We describe one patient with NF-1 who presented with precocious puberty with the eventual diagnosis of familial male-limited precocious puberty and share the potential pitfalls. [ncbi.nlm.nih.gov]

Clinical description FMPP presents in boys from 2-5 years of age with precocious signs of puberty including growth acceleration, penile enlargement, acne, pubic hair and facial hair. [orpha.net]

• Hyperactivity

  An increased risk of attention-deficit hyperactivity disorder (ADHD) has been observed. [orpha.net]

  They may exhibit increased aggressiveness and hyperactivity. Male-limited precocious puberty (familial testotoxicosis) is considered hereditary. [healthcentral.com]

Deslorelin (4 microg/kg x day) treatment was initiated 2.6 /- 1.3 yr after beginning spironolactone and testolactone treatment. [ncbi.nlm.nih.gov]

Management and treatment Treatment consists in reducing hyperandrogenism in children (sexual maturation, stature). Two options have been proposed. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis Prognosis is good; with treatment most patients reach an appropriate adult height. The disease does not seem to have any consequence during adulthood but this is based on limited clinical reports. [orpha.net]

Prognosis - Testotoxicosis Treatment - Testotoxicosis Resources - Testotoxicosis Not supplied. [checkorphan.org]

In general, prognosis is excellent with proper treatment. [3] Last updated: 2/29/2012 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

The prognosis otherwise depends on the underlying cause [patient.info]

Etiology FMPP is caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene ( LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinizing hormone. [orpha.net]

In the absence of a positive family history, mutation analysis of the LH receptor can be performed once other etiologies of precocious puberty have been excluded. There are 2 primary treatment approaches to FMPP. [journals.lww.com]

Update on the etiology, diagnosis and therapeutic management of sexual precocity. Arq Bras Endocrinol Metabol. 2008; . Accessed 2/29/2012. Ferry RJ, Fenton CL, Poth MPM. Precocious Pseudopuberty. eMedicine. 2009; . Accessed 2/29/2012. Carel JC. [rarediseases.info.nih.gov]

Update on the etiology, diagnosis and therapeutic management of sexual precocity. Arq Bras Endocrinol Metabol. 2008 Feb;52(1):18-31. Review. Erratum in: Arq Bras Endocrinol Metabol. 2008 Apr;52(3):576. Chan WY. [ghr.nlm.nih.gov]

Summary Epidemiology FMPP is a very rare condition; prevalence is less than 1/1,000,000. [orpha.net]

Relevant External Links for LHCGR Genetic Association Database (GAD) LHCGR Human Genome Epidemiology (HuGE) Navigator LHCGR Atlas of Genetics and Cytogenetics in Oncology and Haematology: LHCGR No data available for Genatlas for LHCGR Gene Luteinizing [genecards.org]

Predictors of survival in pediatric adrenocortical carcinoma: a Surveillance, Epidemiology, and End Results (SEER) program study. J Pediatr Surg. 2013; 48:1025–1031. PMID: 23701777. [ CrossRef ] [ Google Scholar ] 24. [e-sciencecentral.org]

Epidemiology True precocious puberty is thought to have a prevalence of 1 in 5,000 to 1 in 10,000. [patient.info]

Pubertal growth: physiology and pathophysiology. Recent Prog Horm Res 1986;42:443–470. PubMed Google Scholar 67. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. [link.springer.com]

(REVIEW) PMID 20374734 Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Themmen APN, Huhtaniemi IT. Endocr Rev. 2000 Oct;21(5):551-83. [atlasgeneticsoncology.org]

Recent advances have enhanced the understanding of pathophysiology and epidemiology of precocious puberty and have translated into improved management. [ijem.in]

Symptoms - Testotoxicosis Prevention - Testotoxicosis Not supplied. [checkorphan.org]

The goal of the treatment is to delay sexual development until a more appropriate age and prevent short adult stature (height). [clinicaltrials.gov]

Eating extra calories and being heavy during the early years brings on the start of menstruation, which stops growth and prevents a girl from continuing to grow. [drmirkin.com]

Korea Centers for Disease Control and Prevention, Division of Chronic Disease Surveillance, Committee for the Development of Growth Standard for Korean Children and Adolescents. [e-sciencecentral.org]

The prognosis is generally good with appropriate treatment Please find comprehensive information on Precocious Puberty regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]