Gonadotropin independent precocious puberty

Journal of Pediatric Endocrinology and Metabolism

Volumn 11, Issue 4, 1998, Pages 497-507

  Low, Louis C K ^a,c   Wang, Qian ^b  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^c QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; GONADORELIN DERIVATIVE; KETOCONAZOLE;

ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; CLINICAL FEATURE; GENE MUTATION; HUMAN; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; PRECOCIOUS PUBERTY; REVIEW;

EID: 0031709741     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1998.11.4.497     Document Type: Review

References (75)

1. Schoevaart CE, Drop SLS, Otten BJ, Slijpen FME, Degenhart HJ. Growth analysis up to final height and psychosocial adjustment of treated and untreated patients with precocious puberty. Honn Res 1990; 34: 197-203.
2. Kletter GB, Kelch RP. Effects of gonadotropin-releasing hormone analogue therapy on adult stature in precocious puberty. J Clin Endocrinol Metab 1994; 79: 331-334.
3. Wierman ME, Beardworth DE, Mansfield MJ, Badger TM, Crawford JD, Crigler JF Jr, Bode HH, Loughlin JS, Kushner DC, Scully RE, Hoffman WH, Crowley WF. Puberty without gonadotropins. A unique mechanism of sexual development. N Engl J Med 1985; 315: 65-72.
4. Rosenthal SM, Grumbach MM, Kaplan SL. Gonadotropin-independent precocious puberty (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. J Clin Endocrinol Metab 1983; 57: 571-579.
5. Foster CM, Ross JL, Shawker T, Pescovitz OH, Loriaux DL, Cutler GB Jr, Comite F. Absence of pubertal gonadotropin secretion in girls with McCune-Albright syndrome. J Clin Endocrinol Metab 1984; 58: 1161-1165.
6. Mortimer EA. Family constitutional precocious puberty in a boy three years of age. Pediatrics 1954; 13: 174-177.
7. 19-steroid excretion. J Clin Endcrinol Metab 1962; 22: 1095-1102.
8. Schedewie HK, Reiter EO, Beitins IZ, Seyed S, Wooten VD, Jimenez JF, Aiman EJ, DeVane GW, Redman JF, Elders MJ. Testicular Leydig cell hyperplasia as a cause of familial sexual precocity. J Clin Endocrinol Metab 1981; 52: 271-278.
9. Egli CA, Rosenthal SM, Grumbach MM, Montalvo JM, Gondos B. Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. J Pediatr 1985; 106: 33-40.
10. Lim YJ, Low LCK. Familial testotoxicosis in a Chinese family. Eur J Pediatr 1994; 153: 241-244.
11. Reiter EO, Brown RS, Longcoke C, Beitins IZ. Male-limited familial precocious puberty in three generations: apparent Leydig-cell autonomy and elevated glycoprotein hormone alpha subunit. N Engl J Med 1984; 311: 515-519.
12. Pike AW, Klein JL, Gotlin RW, Fennessey PV. The role of steroid metabolic profiling as an aid in the diagnosis of familial precocious puberty, a subgroup of true precocious puberty. J Inherit Metab Dis 1986; 9: 147-155.
13. Holland FJ. Gondotropin-independent precocious puberty. Endocrinol Metab Clin North Am 1991; 20: 191-210.
14. Root AW, Zamanillo J, Duckett G, Sweetland M. Gonadotropin-independent isosexual precocity in a boy with tuberous sclerosis: effect of ketoconazole. J Pediatr 1986; 109: 1012-1015.
15. Boepple PA, Frisch LS, Wierman ME, Hoffman WH, Crowley WF Jr. The natural history of autonomous gonadal function, adrenarche, and central puberty in gonadotropin independent precocious puberty. J Clin Endocrinol Metab 1992; 75: 1550-1555.
16. Gondos B, Egli CA, Rosenthal SM, Grumbach MM. Testicular changes in gonadotropin-independent familial male sexual precocity. Arch Pathol Lab Med 1985; 109: 990-995.
