A GIRL WITH RUBINSTEIN-TAYBI SYNDROME AND PREMATURE THELARCHE AND PREMATURE VAGINAL BLEEDING

Öz

The Rubinstein–Taybi syndrome (RTS) is characterized by microcephaly, dysmorphic face, short stature, mental retardation, broad thumbs and big toes. Although premature thelarche had been described in children with Rubinstein–Taybi syndrome, premature vaginal bleeding had been described only in one case.It is shown that RTS can be caused by mutations in intracellular multiple signal transduction pathways (CREBbinding protein-CBP or EP300). It is speculated that premature thelarche in RTS is caused by hormonal deficiency secondary to intracellular signal transduction defects. Here we report a 7.2-year-old girl with RTS, premature thelarche and premature vaginal bleeding who was diagnosed as ALL when she was 2 years old

Anahtar Kelimeler

• Rubinstein-Taybi Syndrome, Premature thelarche, premature vaginal bleeding

Rubinstein-Taybi Sendromlu Bir Kız Hastada Prematüre Telarş ve Prematüre Vajinal Kanama

Öz

Rubinstein-Taybi sendromu (RTS), mikrosefali, dismorfik yüz, boy kısalığı, mental retardasyon, geniş el ve ayak başparmağı ile karakterizedir. Rubinstein-Taybi sendromlu çocuklarda prematüre telarş bildirilmekle birlikte prematüre vajinal kanama sadece bir olguda bildirilmiştir. Rubinstein-Taybi sendromunun hücre içi bir çok sinyal iletim yolaklarının bozulmasına yol açan mutasyonlar (CREB-bağlayıcı protein-CBP veya EP300) ile ilişkili olabileceği gösterilmiştir. Rubinstein-Taybi sendromlu olgularda gelişebilen prematüre telarşın, hücre içi sinyalizasyon defektine bağlı oluşabilecek olası bir hormonal bozukluğa ikincil olarak gelişebileceği ileri sürülmüştür. Burada ilk kez 7.2 yaşında takibimize giren, prematüre telarş ve prematüre vajinal kanama nedeni ile değerlendirilen, 2 yaşında akut lenfoblastik lösemi (ALL) tanısı almış RTS’li bir olgu sunulmuştur.

Anahtar Kelimeler

• Rubinstein-Taybi Sendromu, prematüre telarş, prematüre vajinal kanama

Kaynakça

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