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Decreased cirrculating antimullerian hormone circulation

MedGen UID:
1391876
Concept ID:
C4476972
Finding
Synonyms: Anti-Mullerian hormone low; Decreased antimullerian hormone level; Decreased plasma AMH
 
HPO: HP:0031103

Definition

A reduction below the normal range of the antimullerian hormone in the circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased cirrculating antimullerian hormone circulation

Conditions with this feature

Vanishing testis
MedGen UID:
78602
Concept ID:
C0266427
Disease or Syndrome
SRXY11 is characterized by a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity depending on the duration of normal testicular function prior to the loss of testicular tissue. Approximately half of patients present with micropenis and bilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia (da Silva et al., 2019; McElreavey et al., 2020). The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984).
Persistent Mullerian duct syndrome
MedGen UID:
342367
Concept ID:
C1849930
Anatomical Abnormality
The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991).
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
MedGen UID:
463207
Concept ID:
C3151857
Disease or Syndrome
This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Premature ovarian failure 15
MedGen UID:
1648369
Concept ID:
C4748170
Disease or Syndrome
Premature ovarian failure-15 (POF15) is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones (Fouquet et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Ovarian dysgenesis 8
MedGen UID:
1648455
Concept ID:
C4748626
Disease or Syndrome
Ovarian dysgenesis-8 (ODG8) is characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis (Lang-Muritano et al., 2018). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Premature ovarian failure 17
MedGen UID:
1748767
Concept ID:
C5436889
Disease or Syndrome
Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019). For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
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).
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).

Recent clinical studies

Etiology

Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Xia X, Burn MS, Chen Y, Karakaya C, Kallen A
Reprod Biol Endocrinol 2020 May 13;18(1):46. doi: 10.1186/s12958-020-00578-z. PMID: 32404103Free PMC Article
Uliani RC, Conley AJ, Corbin CJ, Friso AM, Maciel LFS, Alvarenga MA
J Endocrinol 2019 Feb 1;240(2):147-156. doi: 10.1530/JOE-18-0391. PMID: 30400031
Anderson C, Mark Park YM, Stanczyk FZ, Sandler DP, Nichols HB
Fertil Steril 2018 Nov;110(6):1145-1153. doi: 10.1016/j.fertnstert.2018.06.037. PMID: 30396559Free PMC Article
Jung S, Allen N, Arslan AA, Baglietto L, Brinton LA, Egleston BL, Falk R, Fortner RT, Helzlsouer KJ, Idahl A, Kaaks R, Lundin E, Merritt M, Onland-Moret C, Rinaldi S, Sánchez MJ, Sieri S, Schock H, Shu XO, Sluss PM, Staats PN, Travis RC, Tjønneland A, Trichopoulou A, Tworoger S, Visvanathan K, Krogh V, Weiderpass E, Zeleniuch-Jacquotte A, Zheng W, Dorgan JF
Fertil Steril 2017 Apr;107(4):1012-1022.e2. doi: 10.1016/j.fertnstert.2017.02.105. PMID: 28366409Free PMC Article

Diagnosis

Zhou J, Pan XY, Lin J, Zhou Q, Lan LK, Zhu J, Duan R, Wang L, Sun Y, Wang L
Chin J Integr Med 2022 Mar;28(3):195-201. Epub 2021 Jan 9 doi: 10.1007/s11655-020-3484-x. PMID: 33423188
Racoubian E, Aimagambetova G, Finan RR, Almawi WY
BMC Womens Health 2020 Jun 26;20(1):134. doi: 10.1186/s12905-020-00998-4. PMID: 32586307Free PMC Article
Xia X, Burn MS, Chen Y, Karakaya C, Kallen A
Reprod Biol Endocrinol 2020 May 13;18(1):46. doi: 10.1186/s12958-020-00578-z. PMID: 32404103Free PMC Article
Grinspon RP, Loreti N, Braslavsky D, Bedecarrás P, Ambao V, Gottlieb S, Bergadá I, Campo SM, Rey RA
J Pediatr Endocrinol Metab 2012;25(1-2):3-11. doi: 10.1515/jpem-2011-0453. PMID: 22570945
Zec I, Tislaric-Medenjak D, Megla ZB, Kucak I
Biochem Med (Zagreb) 2011;21(3):219-30. doi: 10.11613/bm.2011.031. PMID: 22420235

