Ailevi Testotoksikoz: Olgu Sunumu

Öz

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

Öz

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

Anahtar Kelimeler

• Familial testotoxicosis, Child, Precocious puberty

Kaynakça

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