McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation

Hormone Research

Volumn 65, Issue 3, 2006, Pages 114-119

  Arrigo, Teresa ^a   Pirazzoli, Piero ^b   De Sanctis, Luisa ^c   Leone, Ornella ^b   Wasniewska, Malgorzata ^a   Messina, Maria Francesca ^a   De Luca, Filippo ^a,d  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF MESSINA   (Italy)

Author keywords

GNAS1 gene; Monolateral macroorchidism; R201C mutation; Sertoli cell hyperfunction; Testicular enlargement

Indexed keywords

ARGININE; CYSTEINE; GONADORELIN; INHIBIN B; TESTOSTERONE;

ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; ENDOCRINE SYSTEM EXAMINATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MACROORCHIDISM; MALE; MEDICAL EXAMINATION; MUTATIONAL ANALYSIS; PREPUBERTY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SERTOLI CELL; SEX HORMONE DETERMINATION; TESTICULAR ENLARGEMENT; TESTIS BIOPSY; TESTOSTERONE BLOOD LEVEL; TISSUE SECTION;

EID: 33645244296     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000091279     Document Type: Article

References (24)

1. McKusick VA: Personal communication. Baltimore, 1988.
2. Albright F, Butler AM, Hampton AO, Smith P: Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. N Engl J Med 1937;216:727-746.
3. Collins MT, Shenker A: McCune-Albright syndrome: new insights. Curr Opin Endocrinol Diabetes 1999;6:119-125.
4. Ringel MD, Schwindinger WF, Levine MA: Clinical implications of genetic defects in G proteins: the molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine 1996;75:171-184.
5. Grumbach MM, Stynne DM: Puberty: ontogeny, neuroendocrinology, physiology, and disorders; in Wilson JD, Foster DW, Kronenberg HM, Larsen PR (eds): Williams Textbook of Endocrinology, ed 9. Philadelphia, Saunders, 1998. pp 1509-1625.
6. Tanner JM, Whitehouse RH: Clinical longitudinal standards for height, weight, height velocity, weight velocity and the stages of puberty. Arch Dis Child 1976;51:170-179.
7. Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford, Stanford University Press, 1959.
8. Lahlou N, Chabbert-Buffet N, Christin-Maitre S, Le Nestour E, Roger M, Bouchard P: Main inhibitor of follicle stimulating hormone in the luteal-follicular transition: inhibin A, oestradiol, or inhibin B? Hum Reprod 1999;14:190-193.
9. Arrigo T, De Luca F, Maghnie M, Blandino A, Lombardo F, Messina MF, Wasniewska M, Ghizzoni L, Bozzola M: Relationships between neuroradiological and clinical features in apparently idiopathic hypopituitarism. Eur J Endocrinol 1998;139:84-89.
10. Candeliere GA, Rougliley PJ, Glorieux FH: Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic Arg201 mutations in Gsa from patients with fibrous dysplasia of the bone. Bone 1997;21:201-206.
11. Majzoub JA, Scully RE: Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1993. A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity. N Engl J Med 1993;328:496-502.
12. Benedict PH: Sex precocity and polyostotic fibrous dysplasia: report of a case in a boy with testicular biopsy. Am J Dis Child 1966;111:426-429.
13. Nitzan M, Laron Z, Pertzelan A, Scharf A: McCune-Albright syndrome with sexual precocity in a boy. Helv Paediatr Acta 1973;28:61-65.
14. Lightner ES, Penny R, Frasier SD: Growth hormone excess and sexual precocity in polyostotic fibrous dysplasia (McCune-Albright syndrome): evidence for abnormal hypothalamic function. J Pediatr 1975;87:922-927.
15. Giovanelli G, Bernasconi S, Banchini G: McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma. J Pediatr 1978;92:220-226.
16. Weinstein LS, Shenker A, Spiegel AM: Activating G protein mutations are present in the majority of patients with McCune-Albright syndrome (MAS) [abstract]. 74th Annual Meet Endocrine Soc, 1992.
17. Coutant R, Lumbroso S, Rey R, Lahlou N, Venara M, Rouleau S, Sultan Ch, Limal JM : Macroorchidism due to autonomous hyperfunction of Sertoli cells and Gsa gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy. J Clin Endocrinol Metab 2000;86:1778-1781.
18. Nistal M, Martinez-Garcia F, Regadera J, Cobo P, Paniagua R: Macro-orchidism: a clinicopathological approach. J Urol 1994;161:1155-1161.
19. Laron Z, Zilka E: Compensatory hypertrophy of testicle in unilateral cryptorchidism. J Clin Endocrinol Metab 1969;29:1409-1413.
20. Lee PA, Marshall FF, Greco JM, Jeffs RD: Unilateral testicular hypertrophy: an apparently benign occurrence without cryptorchidism. J Urol 1982;127:329-331.
21. Limprasert P, Jaruratanasikul S, Vasiknanonte P: Unilateral macroorchidism in fragile X syndrome. Am J Med Genet 2000; 95:516-517.
22. Kremer H, Martens JWM, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SLS, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JMH, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman ECM, Themmen APN, Brunner HG: A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. J Clin Endocrinol Metab 1999;84:1136-1140.
23. Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Vanwyk JJ, Merino MJ, Feuillan PP, Spiegel AM: Severe endocrine and non-endocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993;123:509-518.
24. Feuillan P, Merke D, Leschek EW, Cutler GB Jr: Use of aromatase inhibitors in precocious puberty. Endocr Rel Cancer 1999;6:303-306.