Macroorchidism: Causes & Reasons

Possible Causes for Macroorchidism

619689 Megalencephaly Macroorchidism, Long penis ORPHA:2477 17Q11.2 Microduplication Syndrome Macroorchidism ORPHA:139474 46,Xy Sex Reversal 10 Sex reversal, Micropenis, [mousephenotype.org]

X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome Macroorchidism ORPHA:85320 Intellectual Developmental Disorder, X-Linked 14 Macroorchidism OMIM:300062 [mousephenotype.org]

Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. [malacards.org]

Melhem-Fahl Syndrome

[…] retardation n-Mental retardation s Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism [statemaster.com]

[…] obesity genital hypoplasia Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism [en.wikipedia.org]

Fragile X Syndrome

macroorchidism should be aware of this occurrence. [ncbi.nlm.nih.gov]

Macroorchidism is common in adolescents and adults, but testes size may be normal in prepubertal boys. Macrocephaly is common. [clinicaladvisor.com]

Physical features of FXS include an elongated face, prominent ears, and post-pubertal macroorchidism. [doi.org]

McCune-Albright Syndrome

Reports of MAS in a boy with unilateral macroorchidism are scarce. [ncbi.nlm.nih.gov]

Limprasert P, Jaruratanasikul S, Vasiknanonte P: Unilateral macroorchidism in fragile X syndrome. Am J Med Genet 2000; 95:516–517. [karger.com]

CONCLUSIONS: (a) MAS should be taken into consideration in the clinicopathological approach to a boy with monolateral macroorchidism; (b) testicular enlargement may be only [ncbi.nlm.nih.gov]

Malignant Hyperthermia - Arthrogryposis - Torticollis

[…] retardation n – Mental retardation s Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism [en.wikipedia.org]

Mental retardation psychosis macroorchidism[?] Mental retardation short broad thumbs[?] Mental retardation short stature absent phalanges[?] [encyclopedia.kids.net.au]

Mononen-Karnes-Senac Syndrome

Severe Neonatal-Onset Encephalopathy with Microcephaly

Disease Type of connection Atypical Rett syndrome Intellectual deficit, X-linked - psychosis - macroorchidism Rett syndrome Trisomy Xq28 X-linked non-syndromic intellectual [csbg.cnb.csic.es]

Retardation, X-Linked 78 Mrx MRX1 MRX18|MRX78 309530 Genetic Test Registry Mental Retardation, X-Linked, Syndromic 13 Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism [ukgtn.nhs.uk]

[…] intellectual disability syndrome, which can be diagnosed by molecular testing of the ATRX gene. 5 MECP2 -associated intellectual disability, autism and parkinsonian features, and macroorchidism [iamg.in]

Myelocerebellar Disorder

[…] n-Mental retardation s * Mental retardation nasal papillomata * Mental retardation osteosclerosis * Mental retardation progressive spasticity * Mental retardation psychosis macroorchidism [en.academic.ru]

Aarskog-Scott Syndrome

Genital anomalies may include cryptorchidism, macroorchidism, shawl scrotum and, more rarely, hypospadias. Fertility is normal. [orpha.net]

Renpenning Syndrome

Escalante Syndrome: Similar to Renpenning syndrome; associated with macroorchidism. [accessanesthesiology.mhmedical.com]

AND MACROORCHIDISM EnglishMedical Subject Headings D005600 L6471085no S12646878 Y X Linked Mental Retardation and Macroorchidism EnglishMEDCIN 38282 L6996485no S8296965 Y [wap.doctor.am]

[…] muscular dystrophy Pseudohypertrophic muscular dystrophy DMD, Xp21.3 Fragile X syndrome Prominent forehead, long face, recessed midface, large ears, prominent mandible, macroorchidism [pediatrics.aappublications.org]

X-Linked Syndromic Mental Retardation Type 13

REFERENCIAS BIBLIOGRÁFICAS 1. Real Academia Española. Inteligencia. Madrid: Real Academia Española; 2019. (Citado el 30 de marzo de 2020) Disponible en: http://lema.rae.es/drae2001/srv/search?id=2qlbggjrBDXX2HVuWUL7 [ Links ] 2. Sternberg RJ. Intelligence. Dialogues Clin Neurosci. 2012;14(1):19-27. [ Links ] 3. Plomin R, von[…] [scielo.org.pe]

X-Linked Mental Retardation Type 88

[…] family originally described in 1943 as being non-syndromic was restudied in 1981 by Richards et al.(70), who noted that the affected males showed prognathism, large ears and macroorchidism [latunisiemedicale.com]

X-Linked Mental Retardation Type 102

X-Linked Syndromic Intellectual Disability Type Schimke

Disease Ontology Browser X-linked intellectual disability-psychosis-macroorchidism syndrome ( DOID:0060827 ) Alliance: disease page Synonyms: Lindsay-Burn syndrome; mental [informatics.jax.org]

[…] intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability, Kroes type X-linked intellectual disability-macrocephaly-macroorchidism [familydiagnosis.com]

Infections ; XLID-Ichthyosis-Hypogonadism ; XLID-Infantile Spasms (see also ARX-Associated XLID) ; XLID-Isolated Growth Hormone Deficiency ; XLID-Macrocephaly ; XLID-Macrocephaly-Macroorchidism [amazon.de]

X-Linked Syndromic Intellectual Disability Type Abidi

Creatine is essential for maintaining ATP levels in cells with a high energy demand. [21] References ↑ "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism [infogalactic.com]

Creatine is essential for maintaining ATP levels in cells with a high energy demand. [20] References Edit ↑ Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism [psychology.wikia.com]

