Elsevier

The Journal of Pediatrics

Volume 145, Issue 5, November 2004, Pages 670-672
The Journal of Pediatrics

Original Article
Testicular microlithiasis: An unreported feature of McCUNE-Albright syndrome in males

https://doi.org/10.1016/j.jpeds.2004.06.083Get rights and content

Objective

To ascertain the incidence of testicular microlithiasis (TM) in boys with McCune-Albright syndrome (MAS).

Study design

Study population consisted of 8 boys with MAS whose medical records were reviewed with emphasis on their past genitourinary histories. All of the boys underwent a clinical and ultrasonographic (US) scanning of the scrotal and inguinal regions. US results in boys with MAS were compared with those obtained in two control populations consisting of 20 healthy subjects and 12 boys with idiopathic and untreated central precocious puberty (CPP).

Results

Clinical examination revealed urological abnormalities in no patients, whereas US showed a typical picture of TM in 5 of 8 boys. TM was observed in none of the subjects belonging to control populations (v = 15.2 and 11.3, respectively; P < .001).

Conclusions

In a series of 8 boys with MAS we demonstrated a high prevalence (62%) of TM that was associated with neither malignant nor nonmalignant conditions. This finding is unlikely to be only occasional, considering the very low prevalence of TM reported until now in healthy children and young adults and in our results in control populations. TM may be another marker for MAS.

Section snippets

Patients

Eight boys with MAS between 5.0 and 21.0 years of age (X = 13.9 ± 5.8) were recruited for the present study from a database of the Italian Multicentric Study Group on MAS. The Italian MAS data bank was created in 19975 and consists of data on 52 patients (8 males, 44 females). All the bank's male patients were considered eligible for this study and were invited to participate.

Three boys exhibited the classic clinical triad of MAS: bone fibrous dysplasia, skin dysplasia, and peripheral precocious

Results

Clinical history revealed no history of epididymitis, spermatic cord torsion, scrotal trauma and/or orchidopexy in any boys.

Clinical examination demonstrated the absence of varicocele, hypospadias, inguinal hernia, hydrocele, cryptorchidism, testicular atrophy, or enlargement in all the patients with MAS.

No testicular tumors were identified in any boy at both clinical and US examination.

US scanning of the testes showed bilateral hyperechogenic multiple spots in 5 of 8 patients (62%) (Table) and

Discussion

MAS is a rare and sporadic clinical condition that is caused by post-zygotic mutation in Gsα protein, leading to the constitutive activation of the adenyl-acetylase system without appropriate signal stimulation polypeptide responsive receptors.6 This mechanism causes autonomous cell proliferation and/or hormonal hypersecretion, with consequent clinical manifestations.7 The clinical picture may be heterogeneous, with 30% of patients showing the classic triad (peripheral precocious puberty, bone

References (19)

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