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Polycystic ovaries(PCOS1)

MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
Synonyms: HYPERANDROGENEMIA; PCOS1; Polycystic Ovary Syndrome; POLYCYSTIC OVARY SYNDROME 1; STEIN-LEVENTHAL SYNDROME
SNOMED CT: Polycystic ovary syndrome (237055002); PCOS- polycystic ovary syndrome (237055002); Polycystic ovary (781067001)
 
HPO: HP:0000147
Monarch Initiative: MONDO:0008487
OMIM®: 184700
Orphanet: ORPHA3185

Definition

Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.

Most women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.

Hyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).

In polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.

About half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.

Women with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression. [from MedlinePlus Genetics]

Clinical features

From HPO
Amenorrhea
MedGen UID:
8016
Concept ID:
C0002453
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Enlarged polycystic ovaries
MedGen UID:
870206
Concept ID:
C4024641
Disease or Syndrome
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).

Term Hierarchy

Conditions with this feature

Rokitansky sequence
MedGen UID:
140915
Concept ID:
C0431648
Congenital Abnormality
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).
Familial partial lipodystrophy, Dunnigan type
MedGen UID:
354526
Concept ID:
C1720860
Disease or Syndrome
Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.
PPARG-related familial partial lipodystrophy
MedGen UID:
328393
Concept ID:
C1720861
Disease or Syndrome
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.
Congenital generalized lipodystrophy type 1
MedGen UID:
318592
Concept ID:
C1720862
Disease or Syndrome
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Congenital generalized lipodystrophy type 2
MedGen UID:
318593
Concept ID:
C1720863
Congenital Abnormality
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Hepatic adenomas, familial
MedGen UID:
374515
Concept ID:
C1840646
Disease or Syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
MedGen UID:
340317
Concept ID:
C1849401
Disease or Syndrome
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MedGen UID:
461449
Concept ID:
C3150099
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Estrogen resistance syndrome
MedGen UID:
815580
Concept ID:
C3809250
Disease or Syndrome
Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes (Bernard et al., 2017). Some patients exhibit continued growth into adulthood (Smith et al., 1994).
Lipodystrophy, partial, acquired, susceptibility to
MedGen UID:
854363
Concept ID:
C3887501
Finding
An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.
Luscan-Lumish syndrome
MedGen UID:
898669
Concept ID:
C4085873
Disease or Syndrome
Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Professional guidelines

PubMed

American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Gynecology
Obstet Gynecol 2018 Jun;131(6):e157-e171. doi: 10.1097/AOG.0000000000002656. PMID: 29794677
Bednarska S, Siejka A
Adv Clin Exp Med 2017 Mar-Apr;26(2):359-367. doi: 10.17219/acem/59380. PMID: 28791858
Legro RS, Arslanian SA, Ehrmann DA, Hoeger KM, Murad MH, Pasquali R, Welt CK; Endocrine Society
J Clin Endocrinol Metab 2013 Dec;98(12):4565-92. Epub 2013 Oct 22 doi: 10.1210/jc.2013-2350. PMID: 24151290Free PMC Article

Recent clinical studies

Etiology

Cincione RI, Losavio F, Ciolli F, Valenzano A, Cibelli G, Messina G, Polito R
Int J Environ Res Public Health 2021 Nov 27;18(23) doi: 10.3390/ijerph182312490. PMID: 34886216Free PMC Article
Meier RK
Nurs Clin North Am 2018 Sep;53(3):407-420. Epub 2018 Jul 11 doi: 10.1016/j.cnur.2018.04.008. PMID: 30100006
Walls ML, Hart RJ
Best Pract Res Clin Obstet Gynaecol 2018 Nov;53:60-72. Epub 2018 Jun 28 doi: 10.1016/j.bpobgyn.2018.06.004. PMID: 30056110
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Gynecology
Obstet Gynecol 2018 Jun;131(6):e157-e171. doi: 10.1097/AOG.0000000000002656. PMID: 29794677
Bednarska S, Siejka A
Adv Clin Exp Med 2017 Mar-Apr;26(2):359-367. doi: 10.17219/acem/59380. PMID: 28791858