X-Linked Mental Retardation Type 61

X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, et al. (1996) Severe mental retardation and macroorchidism without mutation in the FMR1 gene. [studyres.com]

[…] cells with a high energy demand. [23] GSPT2 [24] MAGED1 [25] See also [ edit ] Xp11.2 Duplication References [ edit ] ^ "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism [en.wikipedia.org]

Hypospadias - Intellectual Disability Syndrome Type Goldblatt

Lindsay S, Splitt M, Edney S, et al.: PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. [vdoc.pub]

Elongated face, prominent mandible, macroorchidism, clumsiness, repetitive movements XLMR-Psoriasis Hypertelorism, open mouth, large ears, hypotonia, seizures, psoriasis [vdoc.pub]

X-Linked Mental Retardation Type 108

X-Linked Mental Retardation

FRAXF Syndrome

Genet. (1994) [Pubmed] PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. [wikigenes.org]

[…] characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin, inconsistent mitral valve prolapse, macroorchidism [typeset.io]

Trisomy 20p

A 9-year-old prepuberal boy with trisomy 20p syndrome and previously undescribed macroorchidism is presented. [ncbi.nlm.nih.gov]

"De novo" trisomy 20p with macroorchidism in a prepubertal boy. Ann Genet 27: 58-59, 1984 (15) de Grouchy J, Turleau C: clinical atlas of human chromosomes, 2nd ed. [syndromefinder.ncchd.go.jp]

If prepuberal macroorchidism is confirmed in further patients, trisomy 20p could be taken into account in the differential diagnosis with the sex-linked syndromes with mental [ncbi.nlm.nih.gov]

X-Linked Mental Retardation Type 96

[…] face may become long and narrow The ears may become prominent The joints may be somewhat lax The arch of the feet may tend to be flat The testicles may become quite large (macroorchidism [ibis-birthdefects.org]

The syndrome typically presents in males with moderate mental retardation, characteristic, but subtle, facial features of a prominent jaw and large ears, and macroorchidism [ommbid.mhmedical.com]

Males with fragile X syndrome often have abnormal facies, including a long face, large ears, prominent jaw and macroorchidism (abnormally large testes). [hihg.med.miami.edu]

Clark-Baraitser Syndrome

Macroorchidism that had been noted at age 10 disappeared after puberty. [findzebra.com]

Association between macroorchidism and intelligence in FMR1 premutation carriers. Lozano R, Summers S, Lozano C, Mu Y, Hessl D, Nguyen D, Tassone F, Hagerman R. [pubmed.ncbi.nlm.nih.gov]

[…] constipation ND Constipation Slight feeding problem Constipation Severe feeding problem Small genitalia/endocrine anomalies - ND ND ND ND + ND ND 3/52 abnormal genitalia ND 1 has macroorchidism [ncbi.nlm.nih.gov]

X-Linked Syndromic Mental Retardation Type 11

Lindsay S et al. (1996) PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. [^] 14. [moldiag.com]

[…] opening between the eyelids 0000581 Bulbous nose 0000414 Coarse facial features Coarse facial appearance 0000280 Intellectual disability, moderate IQ between 34 and 49 0002342 Macroorchidism [rarediseases.info.nih.gov]

X-Linked Syndromic Mental Retardation Type Snyder-Robinson

Lindsay Burn Syndrome” In our body, the dis-order, Lindsay Burn syndrome is an allopathic name of a X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism [wellnessadvocate.com]

(DO) Tranebjaerg Svejgaard syndrome Wittwer Syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked mental retardation 106 X-Linked Mental Retardation [rgd.mcw.edu]

Infections XLID-Ichthyosis-Hypogonadism XLID-Infantile Spasms (see also ARX-Associated XLID) XLID-Isolated Growth Hormone Deficiency XLID-Macrocephaly XLID-Macrocephaly-Macroorchidism [oupjapan.co.jp]

Chromosome 20q Duplication

“De Novo” trisomy 20p with macroorchidism in a prepuberal boy. Ann Genet 1984;27:58-9.13. [Figure 1], [Figure 2] [Table 1] [ipcares.org]

Balestrazzi et al. suggested that if prepubertal macroorchidism is identified in the presence of intellectual disability, trisomy 20p should be considered as a differential [ipcares.org]

FRAXE-Related Mental Retardation

— X Linked Mental Retardation and Macroorchidism — Fragile X Mental Retardation Syndrome — Martin-Bell Syndrome — Martin Bell Syndrome — Syndrome, Martin-Bell — Fra(X) Syndrome [mesh.kib.ki.se]

Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the renpenning but not martin-bell syndrome. [icd10data.com]

Aï¬ected men have a classic phenotype characterized by long face, large and protruding ears and macroorchidism 2. [redalyc.org]

X-Linked Mental Retardation - Spastic Paraplegia Syndrome

Cases 423479 X-linked intellectual disability- limb spasticity-retinal dystrophy-diabetes insipidus syndrome 2 Cases 85320 X-linked intellectual disability- macrocephaly-macroorchidism [azkurs.org]

Retardation - Osteosclerosis Mental Retardation - Polydactyly - Uncombable Hair Mental Retardation - Progressive Spasticity, X - Linked Mental Retardation - Psychosis - Macroorchidism [healthgrades.com]

Familial Testotoxicosis

Moreover, macroorchidism was only monolateral, as against as that generally reported in MAS boys. [hormones.gr]

Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Macroorchidism [rarediseases.info.nih.gov]

Khanna G, Kantawala K, Shinawi M, Sarwate S, Dehner LP, 2010 McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses. [hormones.gr]