Premature thelarche from phenotype to genotype

Pediatric Endocrinology Reviews

Volumn 5, Issue 3, 2008, Pages 760-765

  Codner, Ethel ^a   Román, Rossana ^a,b  

^a UNIVERSITY OF CHILE   (Chile)

^b HOSPITAL SAN BORJA ARRIARÁN   (Chile)

Author keywords

Activating mutation; Estrogen; GNAS1 Gene; Precocious puberty; Precocious thelarche; Puberty

Indexed keywords

ESTROGEN; GONADORELIN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ALGORITHM; BREAST DEVELOPMENT; CHILD DEVELOPMENT; CHILD NUTRITION; CLINICAL EXAMINATION; ESTROGEN METABOLISM; GENE; GENE MUTATION; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; GNAS GENE; HUMAN; PRECOCIOUS PUBERTY; PUBERTY; REVIEW; RISK FACTOR;

BREAST; CHILD; FEMALE; GENOTYPE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; PHENOTYPE; PUBERTY, PRECOCIOUS;

EID: 41549121029     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (76)

1. Van Winter JT NK, Zimmerman D, Melton J. Natural history of premature thelarche in Olmsted County, Minnesota, 1940 to 1984. J Pediatr 1990;116(2):278-280
2. Mills JL, Stolley PD, Davies J, Moshang T, Jr. Premature thelarche. Natural history and etiologic investigation. Am J Dis Child 1981;135(8):743-745
3. Salardi S, Cacciari E, Mainetti B, Mazzanti L, Pirazzoli P. Outcome of premature thelarche: relation to puberty and final height. Arch Dis Child 1998;79(2):173-174
4. Kelch RP, Conte FA, Kaplan SL, Grumbach MM. Episodic secretion of luteinizing hormone (LH) in adolescent patients with the syndrome of gonadal dysgenesis. J Clin Endocrinol Metab 1973;36(3):424-427
5. Bidlingmaier F. Sex differences in the secretion of gonadotropins and sex hormones in newborns and infants. Fortschr Med 1980;98(7):235-238
6. Winter JS, Faiman C, Hobson WC, Prasad AV, Reyes FI. Pituitary-gonadal relations in infancy. I. Patterns of serum gonadotropin concentrations from birth to four years of age in man and chimpanzee. J Clin Endocrinol Metab 1975;40(4):545-551
7. Chellakooty M, Schmidt IM, Haavisto AM, Boisen KA, Damgaard IN, Mau C, Petersen JH, Juul A, Skakkebaek NE, Main KM. Inhibin A, inhibin B. follicle-stimulating hormone, luteinizing hormone, estradiol, and sex hormone-binding globulin levels in 473 healthy infant girls. J Clin Endocrinol Metab 2003;88(8):3515-3520
8. Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB, Jr. Premature thelarche and central precocious puberty: the relationship between clinical presentation and the gonadotropin response to luteinizing hormone-releasing hormone. J Clin Endocrinol Metab 1988;67(3):474-479
9. Shoot DC HJ, Bennink c, Mannearts B, Lamberts S, Bouchard P. Human Recombinant Follicle-stimulating hormones induces growth preovulatoty follicles without concominant increase in androgen and estrogen biosynthesis in a woman with isolated gonadotropin deficiency. J Clin Endrocrinol Metab 1992(74):1471-1473
10. Klein KO, Mericq V, Brown-Dawson JM, Larmore KA, Cabezas P, Cortinez A. Estrogen levels in girls with premature thelarche compared with normal prepubertal girls as determined by an ultrasensitive recombinant cell bioassay. J Pediatr 1999;134(2):190-192
11. Freedman SM, Kreitzer PM, Elkowitz SS, Soberman N, Leonidas JC. Ovarian microcysts in girls with isolated premature thelarche J Pediatr 1993;122(2):246-249
12. Garibaldi LR, Aceto T, Jr, Weber C. The pattern of gonadotropin and estradiol secretion in exaggerated thelarche. Acta Endocrinol (Copenh) 1993;128(4):345-350
13. Dumic M, Tajic M, Mardesic D, Kalafatic Z. Premature thelarche: a possible adrenal disorder. Arch Dis Child 1982;57(3):200-203
14. Ilicki A, Prager Lewin R, Kauli R, Kaufman H, Schachter A, Laron Z. Premature thelarche - natural history and sex hormone secretion in 68 girls. Acta Paediatr Scand 1984;73(6):756-762
