Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 10, 2008, Pages 995-1002

  Eyssette Guerreau, Stéphanie ^a   Pinto, Graziella ^a   Sultan, Ariane ^b   Le Merrer, Martine ^a   Sultan, Charles ^b   Polak, Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b LAPEYRONIE HOSPITAL   (France)

Author keywords

Anastrozole; Cyproterone acetate; Precocious puberty; Testotoxicosis

Indexed keywords

ANASTROZOLE; CYPROTERONE ACETATE; KETOCONAZOLE; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

ARTICLE; BONE MATURATION; CASE REPORT; CHILD; CHONDRODYSPLASIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DRUG EFFICACY; DRUG SUBSTITUTION; DRUG TOLERABILITY; DRUG WITHDRAWAL; GENE MUTATION; GROWTH RATE; HUMAN; MALE; PRECOCIOUS PUBERTY; TESTOSTERONE BLOOD LEVEL; TESTOTOXICOSIS; TREATMENT FAILURE;

EID: 57649218722     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.10.995     Document Type: Article

References (22)

1. Rosenthal SM, Grumbach MM, Kaplan SL. 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 1983; 57: 571-579.
2. Laue L, Jones J, Barnes KM, Cutler GB Jr. Treatment of familial male precocious puberty with spironolactone, testolactone, and deslorelin. J Clin Endocrinol Metab 1993; 76: 151-155.
3. 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.
4. Shenker 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.
5. Mauras N, O'Brien KO, Klein KO, Hayes V. Estrogen suppression in males: metabolic effects. J Clin Endocrinol Metab 2000; 85: 2370-2377.
6. Jacobsen AW, Macklin MT. Hereditary sexual precocity; report of a family with 27 affected members. Pediatrics 1952; 9: 682-695.
7. Beas F, Zurbugg RP, Leibow SG, Patton RG, Gardner LI. Familial male sexual precocity: report of the eleventh kindred found, with observations on blood group linkage and urinary C 19-steroid excretion. J Clin Endocrinol Metab 1962; 22: 1095-1102.
8. Makitie O, Perheentupa J, Kaitila I. Growth in cartilage-hair hypoplasia. Pediatr Res 1992; 31: 176-180.
9. Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel JC, Chaussain JL, Mori T, Merendino JJ Jr, Shenker 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.
10. Cocco S, Meloni A, Marini MG, Cao A, Moi P. A missense (T5771) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. Hum Mutat 1996; 7: 164-166.
11. Latronico AC, Shinozaki H, Guerra G Jr, Pereira MA, Lemos Marini SH, Baptista MT, Arnhold IJ, Fanelli F, Mendonca BB, Segaloff DL. Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. J Clin Endocrinol Metab 2000; 85: 4799-4805.
12. Teles M, Brito VN, Arnhold IJ, Mendonca BB, Latronico AC. Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. J Pediatr Endocrinol Metab 2006; 19: 541-544.
13. Evans BA, Bowen DJ, Smith PJ, Clayton PE, Gregory JW. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. J Med Genet 1996; 33: 143-147,
14. 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.
15. Clark PA, Clarke WL. Testotoxicosis. An unusual presentation and novel gene mutation. Clin Pediatr (Phila) 1995; 34: 271-274.
16. Muller J, Gondos B, Kosugi S, Mori T, Shenker A. Severe testotoxicosis phenotype associated with Asp578→Tyr mutation of the lutrophin/ choriogonadotrophin receptor gene. J Med Genet 1998; 35: 340-341.
17. Kremer H, Martens JW, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SL, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JM, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman EC, Themmen AP, Brunner HG. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. J Clin Endocrinol Metab 1999; 84: 1136-1140.
18. Ignacak M, Hilczer M, Zarzycki J, Trzeciak WH. Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty. Endocr J 2000; 47: 595-599.
19. Soriano-Guillen L, Lahlou N, Chauvet G, Roger M, Chaussain JL, Carel JC. Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty. J Clin Endocrinol Metab 2005; 90: 147-151.
20. Laue L, Kenigsberg 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.
21. Leschek EW, Jones J, Barnes KM, Hill SC, Cutler GB Jr. Six-year results of spironolaetone and testolactone treatment of familial male-limited precocious puberty with addition of deslorelin alter central puberty onset. J Clin Endocrinol Metab 1999; 84: 175-178.
22. Lonning P. Clinical pharmacokinetics of aromatase inhibitors and inactivators. Clin Pharmacokinet 2003; 42: 619-631.