Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 7, 2009, Pages 2262-2268

  Hirsch, Harry J ^a   Eldar Geva, Talia ^a   Benarroch, Fortu ^b   Rubinstein, Orit ^a   Gross Tsur, Varda ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTENEDIONE; FOLLITROPIN; GROWTH HORMONE; INHIBIN B; INSULIN; LUTEINIZING HORMONE; METFORMIN; METHYLPHENIDATE; MUELLERIAN INHIBITING FACTOR; PRASTERONE SULFATE; RISPERIDONE; TESTOSTERONE; TOPIRAMATE; VALPROIC ACID;

ADOLESCENT; ADRENARCHE; ANAMNESIS; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CRYPTORCHISM; DISEASE SEVERITY; FOLLITROPIN BLOOD LEVEL; GENITAL SYSTEM; GONAD DEVELOPMENT; GROUPS BY AGE; HORMONE BLOOD LEVEL; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LUTEINIZING HORMONE BLOOD LEVEL; MALE; ORCHIDOPEXY; PHYSICAL EXAMINATION; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PUBERTY; SEXUAL DEVELOPMENT; TESTIS DISEASE; TESTOSTERONE BLOOD LEVEL;

EID: 67650251724     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-2760     Document Type: Article

References (39)

1. Cassidy SB, Driscoll DJ 2009 Prader-Willi syndrome. Eur J Hum Genet 17: 3-13
2. Goldstone AP 2004 Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 15:12-20
3. Benarroch F, Hirsch HJ, Genstil L, Landau YE, Gross-Tsur V 2007 Prader-Willi syndrome: medical prevention and behavioral challenges. Child Adolesc Psychiatr Clin N Am 16:695-708
4. Burman P, Ritzén EM, Lindgren AC 2001 Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev 22:787-799
5. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M 2008 Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 93:4183-4197
6. Crinò A, Di Giorgio G, Schiaffini R, Fierabracci A, Spera S, Maggioni A, Gattinara GC 2008 Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome. Eur J Pediatr 167:1455-1458
7. Crinò A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, Gargantini L, Salvatoni A, Tonini G, Trifirò G, Livieri C, Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology (SIEDP) 2003 Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr 162:327-333
8. Fillion M, Deal CL, Van Vliet G 2006 Normal minipuberty of infancy in boys with Prader-Willi syndrome. J Pediatr 149:874-876
9. Akefeldt A, Törnhage CJ, Gilberg C 1999 A woman with Prader-Willi syndrome gives birth to a healthy baby girl. Dev Med Child Neurol 41:789-790
10. Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brøndum-Nielsen K 2001 Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr 90:455-459
11. Jeffcoate WJ, Laurance BM, Edwards CR, Besser GM 1980 Endocrine function in the Prader-Willi syndrome. Clin Endocrinol (Oxf) 12:81-89
12. Katcher ML, Bargman GJ, Gilbert EF, Opitz JM 1977 Absence of spermatogonia in the Prader-Willi syndrome. Eur J Pediat 124:257-260
13. Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Grüters A, Simoni M 2006 Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhardt-Willi syndrome. J Clin Endocrinol Metab 91:892-898
14. Vogels A, Moerman P, Frijns JP, Bogaert GA 2008 Testicular histology in boys with Prader-Willi syndrome: fertile or infertile? J Urol 180:1800-1804
15. Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D 2004 A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy. Am J Med Genet A 129A:176-179
16. Tanner JM 1962 Growth at adolescence. 2nd ed. Oxford, UK: Blackwell Scientific; 88-102
17. Carel JC, Léger J 2008 Precocious puberty. N Engl J Med 358:2366-2377
18. Schonfeld WA, Beebe GW 1942 Normal growth and variation in the male genitalia from birth to maturity. J Urol 48:759-777
19. Keefer JR 2000 Endocrinology. In: Siberry GK, Iannone R, eds. Harriet Lane handbook. St. Louis, MO: Mosby; 277
