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46,XY sex reversal 8(SRXY8)

MedGen UID:
333416
Concept ID:
C1839840
Disease or Syndrome
Synonyms: 46,XY SEX REVERSAL 8, MODIFIER OF; MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; SRXY8
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): AKR1C2 (10p15.1); AKR1C4 (10p15.1)
OMIM®: 614279
Orphanet: ORPHA443087

Clinical features

Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Male pseudohermaphroditism
MedGen UID:
68666
Concept ID:
C0238395
Congenital Abnormality
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Male pseudohermaphroditism
MedGen UID:
68666
Concept ID:
C0238395
Congenital Abnormality
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
Ambiguous genitalia
MedGen UID:
78596
Concept ID:
C0266362
Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY sex reversal 8
Follow this link to review classifications for 46,XY sex reversal 8 in Orphanet.

Recent clinical studies

Etiology

Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, Karaman A, Devranoglu B
Eur J Obstet Gynecol Reprod Biol 2014 Nov;182:211-5. Epub 2014 Sep 28 doi: 10.1016/j.ejogrb.2014.09.033. PMID: 25445102
Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP
Arq Bras Endocrinol Metabol 2012 Nov;56(8):525-32. PMID: 23295293
Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P
Am J Hum Genet 2005 Apr;76(4):652-62. Epub 2005 Feb 22 doi: 10.1086/429252. PMID: 15726498Free PMC Article
Domenice S, Corrêa RV, Costa EM, Nishi MY, Vilain E, Arnhold IJ, Mendonca BB
Braz J Med Biol Res 2004 Jan;37(1):145-50. Epub 2003 Dec 18 PMID: 14689056
Murphy EC, Zhurkin VB, Louis JM, Cornilescu G, Clore GM
J Mol Biol 2001 Sep 21;312(3):481-99. doi: 10.1006/jmbi.2001.4977. PMID: 11563911

Diagnosis

John AM, Natarajan V, Srivastava V, George A, Rajaratnam S
J Assoc Physicians India 2014 Aug;62(8):753-5. PMID: 25856956
Piard J, Mignot B, Arbez-Gindre F, Aubert D, Morel Y, Roze V, McElreavy K, Jonveaux P, Valduga M, Van Maldergem L
Am J Med Genet A 2014 Oct;164A(10):2618-22. Epub 2014 Jun 26 doi: 10.1002/ajmg.a.36662. PMID: 24975717
Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP
Arq Bras Endocrinol Metabol 2012 Nov;56(8):525-32. PMID: 23295293
Cost NG, Ludwig AT, Wilcox DT, Rakheja D, Steinberg SJ, Baker LA
J Pediatr Surg 2009 Feb;44(2):451-4. doi: 10.1016/j.jpedsurg.2008.10.003. PMID: 19231556
Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI
J Pediatr Endocrinol Metab 2005 Aug;18(8):739-48. PMID: 16200839

Clinical prediction guides

Piard J, Mignot B, Arbez-Gindre F, Aubert D, Morel Y, Roze V, McElreavy K, Jonveaux P, Valduga M, Van Maldergem L
Am J Med Genet A 2014 Oct;164A(10):2618-22. Epub 2014 Jun 26 doi: 10.1002/ajmg.a.36662. PMID: 24975717
Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI
J Pediatr Endocrinol Metab 2005 Aug;18(8):739-48. PMID: 16200839
Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P
Am J Hum Genet 2005 Apr;76(4):652-62. Epub 2005 Feb 22 doi: 10.1086/429252. PMID: 15726498Free PMC Article
McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL
Am J Med Genet 1997 Dec 19;73(3):321-6. PMID: 9415692
Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K
Am J Hum Genet 1996 Jun;58(6):1185-91. PMID: 8651295Free PMC Article

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