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Unilateral cryptorchidism

MedGen UID:
98467
Concept ID:
C0431664
Congenital Abnormality
Synonyms: Cryptorchidism, Unilateral; Unilateral Cryptorchidism
 
HPO: HP:0012741

Definition

Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [from HPO]

Term Hierarchy

Conditions with this feature

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).
Microphthalmia with limb anomalies
MedGen UID:
154638
Concept ID:
C0599973
Disease or Syndrome
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome (OAS), is a rare autosomal recessive developmental disorder characterized by unilateral or bilateral microphthalmia, clinical anophthalmia, syndactyly, polydactyly, synostosis, or oligodactyly. Long-bone hypoplasia and renal, venous, and vertebral anomalies may also be present. Impaired intellectual development is present in about half of affected individuals (summary by Tekin et al., 2000, Abouzeid et al., 2011).
X-linked myotubular myopathy-abnormal genitalia syndrome
MedGen UID:
335354
Concept ID:
C1846169
Disease or Syndrome
A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.
Orofaciodigital syndrome V
MedGen UID:
358131
Concept ID:
C1868118
Disease or Syndrome
Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017).
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Silver-Russell syndrome 3
MedGen UID:
894912
Concept ID:
C4225307
Disease or Syndrome
Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860).
Spondylo-ocular syndrome
MedGen UID:
900371
Concept ID:
C4225412
Disease or Syndrome
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
MedGen UID:
895657
Concept ID:
C4225422
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
SIN3A-related intellectual disability syndrome due to a point mutation
MedGen UID:
934771
Concept ID:
C4310804
Disease or Syndrome
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).
Intellectual disability, autosomal dominant 51
MedGen UID:
1625009
Concept ID:
C4540474
Mental or Behavioral Dysfunction
Cardiac-urogenital syndrome
MedGen UID:
1648333
Concept ID:
C4748946
Disease or Syndrome
Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018).
Macrocephaly, acquired, with impaired intellectual development
MedGen UID:
1648471
Concept ID:
C4748993
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MedGen UID:
1710110
Concept ID:
C5394312
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020).

Professional guidelines

PubMed

Wei Y, Wang Y, Tang X, Liu B, Shen L, Long C, Lin T, He D, Wu S, Wei G
J Paediatr Child Health 2018 Aug;54(8):900-906. Epub 2018 Apr 14 doi: 10.1111/jpc.13920. PMID: 29655188
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668
Chilvers C, Dudley NE, Gough MH, Jackson MB, Pike MC
J Pediatr Surg 1986 Aug;21(8):691-6. doi: 10.1016/s0022-3468(86)80389-x. PMID: 2875145

Recent clinical studies

Etiology

Fan L, Shi L, Liu S, Zhang Z, Shi J
Front Endocrinol (Lausanne) 2024;15:1294884. Epub 2024 Feb 1 doi: 10.3389/fendo.2024.1294884. PMID: 38362278Free PMC Article
Rodprasert W, Koskenniemi JJ, Virtanen HE, Sadov S, Perheentupa A, Ollila H, Albrethsen J, Andersson AM, Juul A, Skakkebaek NE, Main KM, Toppari J
J Clin Endocrinol Metab 2022 Nov 25;107(12):3353-3361. doi: 10.1210/clinem/dgac520. PMID: 36073163Free PMC Article
Komarowska MD, Grubczak K, Czerniecki J, Hermanowicz A, Hermanowicz JM, Debek W, Matuszczak E
Front Endocrinol (Lausanne) 2021;12:694669. Epub 2021 Jul 14 doi: 10.3389/fendo.2021.694669. PMID: 34335471Free PMC Article
Verkauskas G, Malcius D, Dasevicius D, Hadziselimovic F
Pediatr Dev Pathol 2019 Jan-Feb;22(1):53-58. Epub 2018 Jul 16 doi: 10.1177/1093526618789300. PMID: 30012073
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668