17. Apter D. Ultrasensitive new immunoassays for gonadotropins in the evaluation of puberty. Curr Opin Pediatr 1993; 5: 481-487.
18. Rey R, Lordereau-Richard I, Carel JC, Barbet P, Cate RL, Roger M, Chaussin JL, Josso N. Anti-mullerian hormone and testosterone serum levels are inversely proportional during normal and precocious pubertal development. J Clin Endocrinol Metab 1993; 77: 1220-1226.
19. Steinberger E, Root A, Ficher M, Smith KD. The role of androgens in the initiation of spermatogenesis in man. J Clin Endocrinol Metab 1973; 37: 746-751.
20. Shenkar A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993; 365: 652-654.
21. Yano, Kohn LD, Saji M, Kataoka N, Okuno A, Cutler GB Jr. A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. Biochem Biophys Res Comm 1996; 220: 1036-1042.
22. Kraaij R, Post M, Kremer H, Milgrom E, Epping W, Brunner HG, Grootegoed JA, Themmen AP. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. J Clin Endocrinol Metab 1995; 80: 3168-3172.
23. Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB Jr. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA 1995; 92: 1906-1910.
24. Latronico AC, Anasti J, Arnhold IJ, Mendonca BB, Domenice S, Albano MC, Zachman K, Wajchenberg BL, Tsigos C. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab 1995; 80: 2490-2494.
25. Laue L, Wu SM, Kudo M, Hsueh AJW, Cutler GB Jr, Jelly DH, Diamond FB, Chan WY. Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty. Biochem Mol Med 1996; 58: 192-196.
26. Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel JC, Chaussain JL, Mori T, Merendino Jr JJ, Shenkar A. Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Hum Mol Genet 1995; 4:183-188.
27. Yano K, Saji M, Hidaka A, Moriya N, Okuno A, Kohn LD, Cutler Jr GB. A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. J Clin Endocrinol Metab 1995; 80: 1162-1168.
28. Yano K, Hidaka A, Saji M, Polymeropoulos MH, Okuno A, Kohn LD, Cutler GB Jr. A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab 1994; 79: 1818-1823.
29. Kawate N, Kletter GB, Wilson BE, Netzloff ML, Menon KM. Identification of constitutively activating mutation of the luteinizing hormone receptor in a family with male limited gonadotropin independent precocious puberty (testotoxicosis). J Med Genet 1995; 32: 553-554.
30. Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, Brunner HG. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet 1993; 2: 1779-1783.
31. Kosugi S, Mori T, Shenkar A. The role of Asp 578 in maintaining the inactive conformation of human lutropin/choriogonadotropin receptor. J Biol Chem 1996; 271: 31813-31817.
32. Manasco PK, Girtow ME, Diggs RL, Doppman JL, Feuillan PP, Barnes KM, Cutler GB Jr, Loriaux DL, Albertson BD. A novel testis-stimulating factor in familial male precocious puberty. N Engl J Med 1991; 324: 227-231.
33. Nakamoto JM, Zimmerman D, Jones EA, Loke KY, Siddiq K, Donlan MA, Brickman AS, Van Dop C. Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the GαS gene. Biochem Mol Med 1996; 58: 18-24.
34. Iiri T, Herzmark P, Nakamoto JM, Van Dop C, Bourne HR. Rapid GDP release from Gsα in patients with gain and loss of endocrine function. Nature 1994; 371: 164-168.
35. Holland FJ, Fishman L, Bailey JD, Fazekas ATA. Ketoconazole in the management of precocious puberty not responsive to LHRH-analogue therapy. N Engl J Med 1985; 313: 1023-1028.
36. Barbieri RL, Ryan KT. Direct effects of medroxyprogesterone acetate (MPA) and megestrol acetate (MGA) on rat testicular steroidogenesis. Acta Endocrinol (Copenh) 1980; 94: 419-425.
