Causes, diagnosis, and treatment of central precocious puberty
Tài liệu tham khảo
Parent, 2003, The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration, Endocr Rev, 24, 668, 10.1210/er.2002-0019
Marshall, 1970, Variations in the pattern of pubertal changes in boys, Arch Dis Child, 45, 13, 10.1136/adc.45.239.13
Marshall, 1969, Variations in pattern of pubertal changes in girls, Arch Dis Child, 44, 291, 10.1136/adc.44.235.291
Herman-Giddens, 1997, Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network, Pediatrics, 99, 505, 10.1542/peds.99.4.505
Aksglaede, 2009, Recent decline in age at breast development: the Copenhagen Puberty Study, Pediatrics, 123, e932, 10.1542/peds.2008-2491
Roelants, 2009, References for growth and pubertal development from birth to 21 years in Flanders, Belgium, Ann Hum Biol, 36, 680, 10.3109/03014460903049074
Biro, 2013, Onset of breast development in a longitudinal cohort, Pediatrics, 132, 1019, 10.1542/peds.2012-3773
Willemsen, 2014, Pros and cons of GnRHa treatment for early puberty in girls, Nat Rev Endocrinol, 10, 352, 10.1038/nrendo.2014.40
Kaplowitz, 2011, Update on precocious puberty: girls are showing signs of puberty earlier, but most do not require treatment, Adv Pediatr, 58, 243, 10.1016/j.yapd.2011.03.004
Partsch, 2001, Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens, Hum Reprod Update, 7, 292, 10.1093/humupd/7.3.292
Teilmann, 2005, Prevalence and incidence of precocious pubertal development in Denmark: an epidemiologic study based on national registries, Pediatrics, 116, 1323, 10.1542/peds.2005-0012
Lakshman, 2009, Early age at menarche associated with cardiovascular disease and mortality, J Clin Endocrinol Metab, 94, 4953, 10.1210/jc.2009-1789
Prentice, 2013, Pubertal timing and adult obesity and cardiometabolic risk in women and men: a systematic review and meta-analysis, Int J Obes (Lond), 37, 1036, 10.1038/ijo.2012.177
Ritte, 2013, Height, age at menarche and risk of hormone receptor-positive and -negative breast cancer: a cohort study, Int J Cancer, 132, 2619, 10.1002/ijc.27913
2012, Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies, Lancet Oncol, 13, 1141, 10.1016/S1470-2045(12)70425-4
Carel, 2009, Consensus statement on the use of gonadotropin-releasing hormone analogs in children, Pediatrics, 123, e752, 10.1542/peds.2008-1783
Xhrouet-Heinrichs, 1997, Longitudinal study of behavioral and affective patterns in girls with central precocious puberty during long-acting triptorelin therapy, Acta Paediatr, 86, 808, 10.1111/j.1651-2227.1997.tb08602.x
Carel, 2008, Precocious puberty, N Engl J Med, 358, 2366, 10.1056/NEJMcp0800459
Partsch, 2002, Management and outcome of central precocious puberty, Clin Endocrinol (Oxf), 56, 129, 10.1046/j.0300-0664.2001.01490.x
Stephen, 2011, Gonadotropin-dependent precocious puberty: neoplastic causes and endocrine considerations, Int J Pediatr Endocrinol, 2011, 184502, 10.1155/2011/184502
de Brito, 1999, Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot, Arch Dis Child, 80, 231, 10.1136/adc.80.3.231
Jung, 2002, Pathogenesis of precocious puberty in hypothalamic hamartoma, Horm Res, 57, 31
Cukier, 2013, The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty, Seizure, 22, 28, 10.1016/j.seizure.2012.09.013
Teilmann, 2006, Increased risk of precocious puberty in internationally adopted children in Denmark, Pediatrics, 118, e391, 10.1542/peds.2005-2939
Mouritsen, 2010, Hypothesis: exposure to endocrine-disrupting chemicals may interfere with timing of puberty, Int J Androl, 33, 346, 10.1111/j.1365-2605.2010.01051.x
Parent, 2015, Developmental variations in environmental influences including endocrine disruptors on pubertal timing and neuroendocrine control: revision of human observations and mechanistic insight from rodents, Front Neuroendocrinol, 38, 12, 10.1016/j.yfrne.2014.12.004
Rasier, 2008, Mechanisms of interaction of endocrine-disrupting chemicals with glutamate-evoked secretion of gonadotropin-releasing hormone, Toxicol Sci, 102, 33, 10.1093/toxsci/kfm285
Deng, 2012, Effects of growth environments and two environmental endocrine disruptors on children with idiopathic precocious puberty, Eur J Endocrinol, 166, 803, 10.1530/EJE-11-0876
Denham, 2005, Relationship of lead, mercury, mirex, dichlorodiphenyldichloroethylene, hexachlorobenzene, and polychlorinated biphenyls to timing of menarche among Akwesasne Mohawk girls, Pediatrics, 115, e127, 10.1542/peds.2004-1161
