print] PMID: 25287421
Hakim MM, Abraham SM
BMJ Case Rep 2014 Jul 10;2014 doi: 10.1136/bcr-2014-205236. PMID: 25012889
Chen L, Ding J, Hua K
J Obstet Gynaecol Res 2014 Mar;40(3):763-9. PMID: 24738121
Park JY, Her KH, Kim BS, Maeng YH
World J Gastroenterol 2014 Jan 14;20(2):603-6. doi: 10.3748/wjg.v20.i2.603. PMID: 24574732Free PMC Article
Senthong A, Kitkumthorn N, Rattanatanyong P, Khemapech N, Triratanachart S, Mutirangura A
Int J Gynecol Cancer 2014 Jan;24(1):36-42. doi: 10.1097/IGC.0000000000000021. PMID: 24304685

Recent systematic reviews

McDonnell R, Marjoribanks J, Hart RJ
Cochrane Database Syst Rev 2014;12:CD005999. Epub 2014 Dec 12 doi: 10.1002/14651858.CD005999.pub2. PMID: 25502626
Gubbala K, Laios A, Gallos I, Pathiraja P, Haldar K, Ind T
J Ovarian Res 2014;7:69. Epub 2014 Jun 25 doi: 10.1186/1757-2215-7-69. PMID: 24995040Free PMC Article
Sehn JK, Kuroki LM, Hopeman MM, Longman RE, McNicholas CP, Huettner PC
Hum Pathol 2013 Dec;44(12):2861-4. Epub 2013 Oct 14 doi: 10.1016/j.humpath.2013.07.027. [Epub ahead of print] PMID: 24134929
Christopoulos G, Goubet S, Kelly T
J Obstet Gynaecol 2013 Jul;33(5):438-41. doi: 10.3109/01443615.2013.788622. PMID: 23815191
Grimes DA, Jones LB, Lopez LM, Schulz KF
Cochrane Database Syst Rev 2011 Sep 7;(9):CD006134. doi: 10.1002/14651858.CD006134.pub4. PMID: 21901701

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