Article
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Journal of clinical research in pediatric endocrinology - 1 Sept 2015
Özcabı Bahar, Tahmiscioğlu Bucak Feride, Ceylaner Serdar, Özcan Rahşan, Büyükünal Cenk, Ercan Oya, Tüysüz Beyhan, Evliyaoğlu Olcay
Abstract excerpt
Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males. Despite the pattern of autosomal dominant inheritance, sporadic cases also may occur. Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early virilization and advancement in bone age are common with increased serum testosterone levels above adult ranges, despite low...
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