High resolution ultrasound of macro‐orchidism in mental retardation

Hutton, Laura; Rankin, Richard N.; Pozsonyi, J

doi:10.1002/jcu.1870130105

Cited by 10 publications

(6 citation statements)

References 19 publications

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“…Most authors consider a testicular volume below 15 ml as subnormal, whereas 25 ml is often regarded as representing the upper limit of the normal range (Prader, 1966;Hutton et al, 1985;Baker, 1989). Using 25 ml as the cutoff point we identified 135 patients with bilateral megalotestes.…”

Section: Discussionmentioning

confidence: 99%

Endocrine and spermatological characteristics of 135 patients with bilateral megalotestis

Meschede¹,

Behre²,

Nieschlag³

2009

Andrologia

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Little is known about the biological and clinical significance of bilaterally enlarged testes (bilateral megalotestes or macroorchidism). We have investigated clinical, endocrine and spermatological characteristics of 135 andrological patients with a testicular volume of more than 25 ml bilaterally. 135 patients with normal testicular volumes served as controls. Subjects with bilateral megalotestis had higher sperm counts and better sperm morphology and motility than the controls. Levels of LH, FSH, prolactin, testosterone and estradiol were lower in the megalotestis group. This was statistically significant for LH and FSH. No testicular tumours were diagnosed in either group. We conclude that in most andrological patients with bilateral megalotestes fertility parameters are excellent despite the unusually low hormone levels found in a significant minority. No specific pathology underlying the large gonadal volume could be identified.

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Section: Discussionmentioning

confidence: 99%

Endocrine and spermatological characteristics of 135 patients with bilateral megalotestis

Meschede¹,

Behre²,

Nieschlag³

2009

Andrologia

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“…High resolution ultrasonography of the testis, apart from large size, does not reveal any abnormalities or distinguishing features. 16 Increased expression of the FMR1 gene in the testes has been demonstrated; however, the exact cause of macroorchidism in FraX is still debatable. 17 Because the testis is composed of predominately Sertoli cells, germ cells, and interstitium, proliferation of either of these cell types or interstitial edema could be responsible for the increase in testicular size.…”

Section: Discussionmentioning

confidence: 99%

Testicular Torsion in an Adolescent With Fragile X Syndrome

et al. 2002

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ABSTRACT. Fragile X syndrome (FraX) is the most common hereditary form of mental retardation. The clinical syndrome includes mental retardation, macroorchidism, and typical but variable facial features. Although macroorchidism has been recognized as a cardinal feature of FraX, descriptions of testicular pathology are rare. Testicular torsion is a relatively common surgical emergency in young men, peaking at the onset of puberty when the testes undergo a period of rapid growth. However, testicular torsion has never been associated with macroorchidism. We report the first known case of testicular torsion in a 14-year-old boy with FraX and macroorchidism. Although we are unable to establish a definitive relationship between macroorchidism and testicular torsion in an isolated case report, primary care takers of children with macroorchidism should be aware of this occurrence. We recommend measurement of testicular volume during annual evaluations of children and adolescents with macroorchidism. Acute scrotal pain or increased testicular volume should be promptly evaluated. ragile X syndrome (FraX) affects 1 in 1250 to 1 in 4000 individuals, making it the most common cause of inherited mental retardation. Although macroorchidism has been recognized as a cardinal characteristic of men with FraX for over 25 years, descriptions of associated symptoms or testicular pathology are rare. 1,2 A relatively common surgical emergency in young males, testicular torsion occurs most commonly at puberty with a calculated annual incidence of 1 in 4000 males under 25 years of age. 3,4 However, a literature search failed to locate any previous reports of testicular torsion in association with FraX and macroorchidism. We describe a case of testicular torsion in a 14-year-old pubertal boy with FraX and macroorchidism who presented with 48 hours of mild left groin and testicular pain with asymmetrical testicular enlargement. Physical examination and color Doppler ultrasound findings were consistent with testicular torsion. Scrotal exploration and manual detorsion were performed; however, the testis was nonviable and therefore removed. CASE REPORTA 14-year-old male with a history of fragile X mosaicism with moderate mental retardation (Wechsler Intelligence Scale for Children-III Full Scale IQ 48) and bilateral macroorchidism presented with 48 hours of mild, vague left groin and testicular pain unrelated to exertion. The pain had awoken him the night before evaluation. He denied masturbation, sexual activity, voiding abnormalities, gastrointestinal symptoms, and genitourinary and abdominal trauma. His medical history was unremarkable for previous testicular pain, immunosupression, malignancy, diabetes mellitus, urinary tract infection, or manipulation. FraX had been diagnosed in the patient and his younger brother 7 years earlier based on the brother's more classic symptoms of developmental delay, autistic features, and typical facial appearance. Our patient had no significant behavioral problems. The majority of the DNA molecules isolat...