Ozen, 2012, Effects of pesticides used in agriculture on the development of precocious puberty, Environ Monit Assess, 184, 4223, 10.1007/s10661-011-2257-6
Brito, 2008, Update on the etiology, diagnosis and therapeutic management of sexual precocity, Arq Bras Endocrinol Metabol, 52, 18, 10.1590/S0004-27302008000100005
Kumar, 2015, Challenges and controversies in diagnosis and management of gonadotropin dependent precocious puberty: an Indian perspective, Indian J Endocrinol Metab, 19, 228, 10.4103/2230-8210.149316
Teles, 2008, A GPR54-activating mutation in a patient with central precocious puberty, N Engl J Med, 358, 709, 10.1056/NEJMoa073443
Silveira, 2010, Mutations of the KISS1 gene in disorders of puberty, J Clin Endocrinol Metab, 95, 2276, 10.1210/jc.2009-2421
Abreu, 2013, Central precocious puberty caused by mutations in the imprinted gene MKRN3, N Engl J Med, 368, 2467, 10.1056/NEJMoa1302160
Macedo, 2014, Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3, J Clin Endocrinol Metab, 99, E1097, 10.1210/jc.2013-3126
Settas, 2014, Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene, J Clin Endocrinol Metab, 99, E647, 10.1210/jc.2013-4084
Schreiner, 2014, MKRN3 mutations in familial central precocious puberty, Horm Res Paediatr, 82, 122, 10.1159/000362815
de Vries, 2014, A novel MKRN3 missense mutation causing familial precocious puberty, Hum Reprod, 29, 2838, 10.1093/humrep/deu256
Bulcao Macedo, 2014, New causes of central precocious puberty: the role of genetic factors, Neuroendocrinology, 100, 1, 10.1159/000366282
Neocleous, 2015, In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty, Clin Endocrinol (Oxf)
Lee, 2015, Low frequency of MKRN3 mutations in central precocious puberty among Korean girls, Horm Metab Res
Partsch, 2002, Central precocious puberty in girls with Williams syndrome, J Pediatr, 141, 441, 10.1067/mpd.2002.127280
Cisternino, 2013, Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm, Case Rep Genet, 2013, 978087
Hoffmann, 2011, Uniparental disomies 7 and 14, Best Pract Res Clin Endocrinol Metab, 25, 77, 10.1016/j.beem.2010.09.004
Grosso, 2001, Pubertal disorders in inv dup(15) syndrome, Gynecol Endocrinol, 15, 165, 10.1080/gye.15.3.165.169
Cassidy, 2012, Prader–Willi syndrome, Genet Med, 14, 10, 10.1038/gim.0b013e31822bead0
Saletti, 2009, A CDKL5 mutated child with precocious puberty, Am J Med Genet A, 149A, 1046, 10.1002/ajmg.a.32806
Brito, 1999, Diagnostic value of fluorometric assays in the evaluation of precocious puberty, J Clin Endocrinol Metab, 84, 3539
Neely, 1995, Normal ranges for immunochemiluminometric gonadotropin assays, J Pediatr, 127, 40, 10.1016/S0022-3476(95)70254-7
Houk, 2009, Adequacy of a single unstimulated luteinizing hormone level to diagnose central precocious puberty in girls, Pediatrics, 123, e1059, 10.1542/peds.2008-1180
Lee, 2013, Basal luteinizing hormone and follicular stimulating hormone: is it sufficient for the diagnosis of precocious puberty in girls?, Ann Pediatr Endocrinol Metab, 18, 196, 10.6065/apem.2013.18.4.196
Pasternak, 2012, The utility of basal serum LH in prediction of central precocious puberty in girls, Eur J Endocrinol, 166, 295, 10.1530/EJE-11-0720
Freire, 2013, High diagnostic accuracy of subcutaneous triptorelin test compared with GnRH test for diagnosing central precocious puberty in girls, Clin Endocrinol (Oxf), 78, 398, 10.1111/j.1365-2265.2012.04517.x
Cavallo, 1995, A simplified gonadotrophin-releasing hormone test for precocious puberty, Clin Endocrinol (Oxf), 42, 641, 10.1111/j.1365-2265.1995.tb02692.x
Lawson, 1999, A single sample subcutaneous luteinizing hormone (LH)-releasing hormone (LHRH) stimulation test for monitoring LH suppression in children with central precocious puberty receiving LHRH agonists, J Clin Endocrinol Metab, 84, 4536
Carretto, 2014, The usefulness of the leuprolide stimulation test as a diagnostic method of idiopathic central precocious puberty in girls, Horm Metab Res, 46, 959, 10.1055/s-0034-1387790
Ketha, 2014, Clinical applications of LC-MS sex steroid assays: evolution of methodologies in the 21st century, Curr Opin Endocrinol Diabetes Obes, 21, 217, 10.1097/MED.0000000000000068
Hagen, 2015, Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls, J Clin Endocrinol Metab, 100, 1920, 10.1210/jc.2014-4462
Brito, 2008, Factors determining normal adult height in girls with gonadotropin-dependent precocious puberty treated with depot gonadotropin-releasing hormone analogs, J Clin Endocrinol Metab, 93, 2662, 10.1210/jc.2007-2183