Diagnosis

Mansy M, Kotb M, Abdelmeguid Y, Raafat S, Abdelaziz M
BMC Pediatr 2020 Nov 28;20(1):536. doi: 10.1186/s12887-020-02424-y. PMID: 33248450Free PMC Article
Komarowska M, Szymańska B, Ołdak Ł, Sankiewicz A, Matuszczak E, Gorodkiewicz E, Debek W, Milewski R, Hermanowicz A
Adv Med Sci 2020 Mar;65(1):176-181. Epub 2020 Jan 21 doi: 10.1016/j.advms.2019.10.004. PMID: 31978696
Wei Y, Wang Y, Tang X, Liu B, Shen L, Long C, Lin T, He D, Wu S, Wei G
J Paediatr Child Health 2018 Aug;54(8):900-906. Epub 2018 Apr 14 doi: 10.1111/jpc.13920. PMID: 29655188
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668
Hezmall HP, Lipshultz LI
Urol Clin North Am 1982 Oct;9(3):361-9. PMID: 6128819

Therapy

Wei Y, Wang Y, Tang X, Liu B, Shen L, Long C, Lin T, He D, Wu S, Wei G
J Paediatr Child Health 2018 Aug;54(8):900-906. Epub 2018 Apr 14 doi: 10.1111/jpc.13920. PMID: 29655188
Bu Q, Pan Z, Jiang S, Wang A, Cheng H
Horm Metab Res 2016 May;48(5):318-24. Epub 2016 Apr 6 doi: 10.1055/s-0042-104059. PMID: 27050251
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668
Sampaio FJ
Int Braz J Urol 2008 May-Jun;34(3):257-8. doi: 10.1590/s1677-55382008000300023. PMID: 18601754
Ku JH, Kim ME, Lee NK, Park YH
Urol Res 2003 Oct;31(5):312-6. Epub 2003 Jul 25 doi: 10.1007/s00240-003-0341-2. PMID: 14574535

Prognosis

Cinislioglu AE, Ozkaya F, Altay MS, Aksoy Y
J Pediatr Urol 2020 Dec;16(6):819.e1-819.e8. Epub 2020 Sep 11 doi: 10.1016/j.jpurol.2020.09.002. PMID: 33082100
Komarowska M, Szymańska B, Ołdak Ł, Sankiewicz A, Matuszczak E, Gorodkiewicz E, Debek W, Milewski R, Hermanowicz A
Adv Med Sci 2020 Mar;65(1):176-181. Epub 2020 Jan 21 doi: 10.1016/j.advms.2019.10.004. PMID: 31978696
Barbotin AL, Dauvergne A, Dumont A, Ramdane N, Mitchell V, Rigot JM, Boitrelle F, Robin G
Asian J Androl 2019 Sep-Oct;21(5):445-451. doi: 10.4103/aja.aja_2_19. PMID: 30880688Free PMC Article
Esposito S, Cofini M, Rigante D, Leonardi A, Lucchetti L, Cipolla C, Lanciotti L, Penta L
Ital J Pediatr 2018 Jul 16;44(1):81. doi: 10.1186/s13052-018-0523-8. PMID: 30012176Free PMC Article
Wei Y, Wang Y, Tang X, Liu B, Shen L, Long C, Lin T, He D, Wu S, Wei G
J Paediatr Child Health 2018 Aug;54(8):900-906. Epub 2018 Apr 14 doi: 10.1111/jpc.13920. PMID: 29655188

Clinical prediction guides

Long S, Zhang R, Yang Q, Wang Y, Song Y, Zhou B, Zhang L
Pediatr Surg Int 2022 Sep;38(9):1311-1316. Epub 2022 Jul 15 doi: 10.1007/s00383-022-05167-2. PMID: 35838787
Sinopidis X, Kostopoulou E, Rojas-Gil AP, Panagidis A, Kourea E, Skiadopoulos S, Georgiou G, Spiliotis BE
J Pediatr Endocrinol Metab 2021 Oct 26;34(10):1247-1255. Epub 2021 Jul 16 doi: 10.1515/jpem-2021-0240. PMID: 34265880
Cinislioglu AE, Ozkaya F, Altay MS, Aksoy Y
J Pediatr Urol 2020 Dec;16(6):819.e1-819.e8. Epub 2020 Sep 11 doi: 10.1016/j.jpurol.2020.09.002. PMID: 33082100
Verkauskas G, Malcius D, Dasevicius D, Hadziselimovic F
Pediatr Dev Pathol 2019 Jan-Feb;22(1):53-58. Epub 2018 Jul 16 doi: 10.1177/1093526618789300. PMID: 30012073
Esposito S, Cofini M, Rigante D, Leonardi A, Lucchetti L, Cipolla C, Lanciotti L, Penta L
Ital J Pediatr 2018 Jul 16;44(1):81. doi: 10.1186/s13052-018-0523-8. PMID: 30012176Free PMC Article

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