The Turkish Journal of Pediatrics
2012 , Vol 54 , Num 6
Frequency of Mutations in PROP-1 Gene in Turkish Children with Combined Pituitary Hormone Deficiency
1Pediatric Endocrinology Unit, Department of Pediatrics, and 2Department of Medical Biology, Hacettepe University Faculty
of Medicine, Ankara, Turkey. E-mail: dogus.vuralli@hacettepe.edu.tr
Mutations in the prophet of Pit-1 (PROP-1) gene are responsible for most of
the cases of combined pituitary hormone deficiencies (CPHD). We performed
this study to determine the prevalence of PROP-1 mutations in a group of
Turkish children with CPHD. Fifty-three children with the diagnosis of CPHD
were included in this study. Clinical data were obtained from medical files,
and hormonal evaluation and genetic screening for PROP-1 mutations were
performed. A homozygous S109X mutation was found in the second exon in
two brothers, and they had growth hormone (GH) and thyroid-stimulating
hormone (TSH) deficiencies and normal prolactin levels. In the third exon
of the PROP-1 gene, a heterozygous A142T polymorphism was found in 14
patients and a homozygous A142T polymorphism was found in 3 patients. In
the first exon, a homozygous A9A polymorphism was found in 7 patients and
a heterozygous A9A polymorphism was found in 31 patients. We assumed
that mutations in the PROP-1 gene in cases with CPHD were expected to
be more prevalent in our population due to consanguinity, but it was found
that these mutations were far less than expected and that it was rare in
non-familial cases.
Keywords :
hyposecretion syndrome, anterior pituitary, prophet of Pit-1, paired-like
homeodomain transcription factor, human, growth hormone, pituitary.