Peripheral precocious puberty including congenital adrenal hyperplasia: causes, consequences, management and outcomes

Levine, 2000, Congenital adrenal hyperplasia, Pediatr Rev, 21, 159, 10.1542/pir.21.5.159

Speiser, 2018, Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline, J Clin Endocrinol Metab, 103, 4043, 10.1210/jc.2018-01865

Merke, 2005, Congenital adrenal hyperplasia, Lancet, 365, 2125, 10.1016/S0140-6736(05)66736-0

White, 1985, Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man, Proc Natl Acad Sci U S A, 82, 1089, 10.1073/pnas.82.4.1089

White, 1986, Structure of human steroid 21-hydroxylase genes, Proc Natl Acad Sci U S A, 83, 5111, 10.1073/pnas.83.14.5111

White, 2000, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Endocr Rev, 21, 245

Eugster, 2001, Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis, J Pediatr, 138, 26, 10.1067/mpd.2001.110527

Pescovitz, 1984, True precocious puberty complicating congenital adrenal hyperplasia: treatment with a luteinizing hormone-releasing hormone analog, J Clin Endocrinol Metab, 58, 857, 10.1210/jcem-58-5-857

Azziz, 2004, The prevalence and features of the polycystic ovary syndrome in an unselected population, J Clin Endocrinol Metab, 89, 2745, 10.1210/jc.2003-032046

Chrousos, 1982, Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease, Ann Intern Med, 96, 143, 10.7326/0003-4819-96-2-143

Lekarev, 2015, Infertility and reproductive function in patients with congenital adrenal hyperplasia: pathophysiology, advances in management, and recent outcomes, Endocrinol Metab Clin N Am, 44, 705, 10.1016/j.ecl.2015.07.009

Falhammar, 2012, Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia, Eur J Endocrinol, 166, 441, 10.1530/EJE-11-0828

Chaudhari, 2018, Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia, J Pediatr Urol, 14, 155 e1, 10.1016/j.jpurol.2017.11.011

Smeets, 2015, Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features, J Clin Endocrinol Metab, 100, E524, 10.1210/jc.2014-2036

Levine LS, 2007

Nebesio, 2016, Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia, Int J Pediatr Endocrinol, 2016, 17, 10.1186/s13633-016-0035-5

Leslie, 2009, Feminizing genital reconstruction in congenital adrenal hyperplasia, Indian J Urol: IJU: journal of the Urological Society of India, 25, 17, 10.4103/0970-1591.45532

Sturm, 2015, Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States, J Urol, 193, 1796

Berenbaum, 2003, Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia, J Clin Endocrinol Metab, 88, 1102, 10.1210/jc.2002-020782

Dacou-Voutetakis, 1993, Congenital adrenal hyperplasia complicated by central precocious puberty: treatment with LHRH-agonist analogue, Ann N Y Acad Sci, 687, 250, 10.1111/j.1749-6632.1993.tb43873.x

Guven, 2015, Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precocious puberty, Hormones (Basel), 14, 265

Lin-Su, 2005, Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia, J Clin Endocrinol Metab, 90, 3318, 10.1210/jc.2004-2128

Lin-Su, 2011, Final adult height in children with congenital adrenal hyperplasia treated with growth hormone, J Clin Endocrinol Metab, 96, 1710, 10.1210/jc.2010-2699

Weinstein, 1991, Activating mutations of the stimulatory G protein in the McCune-Albright syndrome, N Engl J Med, 325, 1688, 10.1056/NEJM199112123252403

Shenker, 1993, Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS, J Pediatr, 123, 509, 10.1016/S0022-3476(05)80943-6

Haddad, 2007, An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis, J Pediatr Endocrinol Metab JPEM J Pediatr Endocrinol Metab, 20, 653

Casey, 2015, Implications for the future of pediatric and adolescent girls with McCune-Albright syndrome: long term obstetrical and gynecologic Outcomes, Oral Abstracts J Pediatr Adolesc Gynecol, 28, e32, 10.1016/j.jpag.2015.02.007

Boyce, 2012, Characterization and management of testicular pathology in McCune-Albright syndrome, J Clin Endocrinol Metab, 97, E1782, 10.1210/jc.2012-1791

