Semih BOLU, Abdulvahit AŞIK, Özden ÖZTÜRK

Two sisters with homozygous deletion mutation in the PROP-1 gene

Defects in the PROP-1 gene produce clinical findings by affecting somatotrophs, thyrotrophs, lactotrophs, gonadotrophs and corticotrophs. The first finding in cases with PROP-1 gene mutation is growth retardation associated with growth hormone (GH) deficiency and central hypothyroidism. Other hormone deficiencies are added over time. We describe two sisters with deletion mutation in the PROP-1 gene. The parents were first-degree cousins. The female patient identified as the index case was 4.6 and the other sister was 1.9 years old when they presented with failure to thrive and short stature. Central hypothyroidism and GH deficiency was determined in both sisters. Homozygous deletion mutation was determined in the PROP-1 gene at genetic analysis. PROP-1 mutation should be considered in patients presenting with combined GH deficiency and central hypothyroidism, and the diagnosis must be confirmed with genetic analysis.

PROP-1 geninde homozigot delesyon mutasyonuna sahip iki kız kardeş

PROP-1 genindeki bozukluklar somatrop, tirotrop, laktotrop, gonadotrop ve kortikotropları etkileyerek klinik bulgulara yol açar. PROP-1 gen mutasyonu olan vakalarda ilk bulgu büyüme hormonu eksikliği ve santral hipotiroidi ile ilişkili büyüme geriliğidir. Diğer hormon eksiklikleri zamanla eklenir. Burada, PROP-1 geninde silme mutasyonu olan iki kız kardeşi bildirdik. Ebeveynler birinci derece kuzendi. Büyüme gelişme geriliği ve boy kısalığı yakınması ile başvuran olgulardan indeks kız hasta 4,6 yaşında, kız kardeşi ise 1,9 yaşındaydı. Her iki kız kardeşte de santral hipotiroidizm ve büyüme hormonu eksikliği (BH) belirlendi. Genetik analizde, PROP-1 geninde homozigot delesyon mutasyonu saptandı. Büyüme hormon eksikliği ve santral hipotiroidi ile başvuran hastalarda PROP-1 mutasyonu düşünülmeli ve genetik analiz ile tanı doğrulanmalıdır.

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