Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.

Chelsi FlippoVipula KolliMelissa AndrewSeth BergerTricia BhattiAlison M BoyceDaniel CasellaMichael T CollinsEmmanuèle DélotJoseph DevaneyStephen M HewittThomas KolonAshwini MallappaPerrin C WhiteDeborah P MerkeAndrew Dauber

Published in: Journal of the Endocrine Society (2022)

variant and the developmental timing of the somatic mutation likely play a role in the risk of tumor formation. Abiraterone (a CYP17A1 inhibitor), in combination with an antiandrogen, aromatase inhibitor, and glucocorticoid, appears to be an effective therapy for severe peripheral precocious puberty in boys.

Keyphrases

copy number
single cell
cell therapy
early onset
stem cells
gene expression
mesenchymal stem cells
drug induced
genome wide
chemotherapy induced