Macro-Orchidism: A Clinicopathological Approach

Nistal, Manuel; Martínez-García, Francisco; Regadera, Javier; Cobo, Paz; Paniagua, Ricardo

doi:10.1016/s0022-5347(17)35203-5

Cited by 11 publications

(8 citation statements)

References 60 publications

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“…In our case, clinical diagnosis of testicular tumor was very unlikely, since testis enlargement did not present as nodular, irregular and heterogeneous [18]. Moreover, β-HCG research was negative and testicular US was normal.…”

Section: Discussionmentioning

confidence: 85%

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

Arrigo

Pirazzoli²,

Sanctis³

et al. 2006

Horm Res Paediatr

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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.

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Section: Discussionmentioning

confidence: 85%

“…Unilateral testicular enlargement is usually caused by a testis tumor [18]. More rarely, compensatory hypertrophy of the controlateral testis has been reported in unilateral cryptorchidism [19], as well as in otherwise normal prepubertal boys [20].…”

Section: Discussionmentioning

confidence: 99%

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

Arrigo

Pirazzoli²,

Sanctis³

et al. 2006

Horm Res Paediatr

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“…The other differential diagnosis entertained were testicular tumor and Familial male-limited precocious precocity (FMPP). Testicular tumor was unlikely, since testicular enlargement was not nodular, irregular or heterogeneous [4]. Further, tumor markers and USG helped to exclude a tumour.…”

Section: Discussionmentioning

confidence: 99%

Macroorchidism in an Indian Boy with McCune-Albright Syndrome

Rustagi

Khadilkar

et al. 2011

Indian J Pediatr

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McCune-Albright syndrome (MAS) is defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait spots and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. The authors report a case of MAS in an Indian boy who had history of unilateral macroorchidism (but no other signs of MAS) since birth, then presented with PP, FD and café-au-lait spots at 6 years of age. On examination he had asymmetry of the face, café-au-lait spots and signs of sexual precocity with a right testicular volume of 25 ml (left 8 ml). Investigations revealed suppressed gonadotropins with elevated testosterone levels. Skeletal survey showed dysplastic changes involving multiple bones and advanced bone age. Reports of MAS in a boy with unilateral macroorchidism are scarce. Thus, unilateral macroorchidism at birth in a baby may be a feature of MAS and should be followed up with care.

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“…At age 14 5/12 years, his right testis and left testis were measured as 52 and 27 ml, respectively (>95th centile). Unilateral testicular enlargement is usually caused by a testicular tumor [Nistal et al, 1994]. The tumor markers, alpha-fetoprotein and human chorionic gonadotropin, and testicular ultrasound were normal except for a small hydrocele noted on the right testis.…”

mentioning

confidence: 99%

“…Bilateral macroorchidism is a common finding in this syndrome [Nistal et al, 1994;Hagerman, 1996], having been reported also in transgenic mice [Dutch-Belgian Fragile X Consortium, 1994;Slegtenhorst-Eegdeman et al, 1998]. The mechanism of the macroorchidism in FXS is unclear.…”

mentioning

confidence: 99%