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46,XY sex reversal 11(TRS; SRXY11)

MedGen UID:
78602
Concept ID:
C0266427
Disease or Syndrome
Synonyms: Absence of testes; Anorchia; ANORCHIA, FAMILIAL; Congenital absence of testes; Testicular regression syndrome; TESTICULAR REGRESSION, EMBRYONIC; Vanishing testes; Vanishing testis; XY gonadal dysgenesis syndrome
SNOMED CT: Testicular regression - embryonic (53599007); XY Gonadal agenesis syndrome (53599007); Testicular regression syndrome (53599007); Vanishing testes syndrome (53599007)
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).
 
Gene (location): DHX37 (12q24.31)
 
HPO: HP:0012870
Monarch Initiative: MONDO:8000015
OMIM®: 273250
Orphanet: ORPHA983

Definition

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). [from OMIM]

Clinical features

From HPO
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
46,XY sex reversal 11
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).
Aplasia of the uterus
MedGen UID:
98421
Concept ID:
C0425913
Finding
Aplasia of the uterus.
Urogenital sinus anomaly
MedGen UID:
867587
Concept ID:
C4021972
Anatomical Abnormality
A rare birth defect in women where the urethra and vagina both open into a common channel.
Gonadal dysgenesis with female appearance, male
MedGen UID:
893083
Concept ID:
C4024632
Congenital Abnormality
Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.
Abnormal internal genitalia
MedGen UID:
871334
Concept ID:
C4025824
Anatomical Abnormality
An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
Absence of pubertal development
MedGen UID:
375841
Concept ID:
C1846228
Finding
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.
Decreased serum testosterone concentration
MedGen UID:
892974
Concept ID:
C4073137
Finding
Decreased cirrculating antimullerian hormone circulation
MedGen UID:
1391876
Concept ID:
C4476972
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY sex reversal 11
Follow this link to review classifications for 46,XY sex reversal 11 in Orphanet.

Conditions with this feature

46,XY sex reversal 11
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).

Professional guidelines

PubMed

Kanaan BA, Al-Ouqaili MTS, Murshid RM
PeerJ 2023;11:e15267. Epub 2023 May 26 doi: 10.7717/peerj.15267. PMID: 37255590Free PMC Article

Recent clinical studies

Etiology

Chan AO, But WM, Lee CY, Lam YY, Ng KL, Loung PY, Lam A, Cheng CW, Shek CC, Wong WS, Wong KF, Wong MY, Tse WY
Hong Kong Med J 2015 Dec;21(6):499-510. Epub 2015 Oct 16 doi: 10.12809/hkmj144402. PMID: 26492835
Gaspari L, Paris F, Philibert P, Audran F, Orsini M, Servant N, Maïmoun L, Kalfa N, Sultan C
Eur J Endocrinol 2011 Oct;165(4):579-87. Epub 2011 Jul 25 doi: 10.1530/EJE-11-0580. PMID: 21788424
Ismail SI, Mazen IA
Sex Dev 2010 Sep;4(4-5):285-91. Epub 2010 Jul 24 doi: 10.1159/000317120. PMID: 20664246
Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A
Eur J Hum Genet 2009 Nov;17(11):1439-47. Epub 2009 May 6 doi: 10.1038/ejhg.2009.70. PMID: 19417767Free PMC Article
Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM
Am J Med Genet A 2007 Nov 15;143A(22):2692-5. doi: 10.1002/ajmg.a.31997. PMID: 17935232

Diagnosis

Kanaan BA, Al-Ouqaili MTS, Murshid RM
PeerJ 2023;11:e15267. Epub 2023 May 26 doi: 10.7717/peerj.15267. PMID: 37255590Free PMC Article
Huang Z, Ye J, Han L, Qiu W, Zhang H, Yu Y, Liang L, Gong Z, Gu X
Steroids 2016 Apr;108:85-91. Epub 2016 Jan 28 doi: 10.1016/j.steroids.2016.01.016. PMID: 26827627
Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA
Am J Med Genet A 2013 Oct;161A(10):2487-94. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36084. PMID: 23918653Free PMC Article
Tee MK, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckingham B, Strauss JF 3rd, Miller WL
Hum Mol Genet 1995 Dec;4(12):2299-305. doi: 10.1093/hmg/4.12.2299. PMID: 8634702
Hawkins JR
Hum Mutat 1993;2(5):347-50. doi: 10.1002/humu.1380020504. PMID: 8257986

Therapy

Gaspari L, Paris F, Philibert P, Audran F, Orsini M, Servant N, Maïmoun L, Kalfa N, Sultan C
Eur J Endocrinol 2011 Oct;165(4):579-87. Epub 2011 Jul 25 doi: 10.1530/EJE-11-0580. PMID: 21788424

Prognosis

Fan W, Wang B, He S, Zhang T, Yin C, Chen Y, Zheng S, Zhang J, Li L
PLoS One 2016;11(12):e0168484. Epub 2016 Dec 28 doi: 10.1371/journal.pone.0168484. PMID: 28030592Free PMC Article
Huang Z, Ye J, Han L, Qiu W, Zhang H, Yu Y, Liang L, Gong Z, Gu X
Steroids 2016 Apr;108:85-91. Epub 2016 Jan 28 doi: 10.1016/j.steroids.2016.01.016. PMID: 26827627

Clinical prediction guides

Livermore C, Simon M, Reeves R, Stévant I, Nef S, Pope M, Mallon AM, Wells S, Warr N, Greenfield A
Genetics 2020 Feb;214(2):467-477. Epub 2019 Dec 13 doi: 10.1534/genetics.119.302786. PMID: 31836612Free PMC Article
Fan W, Wang B, He S, Zhang T, Yin C, Chen Y, Zheng S, Zhang J, Li L
PLoS One 2016;11(12):e0168484. Epub 2016 Dec 28 doi: 10.1371/journal.pone.0168484. PMID: 28030592Free PMC Article
Huang Z, Ye J, Han L, Qiu W, Zhang H, Yu Y, Liang L, Gong Z, Gu X
Steroids 2016 Apr;108:85-91. Epub 2016 Jan 28 doi: 10.1016/j.steroids.2016.01.016. PMID: 26827627
Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM
Am J Med Genet A 2007 Nov 15;143A(22):2692-5. doi: 10.1002/ajmg.a.31997. PMID: 17935232
Rajender S, Thangaraj K, Gupta NJ, Leelavathy N, Rani DS, Nambiar RG, Kalavathy V, Santhiya ST, Rajangam S, Gopinath PM, Chakravarty B, Singh L
J Clin Endocrinol Metab 2006 Oct;91(10):4028-36. Epub 2006 Jul 25 doi: 10.1210/jc.2006-0950. PMID: 16868052

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