McCune-Albright Syndrome in a Boy May Present with a Monolateral Macroorchidism as an Early and Isolated Clinical Manifestation

Abstract

Background: Testis enlargement in McCune-Albright syndrome (MAS) is generally bilateral and associated with clinical and biochemical manifestations of sexual precocity. Case Report: We describe for the first time an unreported clinical expression of MAS in a 4.6-year-old boy presenting with monolateral testis enlargement and no signs of sexual precocity or other clinical manifestations of MAS at the time of presenting with macroorchidism. Both testosterone and LHRH-stimulated gonadotropin levels were in the prepubertal range. Serum inhibin B was increased to a pubertal level indicating Sertoli cell activation. The histological and immunocytochemical evaluation of the enlarged testis revealed Sertoli cell hyperplasia with no mature Leydig cells. Mutation R201C of GNAS1 gene, classically responsible for MAS, was identified in DNA samples from the right testis biopsy and leukocytes. Conclusions: (a) MAS should be taken into consideration in the clinicopathological approach to a boy with monolateral macroorchidism; (b) testicular enlargement may be only the presenting clinical manifestation of MAS and is not necessarily linked to manifestations of peripheral precocious puberty; (c) testicular autonomous hyperfunction in MAS may be restricted to Sertoli cells, as also demonstrated previously by others.

Regulation of spermatogenesis in McCune–Albright syndrome: lessons from a 15-year follow-up.

“…There is only another report that demonstrates some similarities with our case (17). Also in that patient testicular enlargement was unilateral and occurred very early.…”

Characterization and Management of Testicular Pathology in McCune-Albright Syndrome

“…Testicular pathology has been observed in the absence of PP, including macro-orchidism and microlithiasis (16). Single-patient reports describe testicular biopsy findings, both in boys with PP (15, 19 -22) and macro-orchidism alone (23)(24)(25)(26). All report Sertoli cell hyperplasia (SCH) and a paucity of Leydig cells with one exception (21), where occasional mature Leydig cells were seen in a boy with PP and SCH.…”

McCune-Albright Syndrome Mimicking Malignancy: an Endocrine Disease From Oncologist’s Perspective

“…In a study from Macedonia, a 3-year-old girl with a mass at the left ovary had surgery and the pathology of the salpingo-oophorectomy revealed a benign ovarian cyst (5). In Khanna et al’s (7) and Arrigo et al’s (20) studies, two boys presenting with unilateral macroorchidism underwent testicular biopsy in order to exclude malignancy. Ovarian cysts that can be encountered in MAS cases may also require invasive measures like laparotomy (12,21) (Table 1).…”