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46 XX gonadal dysgenesis

MedGen UID:
146899
•Concept ID:
C0685837
•
Congenital Abnormality
Synonym: 46,XX gonadal dysgenesis
SNOMED CT: Pure gonadal dysgenesis 46,XX (95198001); Ovarian dysgenesis with normal chromosomes (95198001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0009299
OMIM® Phenotypic series: PS233300
Orphanet: ORPHA243

Definition

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46 XX gonadal dysgenesis

Professional guidelines

PubMed

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.
Huang H, Wang CQ, Tian QJ
Gynecol Endocrinol 2016 Dec;32(12):995-998. Epub 2016 Jun 2 doi: 10.1080/09513590.2016.1190820. PMID: 27250571

Recent clinical studies

Etiology

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
Röhle R, Gehrmann K, Szarras-Czapnik M, Claahsen-van der Grinten H, Pienkowski C, Bouvattier C, Cohen-Kettenis P, Nordenström A, Thyen U, Köhler B; dsd-LIFE group
BMC Endocr Disord 2017 Aug 18;17(1):52. doi: 10.1186/s12902-017-0198-y. PMID: 28821302Free PMC Article
A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism.
Ostberg JE, Storry C, Donald AE, Attar MJ, Halcox JP, Conway GS
Clin Endocrinol (Oxf) 2007 Apr;66(4):557-64. doi: 10.1111/j.1365-2265.2007.02772.x. PMID: 17371475
No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis.
de la Chesnaye E, Canto P, Ulloa-Aguirre A, Méndez JP
Am J Med Genet 2001 Jan 15;98(2):125-8. doi: 10.1002/1096-8628(20010115)98:2<125::aid-ajmg1020>3.0.co;2-i. PMID: 11223847
Final height of girls with Turner's syndrome: correlation with karyotype and parental height.
Cohen A, Kauli R, Pertzelan A, Lavagetto A, Roitmano Y, Romano C, Laron Z
Acta Paediatr 1995 May;84(5):550-4. doi: 10.1111/j.1651-2227.1995.tb13693.x. PMID: 7633152

Diagnosis

Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature.
Opdecam L, Barudy Vasquez J, Camerlinck M, Makar A
J Obstet Gynaecol 2021 Oct;41(7):1164-1165. Epub 2020 Oct 15 doi: 10.1080/01443615.2020.1798908. PMID: 33054466
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E
Hum Reprod 2016 Apr;31(4):905-14. Epub 2016 Feb 23 doi: 10.1093/humrep/dew025. PMID: 26911863Free PMC Article
A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.
Xiao B, Ji X, Xing Y, Chen YW, Tao J
Eur J Med Genet 2013 Dec;56(12):695-8. Epub 2013 Oct 18 doi: 10.1016/j.ejmg.2013.10.001. PMID: 24140641
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.
Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR
Am J Med Genet 2001 Jan 15;98(2):121-4. doi: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4. PMID: 11223846
Familial 46,XX gonadal dysgenesis.
Aleem FA
Fertil Steril 1981 Mar;35(3):317-20. doi: 10.1016/s0015-0282(16)45378-1. PMID: 7202756

Therapy

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
Röhle R, Gehrmann K, Szarras-Czapnik M, Claahsen-van der Grinten H, Pienkowski C, Bouvattier C, Cohen-Kettenis P, Nordenström A, Thyen U, Köhler B; dsd-LIFE group
BMC Endocr Disord 2017 Aug 18;17(1):52. doi: 10.1186/s12902-017-0198-y. PMID: 28821302Free PMC Article
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560
A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism.
Ostberg JE, Storry C, Donald AE, Attar MJ, Halcox JP, Conway GS
Clin Endocrinol (Oxf) 2007 Apr;66(4):557-64. doi: 10.1111/j.1365-2265.2007.02772.x. PMID: 17371475
Familial 46,XX gonadal dysgenesis.
Portuondo JA, Neyro JL, Benito JA, de los Rios A, Barral A
Int J Fertil 1987 Jan-Feb;32(1):56-8. PMID: 2880817

Prognosis

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).
Narayanan VK, Kharbanda M, Donaldson M
J Pediatr Endocrinol Metab 2016 Dec 1;29(12):1407-1412. doi: 10.1515/jpem-2016-0182. PMID: 27824615
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E
Hum Reprod 2016 Apr;31(4):905-14. Epub 2016 Feb 23 doi: 10.1093/humrep/dew025. PMID: 26911863Free PMC Article
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262

Clinical prediction guides

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).
Narayanan VK, Kharbanda M, Donaldson M
J Pediatr Endocrinol Metab 2016 Dec 1;29(12):1407-1412. doi: 10.1515/jpem-2016-0182. PMID: 27824615
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A
N Engl J Med 2009 Mar 19;360(12):1200-10. Epub 2009 Feb 25 doi: 10.1056/NEJMoa0806228. PMID: 19246354Free PMC Article
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262
Final height of girls with Turner's syndrome: correlation with karyotype and parental height.
Cohen A, Kauli R, Pertzelan A, Lavagetto A, Roitmano Y, Romano C, Laron Z
Acta Paediatr 1995 May;84(5):550-4. doi: 10.1111/j.1651-2227.1995.tb13693.x. PMID: 7633152

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