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Perineal hypospadias

MedGen UID:
105292
Concept ID:
C0452148
Congenital Abnormality
Synonym: Hypospadias, perineal
SNOMED CT: Perineal hypospadias (204890004)
 
HPO: HP:0000051

Definition

Hypospadias with location of the urethral meatus in the perineal region. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPerineal hypospadias

Conditions with this feature

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
MedGen UID:
75667
Concept ID:
C0268297
Disease or Syndrome
Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
Partial androgen insensitivity syndrome
MedGen UID:
82785
Concept ID:
C0268301
Disease or Syndrome
Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015).
3 beta-Hydroxysteroid dehydrogenase deficiency
MedGen UID:
452446
Concept ID:
C0342471
Disease or Syndrome
Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).
SCARF syndrome
MedGen UID:
326461
Concept ID:
C1839321
Disease or Syndrome
Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
Hypospadias 1, X-linked
MedGen UID:
394735
Concept ID:
C2678098
Disease or Syndrome
Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000). Genetic Heterogeneity of Hypospadias See also HYSP2 (300758), caused by mutation in the MAMLD1 gene (300120) on chromosome Xq28; HYSP3 (146450), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (300856), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (300837).
46,XX sex reversal 2
MedGen UID:
411414
Concept ID:
C2749215
Disease or Syndrome
Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.
Testicular anomalies with or without congenital heart disease
MedGen UID:
816188
Concept ID:
C3809858
Disease or Syndrome
46,XY sex reversal 10
MedGen UID:
897538
Concept ID:
C4225331
Disease or Syndrome
46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).

Professional guidelines

PubMed

Ahmeti H, Kolgeci S, Arifi H, Jaha L
Bosn J Basic Med Sci 2009 Aug;9(3):229-34. doi: 10.17305/bjbms.2009.2812. PMID: 19754479Free PMC Article

Recent clinical studies

Etiology

Fawzy M, Marcou M, Sennert M, Wirmer J, Wullich B, T Hadidi A
J Pediatr Urol 2023 Dec;19(6):698.e1-698.e8. Epub 2023 Jul 24 doi: 10.1016/j.jpurol.2023.07.015. PMID: 37524573
Nguyen S, Durbin-Johnson B, Kurzrock EA
J Urol 2021 Jun;205(6):1778-1784. Epub 2021 Feb 2 doi: 10.1097/JU.0000000000001569. PMID: 33525924
Johnson EK, Jacobson DL, Finlayson C, Yerkes EB, Goetsch AL, Leeth EA, Cheng EY
J Urol 2020 Aug;204(2):345-352. Epub 2020 Feb 24 doi: 10.1097/JU.0000000000000810. PMID: 32091304
Wolffenbuttel KP, Holmdahl G
J Pediatr Urol 2019 Dec;15(6):626.e1-626.e5. Epub 2019 Sep 10 doi: 10.1016/j.jpurol.2019.09.002. PMID: 31582336
Sharma AK, Goel D, Kothari SK
Pediatr Surg Int 1999;15(3-4):227-9. doi: 10.1007/s003830050562. PMID: 10370030

Diagnosis

Johnson EK, Jacobson DL, Finlayson C, Yerkes EB, Goetsch AL, Leeth EA, Cheng EY
J Urol 2020 Aug;204(2):345-352. Epub 2020 Feb 24 doi: 10.1097/JU.0000000000000810. PMID: 32091304
Snodgrass W, Bush NC
J Pediatr Urol 2019 Aug;15(4):344.e1-344.e6. Epub 2019 Apr 3 doi: 10.1016/j.jpurol.2019.03.028. PMID: 31068257
Nagaraja MR, Gubbala SP, Delphine Silvia CRW, Amanchy R
Syst Biol Reprod Med 2019 Apr;65(2):105-120. Epub 2018 Dec 14 doi: 10.1080/19396368.2018.1549619. PMID: 30550360
Bernabé KJ, Nokoff NJ, Galan D, Felsen D, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Ellens R, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Delozier AM, Mullins LL, Palmer B, Paradis A, Reddy P, Reyes KJS, Schulte M, Swartz JM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, Poppas DP
J Pediatr Urol 2018 Apr;14(2):157.e1-157.e8. Epub 2018 Feb 2 doi: 10.1016/j.jpurol.2017.11.019. PMID: 29398588Free PMC Article
Lee OT, Durbin-Johnson B, Kurzrock EA
J Urol 2013 Jul;190(1):251-5. Epub 2013 Feb 1 doi: 10.1016/j.juro.2013.01.091. PMID: 23376710

