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Hypoplasia of the ovary

MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
Synonyms: Congenital hypoplasia of ovary; Congenital small ovary; Hypoplastic ovary; Underdeveloped ovary
SNOMED CT: Congenital hypoplasia of ovary (93279005); Congenital small ovary (93279005)
 
HPO: HP:0008724

Definition

Developmental hypoplasia of the ovary. [from HPO]

Conditions with this feature

Hypogonadotropic hypogonadism 12 with or without anosmia
MedGen UID:
347328
Concept ID:
C1856897
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
MedGen UID:
355875
Concept ID:
C1864942
Disease or Syndrome
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.
Premature ovarian failure 5
MedGen UID:
409743
Concept ID:
C1969060
Disease or Syndrome
Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.
Perrault syndrome 4
MedGen UID:
815435
Concept ID:
C3809105
Disease or Syndrome
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.
Premature ovarian failure 9
MedGen UID:
816706
Concept ID:
C3810376
Disease or Syndrome
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014). For a general phenotypic description and discussion of the genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Premature ovarian failure 10
MedGen UID:
898849
Concept ID:
C4225402
Disease or Syndrome
Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells. For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (300488).
LEOPARD syndrome 1
MedGen UID:
1631694
Concept ID:
C4551484
Disease or Syndrome
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.
Hypogonadotropic hypogonadism 25 with anosmia
MedGen UID:
1717461
Concept ID:
C5394246
Disease or Syndrome
Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed (Messina et al., 2020). For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.
Premature ovarian failure 18
MedGen UID:
1785989
Concept ID:
C5543095
Disease or Syndrome
Premature ovarian failure-18 (POF18) is characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small; ovaries may be small or rudimentary, and do not show follicular activity (Fan et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MedGen UID:
1784590
Concept ID:
C5543375
Disease or Syndrome
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).
Ovarian dysgenesis 9
MedGen UID:
1794256
Concept ID:
C5562046
Disease or Syndrome
Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability (Smirin-Yosef et al., 2017; Heddar et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Ovarian dysgenesis 10
MedGen UID:
1801078
Concept ID:
C5676966
Disease or Syndrome
Ovarian dysgenesis-10 (ODG10) is characterized by primary amenorrhea and absent puberty. The uterus is small and prepubertal, and ovaries are streak or not visualized on ultrasound (McGlacken-Byrne et al., 2022). Mutation in the ZSWIM7 gene also causes male infertility due to spermatogenic failure (SPGF71; 619831). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).

Professional guidelines

PubMed

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490
Bednarska S, Siejka A
Adv Clin Exp Med 2017 Mar-Apr;26(2):359-367. doi: 10.17219/acem/59380. PMID: 28791858

Recent clinical studies

Etiology

Practice Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2021 Nov;116(5):1255-1265. Epub 2021 Oct 2 doi: 10.1016/j.fertnstert.2021.08.038. PMID: 34607703
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
Bednarska S, Siejka A
Adv Clin Exp Med 2017 Mar-Apr;26(2):359-367. doi: 10.17219/acem/59380. PMID: 28791858
Broughton DE, Moley KH
Fertil Steril 2017 Apr;107(4):840-847. Epub 2017 Mar 11 doi: 10.1016/j.fertnstert.2017.01.017. PMID: 28292619
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

Practice Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2021 Nov;116(5):1255-1265. Epub 2021 Oct 2 doi: 10.1016/j.fertnstert.2021.08.038. PMID: 34607703
Collée J, Mawet M, Tebache L, Nisolle M, Brichant G
Gynecol Endocrinol 2021 Oct;37(10):869-874. Epub 2021 Aug 2 doi: 10.1080/09513590.2021.1958310. PMID: 34338572
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
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
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

Therapy

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
Guan C, Zahid S, Minhas AS, Ouyang P, Vaught A, Baker VL, Michos ED
Fertil Steril 2022 May;117(5):924-935. doi: 10.1016/j.fertnstert.2022.03.009. PMID: 35512976
Collée J, Mawet M, Tebache L, Nisolle M, Brichant G
Gynecol Endocrinol 2021 Oct;37(10):869-874. Epub 2021 Aug 2 doi: 10.1080/09513590.2021.1958310. PMID: 34338572
Broughton DE, Moley KH
Fertil Steril 2017 Apr;107(4):840-847. Epub 2017 Mar 11 doi: 10.1016/j.fertnstert.2017.01.017. PMID: 28292619
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

Aru N, Yang C, Chen Y, Liu J
Front Endocrinol (Lausanne) 2023;14:1326344. Epub 2023 Dec 22 doi: 10.3389/fendo.2023.1326344. PMID: 38189053Free PMC Article
Practice Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2021 Nov;116(5):1255-1265. Epub 2021 Oct 2 doi: 10.1016/j.fertnstert.2021.08.038. PMID: 34607703
Kumariya S, Ubba V, Jha RK, Gayen JR
Autophagy 2021 Oct;17(10):2706-2733. Epub 2021 Jun 23 doi: 10.1080/15548627.2021.1938914. PMID: 34161185Free PMC Article
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article
Dunaif A
Endocr Rev 1997 Dec;18(6):774-800. doi: 10.1210/edrv.18.6.0318. PMID: 9408743

Clinical prediction guides

Guan C, Zahid S, Minhas AS, Ouyang P, Vaught A, Baker VL, Michos ED
Fertil Steril 2022 May;117(5):924-935. doi: 10.1016/j.fertnstert.2022.03.009. PMID: 35512976
Practice Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2021 Nov;116(5):1255-1265. Epub 2021 Oct 2 doi: 10.1016/j.fertnstert.2021.08.038. PMID: 34607703
Kumariya S, Ubba V, Jha RK, Gayen JR
Autophagy 2021 Oct;17(10):2706-2733. Epub 2021 Jun 23 doi: 10.1080/15548627.2021.1938914. PMID: 34161185Free PMC Article
Osibogun O, Ogunmoroti O, Michos ED
Trends Cardiovasc Med 2020 Oct;30(7):399-404. Epub 2019 Sep 4 doi: 10.1016/j.tcm.2019.08.010. PMID: 31519403
Dunaif A
Endocr Rev 1997 Dec;18(6):774-800. doi: 10.1210/edrv.18.6.0318. PMID: 9408743

Recent systematic reviews

Dube R, Kar SS, Jhancy M, George BT
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010120. PMID: 38203291Free PMC Article
Bril F, Ezeh U, Amiri M, Hatoum S, Pace L, Chen YH, Bertrand F, Gower B, Azziz R
J Clin Endocrinol Metab 2023 Dec 21;109(1):10-24. doi: 10.1210/clinem/dgad356. PMID: 37329216Free PMC Article
Chen HA, Grimshaw AA, Taylor-Giorlando M, Vijayakumar P, Li D, Margetts M, Pelosi E, Vash-Margita A
J Ovarian Res 2023 Jan 16;16(1):13. doi: 10.1186/s13048-022-01090-1. PMID: 36642704Free PMC Article
Shojaei-Zarghani S, Rafraf M
Reprod Sci 2022 Sep;29(9):2477-2487. Epub 2021 Jul 26 doi: 10.1007/s43032-021-00653-9. PMID: 34312768
Lee KW, Ching SM, Ramachandran V, Yee A, Hoo FK, Chia YC, Wan Sulaiman WA, Suppiah S, Mohamed MH, Veettil SK
BMC Pregnancy Childbirth 2018 Dec 14;18(1):494. doi: 10.1186/s12884-018-2131-4. PMID: 30547769Free PMC Article

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