37. Sonino N. The use of ketoconazole as an inhibitor of steroid production. N Engl J Med 1987; 317: 812-817.
38. Holland FJ, Kirsch SE, Selby R. Gonadotropin independent precocious puberty ('testotoxicosis'): influenze of maturational status on response to ketoconazole. J Clin Endocrinol Metab 1987; 64: 328-333
39. Laue L, Kenisberg D, Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB Jr. Treatment of familial male precocious puberty with spironolactone and testolactone. N Engl J Med 1989; 320: 496-502.
40. Laue L, Jones J, Barnes KM, Gutler GB Jr. Treatment of familial male precocious puberty with spironolactone, testolactone and desorelin. J Clin Endocrinol Metab 1993; 76: 151-155.
41. McCune DJ. Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of skin and hyperthyroidism. Am J Dis Child 1936; 52: 743-747.
42. 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. N Engl J Med 1937; 26: 726-746.
43. Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. JAMA 1986; 256: 2980-2984.
44. Foster CM, Ross JL, Shawker T, Pescovitz OH, Loriaux DL, Cutler GB Jr, Comite F. Absence of pubertal gonadotropins secretion in girls with McCune-Albright syndrome. J Clin Endocrinol Metab 1984; 58: 1161-1165.
45. Case records of the Massachusetts General Hospital. N Engl J Med 1989; 321: 1463-1471.
46. Manna C, Epifano O, Riminucci M, Baschieri L, Stephanini M, Canipari R. In vitro production of oestradiol by ovarian granulosa cells in a case of McCune-Albright syndrome. J Endocrinol Invest 1991; 14: 311-315.
47. Schwartz RA, Spicer MS, Leevy CB, Ticker JB, Lambert WC. Cutaneous fibrous dysplasia: an incomplete form of McCune-Albright syndrome. Dermatology 1996; 192: 258-261.
48. Patel L, Clayton PE, Super M, Price DA. Gonadotrophin-independent precocious puberty and dyschondrosteosis. J Pediatr Endocrinol 1994; 7: 265-267.
49. Cutler L, Jackson JA, Saeed uz-Zafar M, Levisky LL, Mellinger RC, Frohman LA. Hypersecretion of growth hormone and prolactin in McCune-Albright syndrome. J Clin Endocrinol Metab 1989; 68: 1148-1154.
50. Kovacs K, Horvath E, Thorner MO, Rogol AD. Mammosomatotroph hyperplasia associated with acromegaly and hyperprolactinemia in a patient with McCune-Albright syndrome. Virchows Arch [Pathol Anat] 1984: 403: 77-86.
51. Feuillan PP, Jones J, Ross JL. Growth hormone hypersecretion in a girl with McCune-Albright syndrome: Comparison with controls and response to a dose of long-acting somatostatin analog. J Clin Endocrinol Metab 1995; 80: 1357-1360.
52. Danon M, Robboy SJ, Kim S, Scully R, Crawford JD. Cushing syndrome, sexual precocity and polyostotic fibrous dysplasia (Albright syndrome) in infancy. J Pediatr 1975; 87: 917-921.
53. Foster CM, Comite F, Pescovitz OH, Ross JL, Loriaux DL, Cutler GB Jr. Variable response to a long-acting agonist of luteinizing hormone-releasing hormone in girls with McCune-Albright syndrome. J Clin Endocrinol Metab 1984; 59: 801-805.
54. Kaufman PR, Costin G, Reid BS. Autonomous ovarian hyperfunction followed by gonadotrophin-dependent puberty in McCune-Albright syndrome. Clin Endocrinol 1986; 24: 239-242.
55. Pasquino AM, Tebaldi L, Cives C, Maciocci M, Boscherini B. Precocious puberty in the McCune-Albright syndrome. Progression from gonadotrophin-independent to gonadotrophin-dependent puberty in a girl. Acta Paediatr Scand 1987; 76: 841-843.
