Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function
LHCGR
LHR
Leydig cell tumor
luteinizing hormone-chorionic gonadotropin receptor
precocious puberty
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Oct 2022
01 Oct 2022
Historique:
received:
28
04
2022
entrez:
16
9
2022
pubmed:
17
9
2022
medline:
17
9
2022
Statut:
epublish
Résumé
Autosomal dominant and rarely de novo gain-of-function variants in the We present a boy with gonadotropin-independent precocious puberty and rapid virilization beginning in infancy resistant to standard therapy. Treatment with abiraterone in addition to letrozole and bicalutamide proved effective. Bilateral diffuse Leydig cell tumors were identified at age 5 years. Whole-genome sequencing of tumor and blood samples was performed. The patient was confirmed to have bilateral, diffuse Leydig cell tumors harboring the somatic, gain-of-function p.Asp578His variant in the We report a young boy with severe gonadotropin-independent precocious puberty beginning in infancy who developed bilateral diffuse Leydig cell tumors at age 5 years due to a somatic gain-of-function p.Asp578His variant in
Identifiants
pubmed: 36111273
doi: 10.1210/jendso/bvac127
pii: bvac127
pmc: PMC9469925
doi:
Types de publication
Case Reports
Langues
eng
Pagination
bvac127Informations de copyright
Published by Oxford University Press on behalf of the Endocrine Society 2022.
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