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“…I1 est donc probable que la raretE des observations de macroorchidisme chez le tr~s jeune enfant est liEe ?a l'absence de mesure systEmatique. Le parenchyme testiculaire ne prEsente aucune anomalie Echographique [9]. Le macroorchidisme n'est pas li6 ~ un trouble hormonal hypothalamo-hypophyso-gonadique [20].…”

Section: Discussionunclassified

“…Dans les 6pithdliums, l'expression de la FMRP est effectivement plus 61ev6e dans les couches en division [10]. L'expression du g~ne FMR1 semblerait plus marqu6e dans la p6riode foetale et infantile, assez ubiquitaire avec une transcription plus importante darts le cerveau, le cervelet et le testicule [9,14]. En fait, deux prot6ines homologues ~t la FMRP ont 6t6 d6crites: FXR1 et FXR2.…”

Section: Discussionunclassified

Macroorchidism and spermatogenesis in fragile X syndrome

Pagès

Gentil-Perret

Lévy

et al. 2001

Androl.

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RI~SUMI~Le syndrome de I'X fragile est lid a I'expansion d'une sequence rdp6titive de triplets CGG dans la rdgion 5' du gene FMR1. I! en resulte I'absence de production de la protdine FMRP par blocage de la transcription du g~ne FMRt. Nous rapportons une dtude hormonale, histologique et immunohistochimique d'un cas, centrde sur les functions testiculaires et I'origine du macroorchidisme.Le syndrome de I'X fragile s'accompagne d'une spermatogenese normale ou incomplete ou encore prdsentant des lesions aux stades tardifs. Ces Idsions tardives associ(~es b I'o~d~me interstitiel s'apparentent aux Idsions observ(~es chez les vasectomis(~s ce qui a f a r soulever I'hypoth&se du r61e d'une hyperpression pdritubulaire et/ou d'anticorps anti-spermatozo'ides. Dans notre observation, l a ndgativit(~ des anticorps anti-spermatozo'ides et la discrdtion de I'ced~me ne sont pas en faveur de cette hypoth~se. L'histologie retrouve I'existence d'une hyperplasie du tissu interstitiel, d'un dpaississement de la membrane basale pdritubulaire et d'une augmentation du diam~tre externe des tubes sdminif6res sans anomalie morphologique des cellules de Leydig ou des cellules de Sertoli.Les immunomarquages rdalisds montrent la prdsence de la prot(Hne FMRp dans les cellules germinales ce qui indique que ces cellules ne sont pas porteuse de la mutation compl&te. Cette expression de la protdine FMRp dans le testicule peut permettre d'expliquer la conservation de la spermatogen~se alors m6me qu'il a dt~ sugg(~rd que la prot(Hne FMRp spit n(~cessaire la survie des cellules germinales. Nos rdsultats sont compatible avec I'hypoth&se que les atteintes diff~rentes de la spermatogen~se selon les patients atteints du syndrome puissent 6tre li(~es au nombre de cellules germinales touch~es par la mutation complete. Des travaux compl(~mentaires sont toutefois n~cessaires pour comprendre la variabilitd des atteintes de la spermatogen~se et la physiopathologie du macroorchidisme dans le syndrome de I'X fragile.

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High resolution ultrasound of macro‐orchidism in mental retardation

Cited by 10 publications

References 19 publications

Endocrine and spermatological characteristics of 135 patients with bilateral megalotestis

Endocrine and spermatological characteristics of 135 patients with bilateral megalotestis

Testicular Torsion in an Adolescent With Fragile X Syndrome

Macroorchidism and spermatogenesis in fragile X syndrome

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