56. Foster CM, Feuillan P, Padmanabhan V, Pescovitz OH, Beitins IZ, Comite, Shawker TH, Loriaux DL, Cutler GB Jr. Ovarian function in girls with McCune-Albright syndrome. Pediatr Res 1986; 20: 859-863.
57. Low LCK, Wang C, Leung A, Leong LY. Undetectable levels of serum FSH immunoactivity and bioactivity in girls with sexual precocity due to ovarian cysts. Acta Paediatr 1994; 83: 623-626.
58. Wang C, Zhong CQ, Leung A, Low LCK. Serum bioactive follicle-stimulating hormone levels in girls with precocious sexual development. J Clin Endocrinol Metab 1990; 70: 615-619.
59. Stokvis-Brantsma WH, van Weissenbruch MM, Wit JM, Schoemaker J, Drexhage HA. Sexual precocity induced by ovarian follicular cysts. Is autoimmunity involved? Clin Endocrinol 1990; 32: 603-612.
60. Feuillan PP, Jones J, Oerter KE, Manasco PK, Cutler GB Jr. Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome. J Clin Endocrinol Metab 1991; 73: 1370-1373.
61. Chasalow FI, Granoff AB, Tse TF, Blethen SL. Adrenal steroid secretion in girls with pseudoprecocious puberty due to autonomous ovarian cysts. J Clin Endocrinol Metab 1986; 63: 828-834.
62. Richards GE, Kaplan SL, Grumbach MM. Sexual precocity caused by ovarian follicular cysts: Spontaneous regression and recurrence with prepubertal gonadotropin levels. Pediatr Res 1977; 11: 431A.
63. Simon MI, Strathmann MP, Gautam N. Diversity of G proteins in signal transduction. Science 1991; 252: 802-808.
64. Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: a conserved switch for diverse cell function. Nature 1990; 348: 125-132.
65. Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh QY, Clark OH, Kawasaki E, Bourne HR, McCormick F. Two G protein oncogenes in human endocrine tumours. Science 1990; 249: 655-659.
66. Weinstein LS, Shenkar A, Gejman SV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-1695.
67. Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 1992; 89: 5152-5156.
68. Endo M, Yamada Y, Matsura N, Niikawa N. Monzygotic twins discordant for the major signs of McCune-Albright syndrome. Am J Med Genet 1991; 41: 216-220.
69. Sorgo W, Kirally E, Homoki J, Heinze E, Teller WM, Bierich JR, Moeller H, Ranke MB, Butenandt O, Knorr D. The effects of cyproterone acetate in statural growth in children with precocious puberty. Acta Endocrinol Copenh 1987; 115: 44-56.
70. Carani C, Pachioni C, Baldini A, Zini D. Effects of cyproterone acetate, LHRH agonist and ovarian surgery in McCune-Albright syndrome with precocious puberty and galactorrhoea. J Endocrinol Invest 1988; 11: 419-423.
71. Foster CM, Pescovitz OH, Comite F, Feuillan P, Shawker T, Loriaux DL, Cutler GB Jr. Testolactone treatment of precocious puberty in McCune-Albright syndrome. Acta Endocrinol Copenh 1985; 109; 254-257.
72. Hauffa BP, Havers W, Stolecke H. Short-term effects of testolactone compared to other treatment modalities on longitudinal growth and ovarian activity in a girl with McCune-Albright syndrome. Helv Paediatr Acta 1987; 42: 471-480.
73. Feuillan PP, Foster CM, Pescovitz OH, Hench KD, Shawker T, Dwyer A, Malley JD, Barnes K, Loriaux DL, Cutler GB Jr. Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone. N Engl J Med 1986; 315: 1115-1119.
74. Feuillan PP, Jones J, Cutler GB Jr. Long-term testolactone therapy for precocious puberty in girls with the McCune-Albright syndrome. J Clin Endocrinol Metab 1993; 77: 647-651.
75. Young RH, Dickersin GR, Scully RE. Juvenile granulosa cell tumor of the ovary. A clinicopathological analysis of 125 cases. Am J Surg Pathol 1984; 8: 575-596.