15. Pasquino AM, Pucarelli I, Passeri F, Segni M, Mancini MA, Municchi G. Progression of premature thelarche to central precocious puberty. J Pediatr 1995;126(1):11-14
16. Pasquino AM, Piccolo F, Scalamandre A, Malvaso M, Ortolani R, Boscherini B. Hypothalamic-pituitary-gonadotropic function in girls with premature thelarche. Arch Dis Child 1980;55(12):941-944
17. Sales DS, Moreira AC, Camacho-Hubner C, Ricco RG, Daneluzzi JC, Campos AD, Martinelli CE, Jr. Serum insulin-like growth factor (IGF)-I and IGF-binding protein-3 in girls with premature thelarche. J Pediatr Endocrinol Metab 2003;16(6):827-833
18. Herman-Giddens ME, Slora EJ, Wasserman RC, Bourdony CJ, Bhapkar MV, Koch GG, Hasemeier CM. Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network. Pediatrics 1997;99(4):505-512
19. Codner E, Unanue N, Gaete X, Barrera A, Mook-Kanamori D, Bazaes R, Avila A, Cassorla F. Age of pubertal events in Chilean school age girls and its relationship with socioeconomic status and body mass index. Rev Med Chil 2004;132(7):801-808
20. Marti-Henneberg C, Vizmanos B. The duration of puberty in girls is related to the timing of its onset. J Pediatr 1997;131(4):618-621
21. Elders MJ, Scott CR, Frindik JP, Kemp SF. Clinical workup for precocious puberty. Lancet 1997;350(9076):457-458
22. Kaplowitz PB, Oberfield SE. Reexamination of the age limit for defining when puberty is precocious in girls in the United States: implications for evaluation and treatment. Drug and Therapeutics and Executive Committees of the Lawson Wilkins Pediatric Endocrine Society. Pediatrics 1999;104(4 Pt 1):936-941
23. Rosenfield RL, Bachrach LK, Chernausek SD, Gertner JM, Gottschalk M, Hardin DS, Pescovitz OH, Saenger P. Current age of onset of puberty. Pediatrics 2000;106(3):622-623
24. Parent AS, Teilmann G, Juul A, Skakkebaek NE, Toppari J, Bourguignon JP. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev 2003;24(5):668-693
25. Midyett LK, Moore WV, Jacobson JD. Are pubertal changes in girls before age 8 benign? Pediatrics 2003;111(1):47-51
26. Zukauskaite S, Lasiene D, Lasas L, Urbonaite B, Hindmarsh P. Onset of breast and pubic hair development in 1231 preadolescent Lithuanian schoolgirls. Arch Dis Child 2005;90(9):932-936
27. Stanhope R, Brook CC. Thelarche variant: a new syndrome of precocious sexual maturation? Acta Endocrinol (Copenh) 1990;123(5):481-486
28. Rodriguez-Macias KA, Thibaud E, Houang M, Duflos C, Beldjord C, Rappaport R. Follow up of precocious pseudopuberty associated with isolated ovarian follicular cysts. Arch Dis Child 1999;81(1):53-56
29. Vassal G, Flamant F, Caillaud JM, Demeocq F, Nihoul-Fekete C, Lemerle J. Juvenile granulosa cell tumor of the ovary in children: a clinical study of 15 cases. J Clin Oncol 1988;6(6):990-995
30. Plantaz D, Flamant F, Vassal G, Chappuis JP, Baranzelli MC, Bouffet E, Dyon JF, Armari C, Bost M. (Granulosa cell tumors of the ovary in children and adolescents. Multicenter retrospective study in 40 patients aged 7 months to 22 years). Arch Fr Pediatr 1992;49(9):793-798
31. Mitrovic K, Zdravkovic D, Milenkovic T, Sedlecki K, Stankovic Z. (Ovarian cysts and tumors as the cause of isosexual pseudoprecocious puberty). Srp Arh Celok Lek 2006;134(7-8):305-309.
32. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome N Engl J Med 1991;325(24):1688-1695
33. Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 1986;29(4):321-324
34. Roman R, Johnson MC, Codner E, Cattani A, Garcia H, Mericq V, Boric A, Munoz M, Schneider R, Cassorla F. (Clinical and molecular study of Chilean patients with McCune-Albright syndrome). Rev Med Chil 2001;129(12):1365-1372
