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Familial Male Precocious Puberty

MedGen UID:
881406
•Concept ID:
C4055017
•
Finding

Definition

Early development of isosexual secondary characteristics in boys, due to autosomal dominant mutations in the LHCGR gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Male Precocious Puberty

Professional guidelines

PubMed

Treatment of familial male precocious puberty with spironolactone and testolactone.
Laue L, Kenigsberg D, Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB Jr
N Engl J Med 1989 Feb 23;320(8):496-502. doi: 10.1056/NEJM198902233200805. PMID: 2492636

Recent clinical studies

Etiology

Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin-releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty.
Leschek EW, Flor AC, Bryant JC, Jones JV, Barnes KM, Cutler GB Jr
J Pediatr 2017 Nov;190:229-235. doi: 10.1016/j.jpeds.2017.07.047. PMID: 29144249Free PMC Article
Grey matter volume correlates with virtual water maze task performance in boys with androgen excess.
Mueller SC, Merke DP, Leschek EW, Fromm S, Grillon C, Cornwell BR, Vanryzin C, Ernst M
Neuroscience 2011 Dec 1;197:225-32. Epub 2011 Sep 21 doi: 10.1016/j.neuroscience.2011.09.022. PMID: 21964472Free PMC Article
Use of aromatase inhibitors in precocious puberty.
Feuillan P, Merke D, Leschek EW, Cutler GB Jr
Endocr Relat Cancer 1999 Jun;6(2):303-6. doi: 10.1677/erc.0.0060303. PMID: 10731123
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448
Treatment of familial male precocious puberty with spironolactone, testolactone, and deslorelin.
Laue L, Jones J, Barnes KM, Cutler GB Jr
J Clin Endocrinol Metab 1993 Jan;76(1):151-5. doi: 10.1210/jcem.76.1.8421081. PMID: 8421081

Diagnosis

Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty.
Finkle A, Zavertnik S, Myers S, Cormier D, Heithaus J, Augustyn M
J Dev Behav Pediatr 2020 Dec;41(9):740-742. doi: 10.1097/DBP.0000000000000865. PMID: 33214411
Psychiatric characterization of children with genetic causes of hyperandrogenism.
Mueller SC, Ng P, Sinaii N, Leschek EW, Green-Golan L, VanRyzin C, Ernst M, Merke DP
Eur J Endocrinol 2010 Nov;163(5):801-10. Epub 2010 Aug 31 doi: 10.1530/EJE-10-0693. PMID: 20807778Free PMC Article
Rodent Leydig cell tumorigenesis: a review of the physiology, pathology, mechanisms, and relevance to humans.
Cook JC, Klinefelter GR, Hardisty JF, Sharpe RM, Foster PM
Crit Rev Toxicol 1999 Mar;29(2):169-261. doi: 10.1080/10408449991349203. PMID: 10213111
Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease.
Spiegel AM
J Inherit Metab Dis 1997 Jun;20(2):113-21. doi: 10.1023/a:1005393501786. PMID: 9211183
The NIH experience with precocious puberty: diagnostic subgroups and response to short-term luteinizing hormone releasing hormone analogue therapy.
Pescovitz OH, Comite F, Hench K, Barnes K, McNemar A, Foster C, Kenigsberg D, Loriaux DL, Cutler GB Jr
J Pediatr 1986 Jan;108(1):47-54. doi: 10.1016/s0022-3476(86)80767-3. PMID: 3080571

Therapy

Aromatase inhibitors in precocious puberty: rationale and experience to date.
Eugster EA
Treat Endocrinol 2004;3(3):141-51. doi: 10.2165/00024677-200403030-00002. PMID: 16026110
Use of aromatase inhibitors in precocious puberty.
Feuillan P, Merke D, Leschek EW, Cutler GB Jr
Endocr Relat Cancer 1999 Jun;6(2):303-6. doi: 10.1677/erc.0.0060303. PMID: 10731123
Familial male precocious puberty.
Leschek EW, Cutler GB Jr
Curr Ther Endocrinol Metab 1997;6:343-5. PMID: 9174766
Familial male precocious puberty.
Laue L, Cutler GB Jr
Curr Ther Endocrinol Metab 1994;5:296-9. PMID: 7704737
Treatment of familial male precocious puberty with spironolactone, testolactone, and deslorelin.
Laue L, Jones J, Barnes KM, Cutler GB Jr
J Clin Endocrinol Metab 1993 Jan;76(1):151-5. doi: 10.1210/jcem.76.1.8421081. PMID: 8421081

Prognosis

Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin-releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty.
Leschek EW, Flor AC, Bryant JC, Jones JV, Barnes KM, Cutler GB Jr
J Pediatr 2017 Nov;190:229-235. doi: 10.1016/j.jpeds.2017.07.047. PMID: 29144249Free PMC Article
Use of aromatase inhibitors in precocious puberty.
Feuillan P, Merke D, Leschek EW, Cutler GB Jr
Endocr Relat Cancer 1999 Jun;6(2):303-6. doi: 10.1677/erc.0.0060303. PMID: 10731123
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448
Treatment of familial male precocious puberty with spironolactone, testolactone, and deslorelin.
Laue L, Jones J, Barnes KM, Cutler GB Jr
J Clin Endocrinol Metab 1993 Jan;76(1):151-5. doi: 10.1210/jcem.76.1.8421081. PMID: 8421081
Treatment of familial male precocious puberty with spironolactone and testolactone.
Laue L, Kenigsberg D, Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB Jr
N Engl J Med 1989 Feb 23;320(8):496-502. doi: 10.1056/NEJM198902233200805. PMID: 2492636

Clinical prediction guides

Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty.
Finkle A, Zavertnik S, Myers S, Cormier D, Heithaus J, Augustyn M
J Dev Behav Pediatr 2020 Dec;41(9):740-742. doi: 10.1097/DBP.0000000000000865. PMID: 33214411
Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin-releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty.
Leschek EW, Flor AC, Bryant JC, Jones JV, Barnes KM, Cutler GB Jr
J Pediatr 2017 Nov;190:229-235. doi: 10.1016/j.jpeds.2017.07.047. PMID: 29144249Free PMC Article
Use of aromatase inhibitors in precocious puberty.
Feuillan P, Merke D, Leschek EW, Cutler GB Jr
Endocr Relat Cancer 1999 Jun;6(2):303-6. doi: 10.1677/erc.0.0060303. PMID: 10731123
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448
Treatment of familial male precocious puberty with spironolactone and testolactone.
Laue L, Kenigsberg D, Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB Jr
N Engl J Med 1989 Feb 23;320(8):496-502. doi: 10.1056/NEJM198902233200805. PMID: 2492636

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