20. Endocrinology expected values and SI unit conversion pocket book. Austin, TX: Esoterix Laboratory Services, Inc. http://www.esoterix.com/files/expected- values.pdf
21. Rey R, Lordereau-Richard I, Carel JC, Barbet P, Cate RL, Roger M, Chaussain JL, Josso N 1993 Anti-Mullerian hormone and testosterone serum levels are inversely related during normal and precocious pubertal development. J Clin Endocrinol Metab 77:1220-1226
22. Rey RA, Codner E, Iñíguez G, Bedecarrá s P, Trigo R, Okuma C, Gottlieb S, Bergadá I, Campo SM, Cassorla FG 2005 Low risk of impaired testicular Sertoli and Leydig cell functions in boys with isolated hypospadias. J Clin Endocrinol Metab 90:6035-6040
23. Lee MM, Donahoe PK, Hasegawa T, Silverman B, Crist GB, Best S, Hasegawa Y, Noto RA, Schoenfeld D, MacLaughlin DT 1996 Mullerian inhibiting substance in humans: normal levels from infancy to adulthood. J Clin Endocrinol Metab 81:571-576
24. Soriano-Guillen L, Mitchell V, Carel JC, Barbet P, Roger M, Lahlou N 2006 Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation. J Clin Endocrinol Metab 91:3041-3047
25. Andersson AM, Juul A, Petersen JH, Müller J, Groome NP, Skakkebaek NE 1997 Serum Inhibin B in healthy pubertal and adolescent boys: relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels. J Clin Endocrinol Metab 82:3976-3981
26. Sørensen K, Andersson AM, Skakkebaek NE, Juul A 2007 Serum sex hor-mone-binding globulin levels in healthy children and girls with precocious puberty before and during gonadotropin-releasing hormone agonist treatment. J Clin Endocrinol Metab 92:3189-3196
27. Herman-Giddens ME, Wang L, Koch G 2001 Secondary sexual characteristics in boys: estimates from the National Health and Nutrition Examination Survey III, 1988-1994. Arch Pediatr Adolesc Med 155:1022-1028
28. Eiholzer U, Grieser J, Schlumpf M, l'Allemand D 2007 Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome. Horm Res 68:178-184
29. Denzer C, Weibel A, Muche R, Karges B, Sorgo W, Wabitsch M 2007 Pubertal development in obese children and adolescents. Int J Obes (Lond) 31:1509-1519
30. Färber C, Gross S, Neesen J, Buiting K, Horsthemke B 2000 Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. Genomics 65:174-183
31. Miller NL, Wevrick R, Mellon PL 2009 Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Hum Mol Gen 18:248-260
32. Gracia J, Sánchez Zalabardo J, Sánchez García J, García C, Ferrández A 2000 Clinical, physical, sperm, and hormonal data in 251 adults operated on for cryptorchidism in childhood. BJU Int 85:1100-1103
33. Lee PA, Coughlin MT 2001 Fertility after bilateral cryptorchidism. Horm Res 55:28-32
34. Brandau DT, Theodoro M, Garg U, Butler MG 2008 Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome. Am J Med Genet A 146A:665-669
35. Young J, Rey R, Couzinet B, Chanson P, Josso N, Schaison G 1999 Antimullerian hormone in patients with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 84:2696-2699
36. Lahlou N, Fennoy I, Carel JC, Roger M 2004 Inhibin B and antimullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J Clin Endocrinol Metab 89:1864-1868
37. Bastida MG, Rey R, Bergada I, Bedecarras P, Andreone L, del Rey G, Boywitt A, Ropelato MG, Cassinelli H, Arcari A, Campo S, Gottlieb S 2007 Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 67:863-870
38. Wikström AM, Dunkel L 2008 Testicular function in Klinefelter syndrome. Horm Res 69:317-326
39. de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega ACS 2008 High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 93:1649-1654