Original ArticleTesticular microlithiasis: An unreported feature of McCUNE-Albright syndrome in males
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
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Cited by (45)
Peripheral precocious puberty including congenital adrenal hyperplasia: causes, consequences, management and outcomes
2019, Best Practice and Research: Clinical Endocrinology and MetabolismCitation Excerpt :Surgical intervention should be reserved for palpable, rapidly growing or locally invasive lesions due to risk for malignant degeneration of some lesions [28]. While microlithiasis is a common finding in boys with MAS, it is unclear if it leads to increased neoplastic transformation [30]. In girls with clinical features suggestive of MAS, an elevated serum estradiol level and suppressed gonadotropins confirm the diagnosis of PPP.
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2012, Pediatric BoneFibrous Dysplasia
2011, Pediatric Bone: Biology and DiseasesPuberty: Ontogeny, Neuroendocrinology, Physiology, and Disorders
2011, Williams Textbook of Endocrinology, Twelfth Edition
On behalf of Italian Study Group for Alterations of Gs alpha protein function