35. Roman R, Johnson MC, Codner E, Boric MA, aVila A, Cassorla F. Activating GNAS1 gene mutations in patients with premature thelarche. J Pediatr 2004;145(2):218-222
36. Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. Jama 1986;756(21):2980-2984
37. Matarazzo P, Lala R, Andreo M, Einaudi S, Altare F, Viora E, Buzi F, De Luca F, De Sanctis V, Rigon F, Wasniewska M, de Sanctis L, de Sanctis C. McCune-Albright syndrome: persistence of autonomous ovarian hyperfunction during adolescence and early adult age. J Pediatr Endocrinol Metab 2006;19(Suppl 2):607-617
38. Laven JS, Lumbroso S, Sultan C, Fauser BC. Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome. J Clin Endocrinol Metab 2004;89(3):1076-1078
39. de Sanctis C, Lala R, Matarazzo P, Andreo M, de Sanctis L. Pubertal development in patients with McCune-Albright syndrome or pseudohyp oparathyroidism. J Pediatr Endocrinol Metab 2003;16(Suppl 2):293-296
40. Blumenfeld Z. Ovarian function in an adult woman with McCune-Albright syndrome. J Clin Endocrinol Metab 2002;87(3):1431
41. Laven JS, Lumbroso S, Sultan C, Fauser BC. Dynamics of ovarian function in an adult woman with McCune-Albright syndrome. J Clin Endocrinol Metab 2001;86(6):2625-2630
42. Mauras N, Blizzard RM. The McCune-Albright syndrome. Acta Endocrinol Suppl (Copenh) 1986;279:207-217
43. de Sanctis L, Romagnolo D, Greggio N, Genitori L, Lala R, de Sanctis C. Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome. J Pediatr Endocrinol Metab 2002;15(Suppl 3):883-889
44. Hannon TS, King DW, Brinkman AD, Steinmetz R, Davis MM, Eugster EA, Pescovitz OH. Premature thelarche and granulosa cell tumors: a search for FSH receptor and G5alpha activating mutations. J Pediatr Endocrinol Metab 2002;15(Suppl 3):891-895
45. Rothenbuhler A, Fradin D, Heath S, Lefevre H, Bouvattier C, Lathrop M, Bougneres P. Weight-adjusted genome scan analysis for mapping quantitative trait Loci for menarchal age. J Clin Endocrinol Metab 2006;91(9):3534-3537
46. Guo Y, Shen H, Xiao P, Xiong DH, Yang TL, Guo YF, Long JR, Recker RR, Deng HW. Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche. J Clin Endocrinol Metab 2006;91(3):1009-1014
47. Luan X, Yu H, Wei X, Zhou Y, Wang W, Li P, Gan X, Wei D, Xiao J. GPR54 Polymorphisms in Chinese Girls with Central Precocious Puberty. Neuroendocrinology 2007
48. Zhao J, Xiong D-H, Guo Y, Yang T-L, Recker RR, Deng H-W. Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females 10.1093/humrep/dem052. Hum. Reprod. 2007:dem052
49. Luan X, Zhou Y, Wang W, Yu H, Li P, Gan X, Wei D, Xiao J. Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls. Eur J Endocrinol 2007;157(1):113-118
50. Kadlubar FF, Berkowitz GS, Delongchamp RR, Wang C, Green BL, Tang G, Lamba J, Schuetz E, Wolff MS. The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer. Cancer Epidemiol Biomarkers Prev 2003;12(4):327-331
51. McLachlan JA, Simpson E, Martin M. Endocrine disrupters and female reproductive health. Best Pract Res Clin Endocrinol Metab 2006;20(1):63-75
52. Cook C MaJ, Beremberg W. pseudo-precocious puberty in girls as a result of estrogen ingestion. N Engl J Med 1953(248):671-674
53. Fara GM, Del Corvo G, Bernuzzi S, Bigatello A, Di Pietro C, Scaglioni S, Chiumello G. Epidemic of breast enlargement in an Italian school. Lancet 1979;2(8137):295-297
54. Nebesio T, Pescovitz OH. Historical perspectives: Endocrine disruptors and the timing of puberty. The Endocrinolgist 2005;15(1):44-48
55. New MI. Premature thelarche and estrogen intoxication. In: McLachlan JA, editor. Estrogens in the Environment II, Influences on Development. New York: Elsevier; 1985
