, Volume 17, Issue 2, pp 275–278 | Cite as

Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring

  • Yılmaz KorEmail author
Case Report


Familial testotoxicosis is a disease with autosomal dominant inheritance that only affects men and which causes gonadotropin-independent precocious puberty. Although basal levels of luteinizing hormone and follicle-stimulating hormone are low, similar to what is expected in the pre-pubertal period, testosterone levels are high. Bicalutamide as an anti-androgen medication and anastrozole as an aromatase inhibitor have been proposed as agents that can be safely used in children. In the present study, we present the case of coexistent familial testotoxicosis and central precocious puberty induced by long-term androgen exposure in a patient aged 7.5 years, whose clinical symptoms started at the age of 4 years. Along with our experience with the effects of long-term (3 years) anastrozole plus bicalutamide treatment in this case, we discuss the relevant literature.


Familial testotoxicosis Anastrazole Bicalutamide 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Patient consent

Written informed consent was obtained from the patient.


  1. 1.
    Holland FJ (1991) Gonadotropin-independent precocious puberty. Endocrinol Metab Clin N Am 20:191–210CrossRefGoogle Scholar
  2. 2.
    Schedewie HK, Reiter EO, Beitins IZ, Seyed S, Wooten VD, Jimenez JF et al (1981) Testicular Leydig cell hyperplasia as a cause of familial sexual precosity. J Clin Endocrinol Metab 52:271–278CrossRefPubMedGoogle Scholar
  3. 3.
    Shenker A, Laue L, Kosugi S, Merendino JJ, Minegishi T, Cutler GB (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365:652–654CrossRefPubMedGoogle Scholar
  4. 4.
    Almeida MQ, Brito VN, Lins TS, Guerra-Junior G, de Castro M, Antonini SR et al (2008) Long-term treatment of familial male limited precocious puberty (testotoxicosis) with cyproteroneacetate or ketoconazole. Clin Endocrinol 69:93–98CrossRefGoogle Scholar
  5. 5.
    Holland FJ, Fishman L, Bailey JD, Fazekas AT (1985) Ketoconazole in the management of precocious puberty not responsive to LHRH-analogue therapy. N Engl J Med 312:1023–1028CrossRefPubMedGoogle Scholar
  6. 6.
    Soriano-Guillen L, Lahlou N, Chauvet G, Roger M, Chaussain JL, Carel JC (2005) Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty. J Clin Endocrinol Metab 90:147–151CrossRefPubMedGoogle Scholar
  7. 7.
    Rosenthal SM, Grumbach MM, Kaplan SL (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 medroxy progesterone acetate therapy in four cases. J Clin Endocrinol Metab 57:571–579CrossRefPubMedGoogle Scholar
  8. 8.
    Itoh K, Nakada T, Kubota Y, Suzuki H, Ishigooka M, Izumi T (1996) Testotoxicosis proved by immunohistochemical analysis and successfully treated with cyproterone acetate. Urol Int 57:199–202CrossRefPubMedGoogle Scholar
  9. 9.
    Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z (2006) Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. J Pediatr 149:416–420CrossRefPubMedGoogle Scholar
  10. 10.
    Reiter EO, Mauras N, McCormick K, Kulshreshtha B, Arnrhein J, De Luca F et al (2010) Bicalutamide plus anastrozole for theTreatment of gonadotropin-independent precocious puberty in boys with testotoxicosis: a phase II, open-label pilot study (BATT). J Pediatr Endocrinol Metab 23:999–1009CrossRefPubMedGoogle Scholar
  11. 11.
    Teles M, Brito VN, Arnhold IJ, Mendonca BB, Latronico AC (2006) Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. J Pediatr Endocrinol Metab 19:541–544PubMedGoogle Scholar
  12. 12.
    Ozcabı B, Tahmiscioğlu Bucak F, Ceylaner S, Rahşan O, Buyukunal C, Ercan O et al (2015) Testotoxicosis: report of two cases, one with a novel mutation in LHCGR gene. J Clin Res Pediatr Endocrinol 7:242–248CrossRefPubMedPubMedCentralGoogle Scholar
  13. 13.
    Nagasaki K, Katsumata N, Ogawa Y, Kikuchi T, Uchiyama M (2010) Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/chorio gonadotropin receptor in a Japanese boy with peripheral precocious puberty. Endocr J 57:1055–1060CrossRefPubMedGoogle Scholar
  14. 14.
    Laue L, Jones J, Barnes KM, Cutler GB (1993) Treatment of familial male precocious puberty with spironolactone, testolactone, and deslorelin. J Clin Endocrinol Metab 76:151–155PubMedGoogle Scholar
  15. 15.
    Leschek EW, Jones J, Barnes KM, Hill SC, Cutler GB (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 84:175–178CrossRefPubMedGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2018

Authors and Affiliations

  1. 1.Pediatric Endocrinology DivisionAdana City Training Research HospitalAdanaTurkey
  2. 2.Adana Şehir Eğitim Araştırma Hastanesi Çocuk Endokrinoloji BölümüAdanaTurkey

Personalised recommendations