Akademik Veri Yönetim Sistemi
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, sa.1, ss.96
Combined pituitary hormone deficiency (CPHD) designates
impaired production of growth hormone (GH) and one or
more of the other anterior pituitary hormones. The extent of
the symptoms depends upon the degree and the combination
of the deficient hormones. Most affected children have normal
or low birth weight and birth length, and an uncomplicated
perinatal period. Growth failure and failure to thrive generally
start in infancy or early childhood. Rarely, hypothyroidism is
the presenting finding. Some cases may show severe mental
retardation. Studies show that up to 50% of CPHD cases are
genetically derived and approximately half of these are caused
by PROP1 gene mutations. Other genes, POU1F1, HESX1,
LHX3 and LHX4, may rarely be associated with familial
CPHD. We ascertained 50 pedigrees with variable degrees of
CPHD from pediatric endocrinology clinics throughout Turkey.
Screenings were conducted for PROP1 mutations by Multiplex
Ligation-dependent Probe Amplification (MLPA) to
identify if any gross deletions followed by DNA sequencing
for other small variation and mutations. Our molecular investigation
is presently in progress. During the poster session, we
propose to present the PROP1 gene mutation spectrum and
contribute to enlighten the mutation detection rate of PROP1
in Turkish CPHD patients. Although, it is known that clinical
phenotype of PROP1 deficiency is variable – even among individuals
with the same mutation – making the genotytpe-phenotype
correlation difficult, early molecular diagnosis of
affected families will provide private genetic counseling, early
management of the hormonal deficiencies and correct differential
diagnosis.