Diagnosis

Yang J, Chen C
J Endocrinol 2024 Apr 1;261(1) Epub 2024 Feb 15 doi: 10.1530/JOE-23-0342. PMID: 38285626
Cianci A, Vitale SG
Int J Food Sci Nutr 2022 Aug;73(5):565-570. Epub 2022 Jan 20 doi: 10.1080/09637486.2022.2029830. PMID: 35057707
Meier RK
Nurs Clin North Am 2018 Sep;53(3):407-420. Epub 2018 Jul 11 doi: 10.1016/j.cnur.2018.04.008. PMID: 30100006
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Gynecology
Obstet Gynecol 2018 Jun;131(6):e157-e171. doi: 10.1097/AOG.0000000000002656. PMID: 29794677
Barthelmess EK, Naz RK
Front Biosci (Elite Ed) 2014 Jan 1;6(1):104-19. doi: 10.2741/e695. PMID: 24389146Free PMC Article

Therapy

Manouchehri A, Abbaszadeh S, Ahmadi M, Nejad FK, Bahmani M, Dastyar N
JBRA Assist Reprod 2023 Mar 30;27(1):85-91. doi: 10.5935/1518-0557.20220024. PMID: 35916457Free PMC Article
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Rashid R, Mir SA, Kareem O, Ali T, Ara R, Malik A, Amin F, Bader GN
Taiwan J Obstet Gynecol 2022 Jan;61(1):40-50. doi: 10.1016/j.tjog.2021.11.009. PMID: 35181044
Cianci A, Vitale SG
Int J Food Sci Nutr 2022 Aug;73(5):565-570. Epub 2022 Jan 20 doi: 10.1080/09637486.2022.2029830. PMID: 35057707
Barthelmess EK, Naz RK
Front Biosci (Elite Ed) 2014 Jan 1;6(1):104-19. doi: 10.2741/e695. PMID: 24389146Free PMC Article

Prognosis

Ma C, Xu H, Zhang X, Feng G, Shi L, Su Y, Yang L, Zhao R, Qiao J
Clin Chim Acta 2023 Jul 1;547:117440. Epub 2023 Jun 11 doi: 10.1016/j.cca.2023.117440. PMID: 37311505
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Rosenfield RL
J Clin Endocrinol Metab 2013 Sep;98(9):3572-83. Epub 2013 Aug 2 doi: 10.1210/jc.2013-1770. PMID: 23913942Free PMC Article
Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF; Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society
Fertil Steril 2009 Feb;91(2):456-88. Epub 2008 Oct 23 doi: 10.1016/j.fertnstert.2008.06.035. PMID: 18950759
Dewailly D
Baillieres Clin Obstet Gynaecol 1997 Jun;11(2):349-68. doi: 10.1016/s0950-3552(97)80041-7. PMID: 9536215

Clinical prediction guides

Paoli A, Mancin L, Giacona MC, Bianco A, Caprio M
J Transl Med 2020 Feb 27;18(1):104. doi: 10.1186/s12967-020-02277-0. PMID: 32103756Free PMC Article
Barrea L, Arnone A, Annunziata G, Muscogiuri G, Laudisio D, Salzano C, Pugliese G, Colao A, Savastano S
Nutrients 2019 Sep 23;11(10) doi: 10.3390/nu11102278. PMID: 31547562Free PMC Article
Bozdag G, Mumusoglu S, Zengin D, Karabulut E, Yildiz BO
Hum Reprod 2016 Dec;31(12):2841-2855. Epub 2016 Sep 22 doi: 10.1093/humrep/dew218. PMID: 27664216
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF; Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society
Fertil Steril 2009 Feb;91(2):456-88. Epub 2008 Oct 23 doi: 10.1016/j.fertnstert.2008.06.035. PMID: 18950759

Recent systematic reviews

Manouchehri A, Abbaszadeh S, Ahmadi M, Nejad FK, Bahmani M, Dastyar N
JBRA Assist Reprod 2023 Mar 30;27(1):85-91. doi: 10.5935/1518-0557.20220024. PMID: 35916457Free PMC Article
Lim CED, Ng RWC, Cheng NCL, Zhang GS, Chen H
Cochrane Database Syst Rev 2019 Jul 2;7(7):CD007689. doi: 10.1002/14651858.CD007689.pub4. PMID: 31264709Free PMC Article
Bozdag G, Mumusoglu S, Zengin D, Karabulut E, Yildiz BO
Hum Reprod 2016 Dec;31(12):2841-2855. Epub 2016 Sep 22 doi: 10.1093/humrep/dew218. PMID: 27664216
Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF; Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society
Fertil Steril 2009 Feb;91(2):456-88. Epub 2008 Oct 23 doi: 10.1016/j.fertnstert.2008.06.035. PMID: 18950759
Tummon I, Gavrilova-Jordan L, Allemand MC, Session D
Acta Obstet Gynecol Scand 2005 Jul;84(7):611-6. doi: 10.1111/j.0001-6349.2005.00788.x. PMID: 15954867

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