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Hypospadias 3, autosomal(HYSP3)

MedGen UID:
382538
•Concept ID:
C2675154
•
Disease or Syndrome
Synonym: HYSP3
 
Monarch Initiative: MONDO:0007802
OMIM®: 146450

Clinical features

From HPO
Hypospadias
MedGen UID:
163083
•Concept ID:
C0848558
•
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
See: Feature record | Search on this feature

Professional guidelines

PubMed

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846

Recent clinical studies

Etiology

Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report.
Chen J, Zhang Z, Shi W, Yan Q, Bi X, Zhu P, Zhang D, Wu X
Medicine (Baltimore) 2023 Nov 17;102(46):e36171. doi: 10.1097/MD.0000000000036171. PMID: 37986304Free PMC Article
Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study.
Nordenström A, Butwicka A, Lindén Hirschberg A, Almqvist C, Nordenskjöld A, Falhammar H, Frisén L
Clin Endocrinol (Oxf) 2017 Mar;86(3):317-324. Epub 2016 Oct 17 doi: 10.1111/cen.13242. PMID: 27654981
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M
J Pediatr Urol 2014 Oct;10(5):804-9. Epub 2014 Feb 13 doi: 10.1016/j.jpurol.2014.01.013. PMID: 24582571
Genetic effects of intracytoplasmic sperm injection.
Simpson JL, Lamb DJ
Semin Reprod Med 2001 Sep;19(3):239-49. doi: 10.1055/s-2001-18043. PMID: 11679905
Is routine karyotyping necessary in the evaluation of hypospadias and cryptorchidism?
McAleer IM, Kaplan GW
J Urol 2001 Jun;165(6 Pt 1):2029-31; discussion 2031-2. doi: 10.1097/00005392-200106000-00063. PMID: 11371923

Diagnosis

Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report.
Chen J, Zhang Z, Shi W, Yan Q, Bi X, Zhu P, Zhang D, Wu X
Medicine (Baltimore) 2023 Nov 17;102(46):e36171. doi: 10.1097/MD.0000000000036171. PMID: 37986304Free PMC Article
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846
Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study.
Nordenström A, Butwicka A, Lindén Hirschberg A, Almqvist C, Nordenskjöld A, Falhammar H, Frisén L
Clin Endocrinol (Oxf) 2017 Mar;86(3):317-324. Epub 2016 Oct 17 doi: 10.1111/cen.13242. PMID: 27654981
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M
J Pediatr Urol 2014 Oct;10(5):804-9. Epub 2014 Feb 13 doi: 10.1016/j.jpurol.2014.01.013. PMID: 24582571
Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish village.
Akgun S, Ertel NH, Imperato-McGinley J, Sayli BS, Shackleton C
Am J Med 1986 Aug;81(2):267-74. doi: 10.1016/0002-9343(86)90262-7. PMID: 3740084

Therapy

Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children.
Tran TCM, Tran TNA, Le HBN, Nguyen VH, Tran MD, Vu CD, Greaves RF
Clin Chem Lab Med 2022 Jul 26;60(8):1225-1233. Epub 2022 May 24 doi: 10.1515/cclm-2022-0272. PMID: 35607271
Genetic effects of intracytoplasmic sperm injection.
Simpson JL, Lamb DJ
Semin Reprod Med 2001 Sep;19(3):239-49. doi: 10.1055/s-2001-18043. PMID: 11679905

Prognosis

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
Rossi M, Vasiljevic A, Labalme A, Dijoud F, Mallet-Motak D, Petcu CA, Touraine R, Vianey-Saban C, Guibaud L, Edery P, Sanlaville D, Morel Y
Am J Med Genet A 2017 Mar;173(3):654-660. Epub 2017 Feb 4 doi: 10.1002/ajmg.a.38093. PMID: 28160395
The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location.
Cox MJ, Coplen DE, Austin PF
J Urol 2008 Dec;180(6):2649-52; discussion 2652. Epub 2008 Oct 31 doi: 10.1016/j.juro.2008.08.058. PMID: 18951572
Severe Hajdu-Cheney syndrome with upper airway obstruction.
Crifasi PA, Patterson MC, Bonde D, Michels VV
Am J Med Genet 1997 Jun 13;70(3):261-6. PMID: 9188663
VATER and hydrocephalus: distinct syndrome?
Iafolla AK, McConkie-Rosell A, Chen YT
Am J Med Genet 1991 Jan;38(1):46-51. doi: 10.1002/ajmg.1320380112. PMID: 2012132
G syndrome: an unusual family.
Allanson JE
Am J Med Genet 1988 Nov;31(3):637-42. doi: 10.1002/ajmg.1320310319. PMID: 3228142

Clinical prediction guides

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL
Am J Hum Genet 2005 Jul;77(1):154-60. Epub 2005 May 25 doi: 10.1086/431653. PMID: 15918153Free PMC Article
VATER and hydrocephalus: distinct syndrome?
Iafolla AK, McConkie-Rosell A, Chen YT
Am J Med Genet 1991 Jan;38(1):46-51. doi: 10.1002/ajmg.1320380112. PMID: 2012132
Ring chromosome 12.
Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH
Am J Med Genet 1988 Feb;29(2):437-40. doi: 10.1002/ajmg.1320290228. PMID: 3354616
G syndrome: an unusual family.
Allanson JE
Am J Med Genet 1988 Nov;31(3):637-42. doi: 10.1002/ajmg.1320310319. PMID: 3228142

Supplemental Content

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