Therapy

Fawzy M, Marcou M, Sennert M, Wirmer J, Wullich B, T Hadidi A
J Pediatr Urol 2023 Dec;19(6):698.e1-698.e8. Epub 2023 Jul 24 doi: 10.1016/j.jpurol.2023.07.015. PMID: 37524573
Andersson M, Sjöström S, Doroszkiewicz M, Örtqvist L, Abrahamsson K, Sillén U, Holmdahl G
J Pediatr Urol 2020 Oct;16(5):660.e1-660.e8. Epub 2020 Jul 15 doi: 10.1016/j.jpurol.2020.07.005. PMID: 32800709
Snodgrass W, Bush NC
J Pediatr Urol 2019 Aug;15(4):344.e1-344.e6. Epub 2019 Apr 3 doi: 10.1016/j.jpurol.2019.03.028. PMID: 31068257
Bernabé KJ, Nokoff NJ, Galan D, Felsen D, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Ellens R, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Delozier AM, Mullins LL, Palmer B, Paradis A, Reddy P, Reyes KJS, Schulte M, Swartz JM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, Poppas DP
J Pediatr Urol 2018 Apr;14(2):157.e1-157.e8. Epub 2018 Feb 2 doi: 10.1016/j.jpurol.2017.11.019. PMID: 29398588Free PMC Article
Ishiyama A, Seo S, Murakami H, Ochi T, Okawada M, Doi T, Miyano G, Koga H, Lane GJ, Haruna H, Shimizu T, Yamataka A
Pediatr Surg Int 2016 Apr;32(4):403-9. Epub 2015 Dec 9 doi: 10.1007/s00383-015-3844-3. PMID: 26649852

Prognosis

Nguyen S, Durbin-Johnson B, Kurzrock EA
J Urol 2021 Jun;205(6):1778-1784. Epub 2021 Feb 2 doi: 10.1097/JU.0000000000001569. PMID: 33525924
Andersson M, Sjöström S, Doroszkiewicz M, Örtqvist L, Abrahamsson K, Sillén U, Holmdahl G
J Pediatr Urol 2020 Oct;16(5):660.e1-660.e8. Epub 2020 Jul 15 doi: 10.1016/j.jpurol.2020.07.005. PMID: 32800709
Wolffenbuttel KP, Holmdahl G
J Pediatr Urol 2019 Dec;15(6):626.e1-626.e5. Epub 2019 Sep 10 doi: 10.1016/j.jpurol.2019.09.002. PMID: 31582336
Snodgrass W, Bush NC
J Pediatr Urol 2019 Aug;15(4):344.e1-344.e6. Epub 2019 Apr 3 doi: 10.1016/j.jpurol.2019.03.028. PMID: 31068257
Chertin B, Koulikov D, Hadas-Halpern I, Farkas A
J Urol 2005 Oct;174(4 Pt 2):1683-6. doi: 10.1097/01.ju.0000176624.11667.5d. PMID: 16148681

Clinical prediction guides

Fawzy M, Marcou M, Sennert M, Wirmer J, Wullich B, T Hadidi A
J Pediatr Urol 2023 Dec;19(6):698.e1-698.e8. Epub 2023 Jul 24 doi: 10.1016/j.jpurol.2023.07.015. PMID: 37524573
Sennert M, Perske C, Wirmer J, Fawzy M, Hadidi AT
J Pediatr Urol 2022 Jun;18(3):364.e1-364.e9. Epub 2022 Feb 16 doi: 10.1016/j.jpurol.2022.02.006. PMID: 35249835
Nguyen S, Durbin-Johnson B, Kurzrock EA
J Urol 2021 Jun;205(6):1778-1784. Epub 2021 Feb 2 doi: 10.1097/JU.0000000000001569. PMID: 33525924
Andersson M, Sjöström S, Doroszkiewicz M, Örtqvist L, Abrahamsson K, Sillén U, Holmdahl G
J Pediatr Urol 2020 Oct;16(5):660.e1-660.e8. Epub 2020 Jul 15 doi: 10.1016/j.jpurol.2020.07.005. PMID: 32800709
Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA
Horm Res 2007;68(3):150-5. Epub 2007 Jul 19 doi: 10.1159/000106375. PMID: 17641549

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