Therapy

Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Zhou J, Pan XY, Lin J, Zhou Q, Lan LK, Zhu J, Duan R, Wang L, Sun Y, Wang L
Chin J Integr Med 2022 Mar;28(3):195-201. Epub 2021 Jan 9 doi: 10.1007/s11655-020-3484-x. PMID: 33423188
Xia X, Burn MS, Chen Y, Karakaya C, Kallen A
Reprod Biol Endocrinol 2020 May 13;18(1):46. doi: 10.1186/s12958-020-00578-z. PMID: 32404103Free PMC Article
Anderson C, Mark Park YM, Stanczyk FZ, Sandler DP, Nichols HB
Fertil Steril 2018 Nov;110(6):1145-1153. doi: 10.1016/j.fertnstert.2018.06.037. PMID: 30396559Free PMC Article
Jung S, Allen N, Arslan AA, Baglietto L, Brinton LA, Egleston BL, Falk R, Fortner RT, Helzlsouer KJ, Idahl A, Kaaks R, Lundin E, Merritt M, Onland-Moret C, Rinaldi S, Sánchez MJ, Sieri S, Schock H, Shu XO, Sluss PM, Staats PN, Travis RC, Tjønneland A, Trichopoulou A, Tworoger S, Visvanathan K, Krogh V, Weiderpass E, Zeleniuch-Jacquotte A, Zheng W, Dorgan JF
Fertil Steril 2017 Apr;107(4):1012-1022.e2. doi: 10.1016/j.fertnstert.2017.02.105. PMID: 28366409Free PMC Article

Prognosis

Tennilä J, Jääskeläinen J, Utriainen P, Voutilainen R, Häkkinen M, Auriola S, Morin-Papunen L, Liimatta J
J Clin Endocrinol Metab 2021 Aug 18;106(9):e3335-e3345. doi: 10.1210/clinem/dgab385. PMID: 34060603Free PMC Article
Racoubian E, Aimagambetova G, Finan RR, Almawi WY
BMC Womens Health 2020 Jun 26;20(1):134. doi: 10.1186/s12905-020-00998-4. PMID: 32586307Free PMC Article
Bry-Gauillard H, Larrat-Ledoux F, Levaillant JM, Massin N, Maione L, Beau I, Binart N, Chanson P, Brailly-Tabard S, Hall JE, Young J
J Clin Endocrinol Metab 2017 Apr 1;102(4):1102-1111. doi: 10.1210/jc.2016-3799. PMID: 28324034
Raffi F, Metwally M, Amer S
J Clin Endocrinol Metab 2012 Sep;97(9):3146-54. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1558. PMID: 22723324
Nardo LG, Gelbaya TA, Wilkinson H, Roberts SA, Yates A, Pemberton P, Laing I
Fertil Steril 2009 Nov;92(5):1586-93. Epub 2008 Oct 18 doi: 10.1016/j.fertnstert.2008.08.127. PMID: 18930213

Clinical prediction guides

Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Zhou J, Pan XY, Lin J, Zhou Q, Lan LK, Zhu J, Duan R, Wang L, Sun Y, Wang L
Chin J Integr Med 2022 Mar;28(3):195-201. Epub 2021 Jan 9 doi: 10.1007/s11655-020-3484-x. PMID: 33423188
Racoubian E, Aimagambetova G, Finan RR, Almawi WY
BMC Womens Health 2020 Jun 26;20(1):134. doi: 10.1186/s12905-020-00998-4. PMID: 32586307Free PMC Article
Anderson C, Mark Park YM, Stanczyk FZ, Sandler DP, Nichols HB
Fertil Steril 2018 Nov;110(6):1145-1153. doi: 10.1016/j.fertnstert.2018.06.037. PMID: 30396559Free PMC Article
Hero M, Tommiska J, Vaaralahti K, Laitinen EM, Sipilä I, Puhakka L, Dunkel L, Raivio T
Fertil Steril 2012 May;97(5):1242-7. Epub 2012 Mar 9 doi: 10.1016/j.fertnstert.2012.02.020. PMID: 22405597

Recent systematic reviews

Zhao L, Pang A
Front Endocrinol (Lausanne) 2020;11:428. Epub 2020 Aug 11 doi: 10.3389/fendo.2020.00428. PMID: 32849258Free PMC Article
Raffi F, Metwally M, Amer S
J Clin Endocrinol Metab 2012 Sep;97(9):3146-54. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1558. PMID: 22723324

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