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Familial Male-Limited Precocious Puberty

FMPP


Presentation

  • 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]
Osteoporosis
  • Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus.[books.google.com]
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]
Sexual Dysfunction
  • Discussions on the current methods for the diagnosis and treatment of male hypogonadism, male infertility and male sexual dysfunction follow, with detailed descriptions of types of androgen replacement and the benefits and risks of such treatment.[books.google.com]

Workup

Hyponatremia
  • Patients and parents were instructed to withhold medications during gastrointestinal illnesses to prevent hyponatremia.[academic.oup.com]

Treatment

  • 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 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

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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