Testotoxicosis: Report of two cases, one with a novel mutation in LHCGR gene

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Özcabı B., Bucak F. T., CEYLANER S., ÖZCAN R., Büyükünal C., ERCAN O., ...Daha Fazla

JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.7, sa.3, ss.242-248, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/jcrpe.2067
  • Dergi Adı: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.242-248
  • Anahtar Kelimeler: Testotoxicosis, microlithiasis, anastrozole, bicalutamide, cyproterone acetate, ketoconazole, LUTEINIZING-HORMONE RECEPTOR, LIMITED PRECOCIOUS PUBERTY, CONSTITUTIVELY ACTIVATING MUTATION, FAMILIAL SEXUAL PRECOCITY, LEYDIG-CELL HYPERPLASIA, CYPROTERONE-ACETATE, TESTICULAR MICROLITHIASIS, KETOCONAZOLE THERAPY, HEPATIC-INJURY, BOY
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.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 LH and follicularstimulating hormone (FSH) levels. There are different treatment regimens, such as combination of bicalutamide (antiandrogen agent) and a third-generation aromatase inhibitor, that are reported to be well-tolerated and successful in slowing bone age advancement and preventing progression of virilization. We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). Combination of bicalutamide+anastrozole was ineffective in slowing pubertal progression and bone age. Short-term results were better with ketoconazole.