Coutant, 2001, Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy, J Clin Endocrinol Metab, 86, 1778

Wasniewska, 2004, Testicular microlithiasis: an unreported feature of McCune-Albright syndrome in males, J Pediatr, 145, 670, 10.1016/j.jpeds.2004.06.083

Nabhan, 2007, Oophorectomy in McCune-Albright syndrome: a case of mistaken identity, J Pediatr Surg, 42, 1578, 10.1016/j.jpedsurg.2007.04.021

Syed, 1999, Ketoconazole treatment of gonadotropin independent precocious puberty in girls with McCune-Albright syndrome: a preliminary report, J Pediatr Endocrinol Metab JPEM (J Pediatr Endocrinol Metab), 12, 81

Vermeer, 2016, Evaluation of ketoconazole and its alternative clinical CYP3a4/5 inhibitors as inhibitors of drug transporters: the in vitro effects of ketoconazole, ritonavir, clarithromycin, and itraconazole on 13 clinically-relevant drug transporters, Drug Metab Dispos Biological Fate Chem, 44, 453, 10.1124/dmd.115.067744

Nunez, 2003, Lack of efficacy of fadrozole in treating precocious puberty in girls with the McCune-Albright syndrome, J Clin Endocrinol Metab, 88, 5730, 10.1210/jc.2003-030864

Feuillan, 1993, Long-term testolactone therapy for precocious puberty in girls with the McCune-Albright syndrome, J Clin Endocrinol Metab, 77, 647

Mieszczak, 2008, The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome, J Clin Endocrinol Metab, 93, 2751, 10.1210/jc.2007-2090

Estrada, 2016, Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome, Eur J Endocrinol, 175, 477, 10.1530/EJE-16-0526

Feuillan, 2007, Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study, J Clin Endocrinol Metab, 92, 2100, 10.1210/jc.2006-2350

Eugster, 2003, Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial, J Pediatr, 143, 60, 10.1016/S0022-3476(03)00128-8

de GBPC, 2015, Tamoxifen improves final height prediction in girls with McCune-Albright syndrome: a long follow-up, Hormone Res Paediatrics, 84, 184, 10.1159/000435881

Sims, 2012, Fulvestrant treatment of precocious puberty in girls with McCune-Albright syndrome, Int J Pediatr Endocrinol, 2012, 26, 10.1186/1687-9856-2012-26

Tessaris, 2012, Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome, Endocr J, 59, 111, 10.1507/endocrj.EJ11-0214

Rousseau-Merck, 1990, Localization of the human luteinizing hormone/choriogonadotropin receptor gene (LHCGR) to chromosome 2p21, Cytogenet Cell Genet, 54, 77, 10.1159/000132962

Shenker, 1993, A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty, Nature, 365, 652, 10.1038/365652a0

Nabhan, 2018

Holland, 1987, Gonadotropin-independent precocious puberty ("testotoxicosis"): influence of maturational status on response to ketoconazole, J Clin Endocrinol Metab, 64, 328, 10.1210/jcem-64-2-328

Reiter, 1984, Male-limited familial precocious puberty in three generations. Apparent Leydig-cell autonomy and elevated glycoprotein hormone alpha subunit, N Engl J Med, 311, 515, 10.1056/NEJM198408233110807

Bertelloni, 1997, Long-term outcome of male-limited gonadotropin-independent precocious puberty, Horm Res, 48, 235, 10.1159/000185521

Egli, 1985, Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis, J Pediatr, 106, 33, 10.1016/S0022-3476(85)80460-1

Martin, 1998, Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor, Eur J Endocrinol, 139, 101, 10.1530/eje.0.1390101

Leschek, 2001, Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty, J Pediatr, 138, 949, 10.1067/mpd.2001.114477

Almeida, 2008, Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole, Clin Endocrinol, 69, 93, 10.1111/j.1365-2265.2007.03160.x

Babovic-Vuksanovic, 1994, Hazards of ketoconazole therapy in testotoxicosis, Acta Paediatr, 83, 994, 10.1111/j.1651-2227.1994.tb13192.x

