Mehmet Emre ATABEK, Buray EKLİOĞLU SELVER, Nesibe AKYÜREK

Ailevi Testotoksikoz: Olgu Sunumu

Ailevi Testotoksikoz LH reseptöründe aktive edici mutasyon nedeniyle testislerin otoaktivasyon kazanması sonucu ortaya çıkan gonodotropin bağımlı olmayan yalancı erken puberte nedenidir. 2 yaş 3 aylık erkek hasta, kliniğimize genital bölgede kıllanma şikayetiyle başvurdu. Babada ve babanın erkek kuzenlerinde erken puberte öyküsü mevcuttu. Cilt ve sistem muayeneleri normal olan hastanın testis volumleri bilateral 4 ml, gerilmiş penis boyu 4.5 cm, pubik kıllanması Tanner evre 2’di. Testosteron seviyeleri pubertal düzeyde olmasına rağmen bazal ve uyarılmış LH seviyeleri prepubertaldi. Hasta aile öyküsü ile birlikte değerlendirildiğinde klinik ve biyokimyasal olarak ailevi testotoksikoz tanısı aldı.Vaka nadir görülmesi nedeni ile sunuldu.

Anahtar Kelimeler:

Ailevi testotoksikoz, Çocuk, Erken puberte

Familial Testotoxicosis: A Case Report

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

Keywords:

Familial testotoxicosis, Child, Precocious puberty,

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Lee P, Houk C. Puberty and Its Disorders. In : Lifshitz F, (ed). Pediatric Endocrinology. Fifth edition. İnforma healthcare USA, Inc; 2007:277-303
Eugster EA. Peripheral precocious puberty: Causes and management. Hormone Research 2009;71:64-7.
Carel JC, Léger J. Clinical practice. Precocious puberty. N Engl J Med 2008; 358:2366-77.
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.
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.
Happle R. The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 1986;29:321-4.
Iqbal MZ, Saleem M, Shahzad ZA. A case of van wyk-grumbach syndrome. APSP J Case Rep 2013;4(2):24.