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Retractile testis

MedGen UID:
636075
Concept ID:
C0520578
Congenital Abnormality
Synonym: Retractile testicle
SNOMED CT: Testicular retraction (21779006); Pseudocryptorchism (21779006); Retractible testis (21779006); Retractile testis (21779006)
 
HPO: HP:0012646

Definition

A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. [from HPO]

Conditions with this feature

Microcephalic primordial dwarfism, Alazami type
MedGen UID:
767353
Concept ID:
C3554439
Disease or Syndrome
Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Some patients have been reported with skeletal and behavioral features (summary by Imbert-Bouteille et al., 2019).
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
MedGen UID:
934638
Concept ID:
C4310671
Disease or Syndrome
PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).
46,XX sex reversal 4
MedGen UID:
1373282
Concept ID:
C4479552
Congenital Abnormality
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.

Professional guidelines

PubMed

Huen K, Richardson S
Adv Pediatr 2024 Aug;71(1):169-179. Epub 2024 Jan 6 doi: 10.1016/j.yapd.2023.12.001. PMID: 38944481
Marchetti F, Bua J, Tornese G, Piras G, Toffol G, Ronfani L; Italian Study Group on Undescended Testes
BMC Pediatr 2012 Jan 10;12:4. doi: 10.1186/1471-2431-12-4. PMID: 22233418Free PMC Article
Khatwa UA, Menon PS
Indian J Pediatr 2000 Jun;67(6):449-54. doi: 10.1007/BF02859466. PMID: 10932966

Recent clinical studies

Etiology

Tanaka K, Nakazawa-Tanaka N, Fujimoto T, Urao M, Lane GJ, Yamataka A
Pediatr Surg Int 2022 Dec 5;39(1):35. doi: 10.1007/s00383-022-05331-8. PMID: 36469123
Jiang DD, Acevedo AM, Bayne A, Austin JC, Seideman CA
J Pediatr Urol 2019 Aug;15(4):380.e1-380.e6. Epub 2019 Apr 4 doi: 10.1016/j.jpurol.2019.03.029. PMID: 31072764
Wayne C, Guerra LA, Yao J, Keays MA, Leonard MP
Fam Pract 2018 Jul 23;35(4):452-454. doi: 10.1093/fampra/cmx128. PMID: 29236968
Goede J, van der Voort-Doedens LM, Sijstermans K, Hack WW
J Urol 2011 Nov;186(5):2050-4. Epub 2011 Sep 25 doi: 10.1016/j.juro.2011.07.020. PMID: 21944090
Wyllie GG
Med J Aust 1984 Mar 31;140(7):403-5. doi: 10.5694/j.1326-5377.1984.tb108099.x. PMID: 6142410

Diagnosis

Tanaka K, Nakazawa-Tanaka N, Fujimoto T, Urao M, Lane GJ, Yamataka A
Pediatr Surg Int 2022 Dec 5;39(1):35. doi: 10.1007/s00383-022-05331-8. PMID: 36469123
Jiang DD, Acevedo AM, Bayne A, Austin JC, Seideman CA
J Pediatr Urol 2019 Aug;15(4):380.e1-380.e6. Epub 2019 Apr 4 doi: 10.1016/j.jpurol.2019.03.029. PMID: 31072764
Wayne C, Guerra LA, Yao J, Keays MA, Leonard MP
Fam Pract 2018 Jul 23;35(4):452-454. doi: 10.1093/fampra/cmx128. PMID: 29236968
Goede J, van der Voort-Doedens LM, Sijstermans K, Hack WW
J Urol 2011 Nov;186(5):2050-4. Epub 2011 Sep 25 doi: 10.1016/j.juro.2011.07.020. PMID: 21944090
Khatwa UA, Menon PS
Indian J Pediatr 2000 Jun;67(6):449-54. doi: 10.1007/BF02859466. PMID: 10932966

Therapy

Adekanye AO, Adefemi SA, Onawola KA, James JA, Adeleke IT, Francis M, Sheshi EU, Atakere ME, Jibril AD
Afr Health Sci 2017 Dec;17(4):1120-1125. doi: 10.4314/ahs.v17i4.20. PMID: 29937883Free PMC Article
Cancian M, Ellsworth P, Caldamone A
J Pediatr Urol 2017 Oct;13(5):504.e1-504.e5. Epub 2017 Mar 28 doi: 10.1016/j.jpurol.2017.03.011. PMID: 28434636
Khatwa UA, Menon PS
Indian J Pediatr 2000 Jun;67(6):449-54. doi: 10.1007/BF02859466. PMID: 10932966
Hoorweg-Nijman JJ, Havers HM, Delemarre-van de Waal HA
Eur J Endocrinol 1994 Jan;130(1):60-4. doi: 10.1530/eje.0.1300060. PMID: 7907261
Lipshultz LI
Fertil Steril 1976 Jun;27(6):609-20. doi: 10.1016/s0015-0282(16)41889-3. PMID: 6340

Prognosis

Tanaka K, Nakazawa-Tanaka N, Fujimoto T, Urao M, Lane GJ, Yamataka A
Pediatr Surg Int 2022 Dec 5;39(1):35. doi: 10.1007/s00383-022-05331-8. PMID: 36469123
Jiang DD, Acevedo AM, Bayne A, Austin JC, Seideman CA
J Pediatr Urol 2019 Aug;15(4):380.e1-380.e6. Epub 2019 Apr 4 doi: 10.1016/j.jpurol.2019.03.029. PMID: 31072764
Wayne C, Guerra LA, Yao J, Keays MA, Leonard MP
Fam Pract 2018 Jul 23;35(4):452-454. doi: 10.1093/fampra/cmx128. PMID: 29236968
Yoshida T, Ohno K, Morotomi Y, Nakamura T, Azuma T, Yamada H, Hayashi H, Suehiro S
Osaka City Med J 2009 Dec;55(2):81-7. PMID: 20088407
Wyllie GG
Med J Aust 1984 Mar 31;140(7):403-5. doi: 10.5694/j.1326-5377.1984.tb108099.x. PMID: 6142410

Clinical prediction guides

Hori S, Aoki K, Nishimura N, Morizawa Y, Gotoh D, Fukui S, Nakai Y, Miyake M, Torimoto K, Yoneda T, Tanaka N, Fujimoto K
Int J Urol 2021 Mar;28(3):327-332. Epub 2020 Dec 10 doi: 10.1111/iju.14458. PMID: 33302323
Jiang DD, Acevedo AM, Bayne A, Austin JC, Seideman CA
J Pediatr Urol 2019 Aug;15(4):380.e1-380.e6. Epub 2019 Apr 4 doi: 10.1016/j.jpurol.2019.03.029. PMID: 31072764
Wayne C, Guerra LA, Yao J, Keays MA, Leonard MP
Fam Pract 2018 Jul 23;35(4):452-454. doi: 10.1093/fampra/cmx128. PMID: 29236968
Cancian M, Ellsworth P, Caldamone A
J Pediatr Urol 2017 Oct;13(5):504.e1-504.e5. Epub 2017 Mar 28 doi: 10.1016/j.jpurol.2017.03.011. PMID: 28434636
Anderson KM, Costa SF, Sampaio FJ, Favorito LA
Int Braz J Urol 2016 Jul-Aug;42(4):803-9. doi: 10.1590/S1677-5538.IBJU.2015.0538. PMID: 27564294Free PMC Article

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