Skip to main content

Advertisement

SpringerLink
Log in

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

  • Case Report
  • Published:
Hormones Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Holland FJ (1991) Gonadotropin-independent precocious puberty. Endocrinol Metab Clin N Am 20:191–210

    Article  CAS  Google Scholar 

  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 52:271–278

    Article  PubMed  CAS  Google Scholar 

  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 365:652–654

    Article  PubMed  CAS  Google Scholar 

  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 69:93–98

    Article  CAS  Google Scholar 

  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 312:1023–1028

    Article  PubMed  CAS  Google Scholar 

  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 90:147–151

    Article  PubMed  CAS  Google Scholar 

  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 57:571–579

    Article  PubMed  CAS  Google Scholar 

  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 57:199–202

    Article  PubMed  CAS  Google Scholar 

  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 149:416–420

    Article  PubMed  CAS  Google Scholar 

  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 23:999–1009

    Article  PubMed  CAS  Google Scholar 

  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 19:541–544

    PubMed  Google Scholar 

  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 7:242–248

    Article  PubMed  PubMed Central  Google Scholar 

  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 57:1055–1060

    Article  PubMed  CAS  Google Scholar 

  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 76:151–155

    PubMed  CAS  Google Scholar 

  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 84:175–178

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Author notes

  1. Yılmaz Kor

    Present address: Pediatric Endocrinology Division, Adana City Training Research Hospital, Adana, Turkey

Authors and Affiliations

  1. Adana Şehir Eğitim Araştırma Hastanesi Çocuk Endokrinoloji Bölümü, Adana, Turkey

    Yılmaz Kor

Authors
  1. Yılmaz Kor
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yılmaz Kor.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Patient consent

Written informed consent was obtained from the patient.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kor, Y. Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring. Hormones 17, 275–278 (2018). https://doi.org/10.1007/s42000-018-0029-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s42000-018-0029-1

Keywords

Search

Navigation