56. Beas F VL, Spada R. Pseudoprecocious puberty in infants caused by a dermal oinment containing estrogens. J Pediatr 1969(75):127-130
57. Tiwary CM. Premature sexual development in children following the use of estrogen- or placenta-containing hair products. Clin Pediatr (Phila) 1998;37(12):733-739
58. Tiwary CM. A survey of use of hormone/placenta-containing hair preparations by parents and/or children attending pediatric clinics. Mil Med 1997;162(4):252-256
59. Tiwary CM, Ward JA. Use of hair products containing hormone or placenta by US military personnel. J Pediatr Endocrinol Metab 2003;16(7):1025-1032
60. Henley DV, Lipson N, Korach KS, Bloch CA. Prepubertal Gynecomastia Linked to Lavender and Tea Tree Oils. N Engl J Med 2007;356(5):479-485
61. Bongiovanni AM. An epidemic of premature thelarche in Puerto Rico. J Pediatr 1983;103(2):245-246
62. Saenz de Rodriguez CA, Bongiovanni AM, Conde de Borrego L. An epidemic of precocious development in Puerto Rican children. J Pediatr 1985;107(3):393-396
63. Fortes EM, Malerba MI, Luchini PD, Sugawara EK, Sumodjo L, Ribeiro Neto LM, Verreschi IT. (High intake of phytoestrogens and precocious thelarche: case report with a possible correlation). Arq Bras Endocrinol Metabol 2007;51(3):500-503
64. Carvalho LR, Mimura LY, Arnhold IJ, Mendonca BB. Premature thelarche in girls after growth hormone therapy. J Pediatr 2001;138(3):448-449
65. Kaplowitz PB, Slora EJ, Wasserman RC, Pedlow SE, Herman-Giddens ME. Earlier onset of puberty in girls: relation to increased body mass index and race. Pediatrics 2001;108(2):347-353
66. Biro FM, Lucky AW, Simbartl LA, Barton BA, Daniels SR, Striegel-Moore R, Kronsberg SS, Morrison JA. Pubertal maturation in girls and the relationship to anthropometric changes: pathways through puberty. J Pediatr 2003;142(6):643-646
67. Lee JM, Appugliese D, Kaciroti N, Corwyn RF, Bradley RH, Lumeng JC. Weight Status in Young Girls and the Onset of Puberty. Pediatrics 2007;119(3):E624-E630
68. Davison KK, Susman EJ, Birch LL. Percent body fat at age 5 predicts earlier pubertal development among girls at age 9. Pediatrics 2003;111(4 Pt 1):815-821
69. Dunger DB, Ahmed ML, Ong KK. Early and late weight gain and the timing of puberty. Mol Cell Endocrinol 2006;254-255:140-145
70. Mantzoros CS, Flier JS, Rogol AD. A longitudinal assessment of hormonal and physical alterations during normal puberty in boys. V. Rising leptin levels may signal the onset of puberty. J Clin Endocrinol Metab 1997;82(4):1066-1070
71. Chehab FF, Mounzih K, Lu R, Lim ME. Early onset of reproductive function in normal female mice treated with leptin. Science 1997;275(5296):88-90
72. Holly JM, Smith CP, Dunger DB, Howell RJ, Chard T, Perry LA, Savage MO, Cianfarani S, Rees LH, Wass JA. Relationship between the pubertal fall in sex hormone binding globulin and insulin-like growth factor binding protein-1. A synchronized approach to pubertal development? Clin Endocrinol (Oxf) 1989;31(3):277-284
73. Reinehr T, de Sousa G, Roth CL, Andler W. Androgens before and after weight loss in obese children. J Clin Endocrinol Metab 2005;90(10):5588-5595
74. One KK, Potau N, Petry CJ, Jones R, Ness AR, Honour JW, de Zegher F, Ibanez L, Dunger DB. Opposing influences of prenatal and postnatal weight gain on adrenarche in normal boys and girls. J Clin Endocrinol Metab 2004;89(6):2647-2651
75. Sun SS, Schubert CM, Chumlea WC, Roche AF, Kulin HE, Lee PA, Himes JH, Ryan AS. National estimates of the timing of sexual maturation and racial differences among US children. Pediatrics 2002;110(5):911-919
76. Hernandez MI, Unanue N, Gaete X, Cassorla F, Codner E. Age of menarche and its relationship with body mass index and socioeconomic status. Rev Med Chil 2007;135(11):1429-1436