TY - JOUR TT - Familial Testotoxicosis: A Case Report AU - Akyürek, Nesibe AU - Atabek, Mehmet Emre AU - Eklioğlu, Beray Selver PY - 2014 DA - June JF - Türkiye Çocuk Hastalıkları Dergisi JO - Türkiye Çocuk Hast Derg PB - T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi WT - DergiPark SN - 1307-4490 SP - 0 EP - 0 VL - 8 IS - 3 KW - Ailevi testotoksikoz KW - Çocuk KW - Erken puberte N2 - Testotoxicosis arises from testicular autoactivation due to LH receptor activating mutations and is a cause of false gonadotropin-independent precocious puberty. A male child aged 2 years and 3 months was admitted to our clinic with pubic hair in the genital area. He had a family history of precocious puberty in the father and the father’s male cousins. On physical examination skin and systemic fi ndings were normal, bilateral testis volume was 4 ml, stretched penile length was 4.5 cm, and pubic hair was Tanner stage 2. Although the testosterone levels were pubertal, baseline and stimulated LH levels were prepubertal.The patient was diagnosed with testotoxicosis with the family history, and clinical and biochemical evaluation.The case was presented because of its rarity CR - Lee P, Houk C. Puberty and Its Disorders. In : Lifshitz F, (ed). Pediatric Endocrinology. Fifth edition. İnforma healthcare USA, Inc; 2007:277-303 CR - Eugster EA. Peripheral precocious puberty: Causes and management. Hormone Research 2009;71:64-7. CR - Carel JC, Léger J. Clinical practice. Precocious puberty. N Engl J Med 2008; 358:2366-77. CR - Öcal G. Erken Puberte. In: Günöz H, Öcal G,Yordam N, Kurtoğlu S, (eds). Pediatrik Endokrinoloji ve Oksikoloji Derneği. Ankara: Kalkan Matbaacılık, 2003:155-88. CR - Englund AT, Geffner ME, Nagel RA, Lippe BM, Braunstein GD. Pediatric germ cell and human chorionic gonadotropin-producing tumors. Clinical and laboratory features. Am J Dis Child 1991; 145:1294-7. CR - Happle R. The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 1986;29:321-4. CR - Iqbal MZ, Saleem M, Shahzad ZA. A case of van wyk-grumbach syndrome. APSP J Case Rep 2013;4(2):24. UR - https://dergipark.org.tr/en/pub/tchd/article/548978 L1 - https://dergipark.org.tr/en/download/article-file/687617 ER -