Carel, 2004, Precocious puberty and statural growth, Hum Reprod Update, 10, 135, 10.1093/humupd/dmh012
de Vries, 2011, Pelvic ultrasound examination in girls with precocious puberty is a useful adjunct in gonadotrophin-releasing hormone analogue therapy monitoring, Clin Endocrinol (Oxf), 75, 372, 10.1111/j.1365-2265.2011.04086.x
Sathasivam, 2011, Pelvic ultrasonography in the evaluation of central precocious puberty: comparison with leuprolide stimulation test, J Pediatr, 159, 490, 10.1016/j.jpeds.2011.02.032
Mogensen, 2012, Pathological and incidental findings on brain MRI in a single-center study of 229 consecutive girls with early or precocious puberty, PLoS One, 7, e29829, 10.1371/journal.pone.0029829
Pedicelli, 2014, Routine screening by brain magnetic resonance imaging is not indicated in every girl with onset of puberty between the ages of 6 and 8 years, J Clin Endocrinol Metab, 99, 4455, 10.1210/jc.2014-2702
de Vries, 2010, Premature thelarche: age at presentation affects clinical course but not clinical characteristics or risk to progress to precocious puberty, J Pediatr, 156, 466, 10.1016/j.jpeds.2009.09.071
Williams, 2012, Premature adrenarche, Arch Dis Child, 97, 250, 10.1136/archdischild-2011-300011
Léger, 2000, Do all girls with apparent idiopathic precocious puberty require gonadotropin-releasing hormone agonist treatment?, J Pediatr, 137, 819, 10.1067/mpd.2000.109201
Lazar, 2007, Growth pattern and final height after cessation of gonadotropin-suppressive therapy in girls with central sexual precocity, J Clin Endocrinol Metab, 92, 3483, 10.1210/jc.2007-0321
Lahlou, 2000, Pharmacokinetics and pharmacodynamics of GnRH agonists: clinical implications in pediatrics, J Pediatr Endocrinol Metab, 13, 723
Lewis, 2013, Random luteinizing hormone often remains pubertal in children treated with the histrelin implant for central precocious puberty, J Pediatr, 162, 562, 10.1016/j.jpeds.2012.08.038
Brito, 2004, A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girls, J Clin Endocrinol Metab, 89, 4338, 10.1210/jc.2003-031537
Bhatia, 2002, Serum luteinizing hormone rises within minutes after depot leuprolide injection: implications for monitoring therapy, Pediatrics, 109, E30, 10.1542/peds.109.2.e30
Badaru, 2006, Sequential comparisons of one-month and three-month depot leuprolide regimens in central precocious puberty, J Clin Endocrinol Metab, 91, 1862, 10.1210/jc.2005-1500
Carel, 1999, Final height after long-term treatment with triptorelin slow release for central precocious puberty: importance of statural growth after interruption of treatment, J Clin Endocrinol Metab, 84, 1973, 10.1210/jcem.84.6.5647
Heger, 2006, Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function, Mol Cell Endocrinol, 254–255, 217, 10.1016/j.mce.2006.04.012
Gillis, 2013, Time to menarche and final height after histrelin implant treatment for central precocious puberty, J Pediatr, 163, 532, 10.1016/j.jpeds.2013.01.021
Pasquino, 1999, Adult height in girls with central precocious puberty treated with gonadotropin-releasing hormone analogues and growth hormone, J Clin Endocrinol Metab, 84, 449, 10.1210/jcem.84.2.5431
Vottero, 2006, Final height in girls with central idiopathic precocious puberty treated with gonadotropin-releasing hormone analog and oxandrolone, J Clin Endocrinol Metab, 91, 1284, 10.1210/jc.2005-1693
Silverman, 2015, Long-term continuous suppression with once-yearly histrelin subcutaneous implants for the treatment of central precocious puberty: a final report of a phase 3 multicenter trial, J Clin Endocrinol Metab, 100, 2354, 10.1210/jc.2014-3031
Lewis, 2013, A single histrelin implant is effective for 2 years for treatment of central precocious puberty, J Pediatr, 163, 1214, 10.1016/j.jpeds.2013.05.033
Carel, 2002, Treatment of central precocious puberty by subcutaneous injections of leuprorelin 3-month depot (11·25 mg), J Clin Endocrinol Metab, 87, 4111, 10.1210/jc.2001-020243
Johnson, 2012, Sterile abscess formation associated with depot leuprorelin acetate therapy for central precocious puberty, J Paediatr Child Health, 48, E136, 10.1111/j.1440-1754.2011.02083.x
Lazar, 2014, Treated and untreated women with idiopathic precocious puberty: long-term follow-up and reproductive outcome between the third and fifth decades, Clin Endocrinol (Oxf), 80, 570, 10.1111/cen.12319
Castaño De La Mota, 2012, Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature, Neurologia, 27, 268, 10.1016/j.nrl.2011.12.008