Ailevi Testotoksikoz: Olgu Sunumu
Yükleniyor...
Dosyalar
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Ailevi Testotoksikoz LH reseptöründe aktive edici mutasyon nedeniyle testislerin otoaktivasyon kazanması sonucu or- taya 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 hacimleri bilateral 4 ml, gerilmiş penis boyu 4.5 cm, pubik kıllanması Tan- ner evre 2di. 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. Olgu nadir görülmesi nedeni ile sunuldu.
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 fathers male cousins. On physical examination skin and systemic findings 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.
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 fathers male cousins. On physical examination skin and systemic findings 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.
Açıklama
Anahtar Kelimeler
Pediatri, Ailevi Testotoksikoz, Çocuk, Erken Puberte, Familial Testotoxicosis, Child, Precocious Puberty
Kaynak
Türkiye Çocuk Hastalıkları Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
8
Sayı
3
Künye
Akyürek, N., Atabek, M. E., Eklioğlu Selver, B. (2014). Ailevi Testotoksikoz: Olgu Sunumu. Türkiye Çocuk Hastalıkları Dergisi, 8, 3, 149-151.
