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Gonadal agenesis

MedGen UID:
181797
•Concept ID:
C0949331
•
Congenital Abnormality
Synonym: Gonadal Agenesis
 
Monarch Initiative: MONDO:0010838
OMIM®: 600171

Definition

A congenital disorder characterized by the complete absence of gonadal tissue. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGonadal agenesis

Professional guidelines

PubMed

Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Turner syndrome: diagnosis and management.
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Recent clinical studies

Etiology

Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
The influence of age and sex on the metabolism of testosterone.
Zumoff B, Bradlow HL, Finkelstein J, Boyar RM, Hellman L
J Clin Endocrinol Metab 1976 Apr;42(4):703-6. doi: 10.1210/jcem-42-4-703. PMID: 1262444

Diagnosis

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.
Huang YC, Lee CT, Wu MZ, Liu SY, Tung YC, Ho HN, Tsai WY
J Formos Med Assoc 2019 Jan;118(1 Pt 3):450-456. Epub 2018 Jul 14 doi: 10.1016/j.jfma.2018.07.003. PMID: 30017534
Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins.
Miolo G, Del Pup L, Ash A, Manno M, Pivetta B, Tessitori G, Corona G
Gynecol Endocrinol 2016 Oct;32(10):792-795. Epub 2016 Jul 5 doi: 10.1080/09513590.2016.1197199. PMID: 27379817
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT 2nd
Am J Med Genet A 2014 Aug;164A(8):1998-2002. Epub 2014 May 20 doi: 10.1002/ajmg.a.36601. PMID: 24844942
Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
Pure XY gonadal dysgenesis and agenesis in monozygotic twins.
Chen HY, Huang HY, Chang TC, Lai CH, Soong YK
Fertil Steril 2006 Apr;85(4):1059.e9-11. doi: 10.1016/j.fertnstert.2005.09.054. PMID: 16580399

Therapy

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.
Huang YC, Lee CT, Wu MZ, Liu SY, Tung YC, Ho HN, Tsai WY
J Formos Med Assoc 2019 Jan;118(1 Pt 3):450-456. Epub 2018 Jul 14 doi: 10.1016/j.jfma.2018.07.003. PMID: 30017534
A rare case of rudimentary uterus with absence of both ovaries and 46,XX normal karyotype without mosaicism.
Dede M, Gezginç K, Ulubay M, Alanbay I, Yenen M
Taiwan J Obstet Gynecol 2008 Mar;47(1):84-6. doi: 10.1016/S1028-4559(08)60060-1. PMID: 18400588
Two cases of 17 alpha-hydroxylase deficiency--one combined with complete gonadal agenesis.
Tvedegaard E, Frederiksen V, Olgaard K, Nielsen MD, Starup J
Acta Endocrinol (Copenh) 1981 Oct;98(2):267-73. doi: 10.1530/acta.0.0980267. PMID: 6270940
Lack of correlation between gonadotropin and adrenal androgen levels in agonadal children.
Lee PA, Kowarski A, Migeon CJ, Blizzard RM
J Clin Endocrinol Metab 1975 Apr;40(4):664-9. doi: 10.1210/jcem-40-4-664. PMID: 165213
Gynecologic and cytogenetic aspects of gonadal agenesis and dysgenesis.
Barakat BY, Jones HW Jr
Obstet Gynecol 1970 Sep;36(3):368-72. PMID: 5451134

Clinical prediction guides

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.
Huang YC, Lee CT, Wu MZ, Liu SY, Tung YC, Ho HN, Tsai WY
J Formos Med Assoc 2019 Jan;118(1 Pt 3):450-456. Epub 2018 Jul 14 doi: 10.1016/j.jfma.2018.07.003. PMID: 30017534
Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins.
Miolo G, Del Pup L, Ash A, Manno M, Pivetta B, Tessitori G, Corona G
Gynecol Endocrinol 2016 Oct;32(10):792-795. Epub 2016 Jul 5 doi: 10.1080/09513590.2016.1197199. PMID: 27379817
Convergence of Wnt signaling and steroidogenic factor-1 (SF-1) on transcription of the rat inhibin alpha gene.
Gummow BM, Winnay JN, Hammer GD
J Biol Chem 2003 Jul 18;278(29):26572-9. Epub 2003 May 5 doi: 10.1074/jbc.M212677200. PMID: 12732619
Sexual differentiation of the hypothalamus in gonadal agenesis and testicular feminization.
Mühlenstedt D, Schneider HP
Arch Gynecol 1979 Aug;227(2):97-102. doi: 10.1007/BF02103283. PMID: 485227
The influence of age and sex on the metabolism of testosterone.
Zumoff B, Bradlow HL, Finkelstein J, Boyar RM, Hellman L
J Clin Endocrinol Metab 1976 Apr;42(4):703-6. doi: 10.1210/jcem-42-4-703. PMID: 1262444

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    Related information

    • ClinVar
      Related medical variations
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    • OMIM
      Related records in OMIM
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