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]

Establishing the diagnosis of FMPP is straightforward when a positive family history is present. [journals.lww.com]

• Camping

  The ED50 values of hormone-induced cAMP production were within the same range for wild-type and mutant receptors, but maximal hormone-induced cAMP production was relatively low for mutant receptors. [ncbi.nlm.nih.gov]

  McCune-Albright syndrome (MAS) involves the overactivity of the cyclic adenosine monophosphate (cAMP) signaling pathway. [emedicine.medscape.com]

  […] macroorchidism INTRODUCTION McCune-Albright syndrome (MAS) is a sporadic and rare disorder which arises from a post-zygotic gain-of-function mutation at codon 201 of the GNAS1 gene, leading to ligand-independent receptor activation and inappropriate cAMP [hormones.gr]

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

Deslorelin (4 μg/kg·day) treatment was initiated 2.6 ± 1.3 yr after beginning spironolactone and testolactone treatment. The growth rate normalized within 1 yr of starting treatment and remained normal during the next 5 yr of treatment ( P < 0.001). [academic.oup.com]

[…] puberty (testotoxicosis) with cyproterone acetate or ketoconazole. ( 18088394 ) Almeida M.Q....Latronico A.C. 2008 7 Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. ( 16939760 ) Kreher N.C....Hochberg Z. 2006 [malacards.org]

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]

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

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]

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]

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]

The etiologies of PPP can vary between boys and girls and include production of sex steroids by the gonad in an unregulated fashion, such as in McCune-Albright syndrome (MAS) or familial male-limited precocious puberty (FMPP); sex steroid secretion by [emedicine.medscape.com]

Therefore, isolated virilization in females suggests a peripheral etiology, and excludes GDPP. [oncohemakey.com]

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]

(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]

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]

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]