Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome

被引：6

作者：

Aversa, Tommaso ^{[1
]}

Zirilli, Giuseppina ^{[1
]}

Corica, Domenico ^{[1
]}

De Luca, Filippo ^{[1
]}

Wasniewska, Malgorzata ^{[1
]}

机构：

[1] Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria, I-98124 Messina, Italy

来源：

ITALIAN JOURNAL OF PEDIATRICS | 2018年 / 44卷

关键词：

Macroorchidism; Peripheral precocious puberty; Testicular lesions; Testicular microlithiasis; Therapeutic strategies; PERIPHERAL PRECOCIOUS PUBERTY; CYPROTERONE-ACETATE; MACROORCHIDISM; MICROLITHIASIS; KETOCONAZOLE; MANAGEMENT; MALES; CELLS;

D O I：

10.1186/s13052-018-0577-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that: 1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP.

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页数：4

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共 19 条

[1] McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation [J].

Arrigo, T ;

Pirazzoli, P ;

De Sanctis, L ;

Leone, O ;

Wasniewska, M ;

Messina, MF ;

De Luca, F .

HORMONE RESEARCH, 2006, 65 (03) :114-119

[2] Characterization and Management of Testicular Pathology in McCune-Albright Syndrome [J].

Boyce, Alison M. ;

Chong, William H. ;

Shawker, Thomas H. ;

Pinto, Peter A. ;

Linehan, W. Marsten ;

Bhattacharryya, Nisan ;

Merino, Maria J. ;

Singer, Frederick R. ;

Collins, Michael T. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (09) :E1782-E1790

[3] Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome [J].

Corica, Domenico ;

Aversa, Tommaso ;

Pepe, Giorgia ;

De Luca, Filippo ;

Wasniewska, Malgorzata .

FRONTIERS IN ENDOCRINOLOGY, 2018, 9

[4] Macroorchidism due to autonomous hyperfunction of Sertoli cells and Gsα gene mutation:: An unusual expression of McCune-Albright syndrome in a prepubertal boy [J].

Coutant, R ;

Lumbroso, S ;

Rey, R ;

Lahlou, N ;

Venara, M ;

Rouleau, S ;

Sultan, C ;

Limal, JM .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (04) :1778-1781

[5] Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up [J].

De Luca, Filippo ;

Mitchell, Valerie ;

Wasniewska, Malgorzata ;

Arrigo, Teresa ;

Messina, Maria Francesca ;

Valenzise, Mariella ;

de Sanctis, Luisa ;

Lahlou, Najiba .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2008, 158 (06) :921-927

[6] McCune-Albright syndrome [J].

Dumitrescu, Claudia E. ;

Collins, Michael T. .

ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)

[7] McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses [J].

Khanna, Geetika ;

Kantawala, Kartikeya ;

Shinawi, Marwan ;

Sarwate, Sandhya ;

Dehner, Louis P. .

PEDIATRIC RADIOLOGY, 2010, 40 :16-20

[8] Activating Gsα mutations:: Analysis of 113 patients with signs of McCune-Albright syndrome -: A European Collaborative Study [J].

Lumbroso, S ;

Paris, F ;

Sultan, C .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (05) :2107-2113

[9] Unusual Phenotypical Variations in a Boy with McCune-Albright Syndrome [J].

Mamkin, Irene ;

Philibert, Pascal ;

Anhalt, Henry ;

Ten, Svetlana ;

Sultan, Charles .

HORMONE RESEARCH IN PAEDIATRICS, 2010, 73 (03) :215-222

[10] Combined treatment with ketoconazole and cyproterone acetate in a boy with McCune-Albright syndrome and peripheral precocious puberty [J].

Messina, M. F. ;

Arrigo, T. ;

Wasniewska, M. ;

Lombardo, F. ;

Crisafulli, G. ;

Salzano, G. ;

De Luca, F. .

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2008, 31 (09) :839-840