Leschek, 2017, Effect of antiandrogen, aromatase inhibitor, and gonadotropin-releasing hormone analog on adult height in familial male precocious puberty, J Pediatr, 190, 229, 10.1016/j.jpeds.2017.07.047

Kreher, 2006, Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole, J Pediatr, 149, 416, 10.1016/j.jpeds.2006.04.027

Reiter, 2010, Bicalutamide plus anastrozole for the treatment of gonadotropin-independent precocious puberty in boys with testotoxicosis: a phase II, open-label pilot study (BATT), J Pediatr Endocrinol Metab : JPEM (J Pediatr Endocrinol Metab), 23, 999, 10.1515/jpem.2010.161

Lenz, 2010, Bicalutamide and third-generation aromatase inhibitors in testotoxicosis, Pediatrics, 126, e728, 10.1542/peds.2010-0596

Schneider, 2005, Ovarian sex cord-stromal tumors in children and adolescents, J Reprod Med, 50, 439

Breen, 1977, Ovarian tumors in children and adolescents, Clinical Obstetrics Gynecol, 20, 607, 10.1097/00003081-197709000-00010

Olivier, 2012, Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls, J Pediatr, 161, 1147, 10.1016/j.jpeds.2012.05.039

Johnstone, 1967, Prepubertal gynaecomastia in association with an interstitial-cell tumour of the testis, Br J Urol, 39, 211, 10.1111/j.1464-410X.1967.tb09800.x

Cheville, 1998, Leydig cell tumor of the testis: a clinicopathologic, DNA content, and MIB-1 comparison of nonmetastasizing and metastasizing tumors, Am J Surg Pathol, 22, 1361, 10.1097/00000478-199811000-00006

Young, 1995, Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome, Am J Surg Pathol, 19, 50, 10.1097/00000478-199501000-00007

Hemminki, 1999, The molecular basis and clinical aspects of Peutz-Jeghers syndrome, Cell Mol Life Sci CMLS, 55, 735, 10.1007/s000180050329

Aguirre, 2006, Extragonadal germ cell tumors are often associated with Klinefelter syndrome, Hum Pathol, 37, 477, 10.1016/j.humpath.2006.01.029

Malkin, 1990, Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms, Science, 250, 1233, 10.1126/science.1978757

Ribeiro, 2001, An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma, Proc Natl Acad Sci U S A, 98, 9330, 10.1073/pnas.161479898

Medeiros, 1992, New developments in the pathologic diagnosis of adrenal cortical neoplasms. A review, Am J Clin Pathol, 97, 73, 10.1093/ajcp/97.1.73

Michalkiewicz, 2004, Clinical and outcome characteristics of children with adrenocortical tumors: a report from the International Pediatric Adrenocortical Tumor Registry, J Clin Oncol Official J Am Soc Clinical Oncol, 22, 838, 10.1200/JCO.2004.08.085

Mayer, 1997, Childhood adrenocortical tumors: case series and reevaluation of prognosis--a 24-year experience, J Pediatr Surg, 32, 911, 10.1016/S0022-3468(97)90649-7

Carani, 1988, Effects of cyproterone acetate, LHRH agonist and ovarian surgery in McCune-Albright syndrome with precocious puberty and galactorrhea, J Endocrinol Investig, 11, 419, 10.1007/BF03349073

Sorgo, 1987, The effects of cyproterone acetate on statural growth in children with precocious puberty, Acta Endocrinol, 115, 44

Rao, 2003, McCune Albright Syndrome (MCAS): a case series, Indian Pediatr, 40, 29

Rosenthal, 1983, Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases, J Clin Endocrinol Metab, 57, 571, 10.1210/jcem-57-3-571

Soriano-Guillen, 2005, Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty, J Clin Endocrinol Metab, 90, 147, 10.1210/jc.2004-1438

Leschek, 1999, Six-year results of spironolactone and testolactone treatment of familial male-limited precocious puberty with addition of deslorelin after central puberty onset, J Clin Endocrinol Metab, 84, 175, 10.1210/jcem.84.1.5413