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46,XY disorder of sex development due to testicular 17,20-desmolase deficiency(SRXY8; TDD)

MedGen UID:
333416
Concept ID:
C1839840
Disease or Syndrome
Synonyms: 46,XY sex reversal 8; 46,XY SEX REVERSAL 8, MODIFIER OF; MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
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).
 
Genes (locations): AKR1C2 (10p15.1); AKR1C4 (10p15.1)
 
Monarch Initiative: MONDO:0013664
OMIM®: 614279
Orphanet: ORPHA443087

Clinical features

From HPO
Cryptorchidism
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
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 disorder of sex development due to testicular 17,20-desmolase deficiency
Follow this link to review classifications for 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency in Orphanet.

Recent clinical studies

Etiology

Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T
J Steroid Biochem Mol Biol 2018 Apr;178:177-184. Epub 2017 Dec 28 doi: 10.1016/j.jsbmb.2017.12.008. PMID: 29289577
Mashchak CA, Kletzky OA, Davajan V, Mishell DR Jr
Obstet Gynecol 1981 Jun;57(6):715-21. PMID: 6785680

Diagnosis

Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T
J Steroid Biochem Mol Biol 2018 Apr;178:177-184. Epub 2017 Dec 28 doi: 10.1016/j.jsbmb.2017.12.008. PMID: 29289577
Koika V, Armeni AK, Georgopoulos NA
Hormones (Athens) 2016 Apr;15(2):277-282. doi: 10.14310/horm.2002.1679. PMID: 27376429
Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T
Horm Res 2001;55(3):141-6. doi: 10.1159/000049986. PMID: 11549876
Shore RM, Lieberman LM, Newman TJ, Friedman A, Bargman GJ
Clin Nucl Med 1981 Jul;6(7):310-2. doi: 10.1097/00003072-198107000-00006. PMID: 7016381
Heremans GF, Moolenaar AJ, van Gelderen HH
Arch Dis Child 1976 Sep;51(9):721-3. doi: 10.1136/adc.51.9.721. PMID: 999330Free PMC Article

Therapy

Shore RM, Lieberman LM, Newman TJ, Friedman A, Bargman GJ
Clin Nucl Med 1981 Jul;6(7):310-2. doi: 10.1097/00003072-198107000-00006. PMID: 7016381

Prognosis

Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T
J Steroid Biochem Mol Biol 2018 Apr;178:177-184. Epub 2017 Dec 28 doi: 10.1016/j.jsbmb.2017.12.008. PMID: 29289577
Koika V, Armeni AK, Georgopoulos NA
Hormones (Athens) 2016 Apr;15(2):277-282. doi: 10.14310/horm.2002.1679. PMID: 27376429
Shore RM, Lieberman LM, Newman TJ, Friedman A, Bargman GJ
Clin Nucl Med 1981 Jul;6(7):310-2. doi: 10.1097/00003072-198107000-00006. PMID: 7016381

Clinical prediction guides

Koika V, Armeni AK, Georgopoulos NA
Hormones (Athens) 2016 Apr;15(2):277-282. doi: 10.14310/horm.2002.1679. PMID: 27376429

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