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Familial male-limited precocious puberty in neurofibromatosis type I.

AbstractUNLABELLED:
Precocious puberty in patients with neurofibromatosis type 1 (NF-1) is predominantly central in origin, with intracranial pathologies like optic glioma. 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. He presented at 7 years of age with growth spurt and pubertal genitalia development with enlarged testicular volume of 7 mL, but LHRH stimulation test revealed blunted luteinizing hormone and follicle-stimulating hormone peak suggestive of a peripheral cause, contrary to the expectation due to the background of NF-1. Testosterone level was elevated with bone age advancement by 2 years. Genetic analysis revealed a previously reported heterozygous missense mutation of the luteinizing hormone/choriogonadotropin receptor gene Ala572Val. His father was also heterozygous for the same mutation but was apparently asymptomatic and not short.
CONCLUSION:
Our report illustrates two potential pitfalls in the clinical evaluation of patients with familial male-limited precocious puberty (FMPP). Firstly, patients with FMPP will have mild to moderately enlarged testes and should not be wrongly diagnosed as central precocious puberty without the gonadotropin-releasing hormone stimulation test. Secondly, family members with the same mutation may have different phenotypic severities, where some male carriers may have subtle features.
AuthorsYvonne Yijuan Lim, Raymond Ming-En Chan, Kah Yin Loke, Cindy Weili Ho, Yung Seng Lee
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 173 Issue 2 Pg. 219-22 (Feb 2014) ISSN: 1432-1076 [Electronic] Germany
PMID23982246 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Receptors, LH
  • Gonadotropin-Releasing Hormone
  • Testosterone
  • Follicle Stimulating Hormone
Topics
  • Age Determination by Skeleton
  • Child
  • Diagnosis, Differential
  • Follicle Stimulating Hormone (blood)
  • Gonadotropin-Releasing Hormone (blood)
  • Heterozygote Detection
  • Humans
  • Male
  • Mutation, Missense (genetics)
  • Neurofibromatosis 1 (diagnosis, genetics)
  • Phenotype
  • Prognosis
  • Puberty, Precocious (diagnosis, genetics)
  • Receptors, LH (genetics)
  • Singapore
  • Testosterone (blood)

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